ABSTRACT
OBJECTIVES@#To investigate the genetic information of 57 autosomal InDel loci (A-InDels) included in AGCU InDel 60 fluorescence detection kit in the Beichuan Qiang population of Sichuan Province and evaluate its application value in forensic medicine.@*METHODS@#A total of 200 unrelated healthy individuals from Beichuan Qiang population of Sichuan Province were typing detected by AGCU InDel 60 fluorescence detection kit. Allele frequencies and population genetic parameters of the 57 A-InDels were statistically analyzed and compared with the available data of 26 populations.@*RESULTS@#After Bonferroni correction, there was no linkage disequilibrium between the 57 A-InDels, and all loci were in Hardy-Weinberg equilibrium. Except for rs66595817 and rs72085595, the minor allele frequencies of 55 A-InDels were above 0.3. PIC ranged from 0.298 3 to 0.375 0, CDP was 1-2.974 8×10-24, CPEduo was 0.999 062 660, and CPEtrio was 0.999 999 999. The calculation of the genetic distance showed that Beichuan Qiang population had the closest genetic distances with Beijing Han and South China Han populations, but far away from African populations.@*CONCLUSIONS@#The 57 A-InDels in AGCU InDel 60 fluorescence detection kit have a good genetic polymorphism in Beichuan Qiang population of Sichuan Province, which can be used as effective supplemental for individual identification and paternity identification in forensic medicine.
Subject(s)
Humans , Genetics, Population , Asian People/genetics , Polymorphism, Genetic , Gene Frequency , INDEL Mutation , China , Microsatellite Repeats , Genetic LociABSTRACT
RESUMEN El parkinsonismo constituye un conjunto de signos y síntomas clínicos caracterizados por bradicinesia y temblor en reposo o rigidez, cuya causa más frecuente es la enfermedad de Parkinson (EP). La gran mayoría de los casos de EP son esporádicos, sin embargo, existe una minoría en la cual la etiología se debe a una mutación heredada, ya sea autosómica dominante (AD), autosómica recesiva (AR) o herencia ligada al X. La identificación de estas causas heredables es importante para una adecuada consejería genética y tratamiento. Se presenta el caso de un paciente con EP de inicio temprano en el que se identificó una mutación AD en el gen GIGYF2 o PARK11, asociado a una breve revisión de la literatura
SUMMARY Parkinsonism constitutes a set of clinical signs and symptoms characterized by bradykinesia and tremor at rest and / or rigidity. The main etiology is Parkinson's disease (PD), but there are other causes such as atypical parkinsonism. The vast majority of PD cases are sporadic, however, there is a minority where the etiology is due to an inherited mutation, either autosomal dominant (AD), autosomal recessive (RA), or X-linked inheritance. Identifying these heritable causes is important for proper genetic counseling and treatment. We present the case of a patient with early-onset PD where an AD mutation in the GIGYF2 gene (PARK11) was identified. We subsequently present a brief review of the literature.
Subject(s)
Parkinson Disease , Parkinsonian Disorders , Genetic Loci , GeneticsABSTRACT
Gene expression labeling and conditional manipulation of gene function are important for elaborate dissection of gene function. However, contemporary generation of pairwise dual-function knockin alleles to achieve both conditional and geno-tagging effects with a single donor has not been reported. Here we first developed a strategy based on a flipping donor named FoRe to generate conditional knockout alleles coupled with fluorescent allele-labeling through NHEJ-mediated unidirectional targeted insertion in zebrafish facilitated by the CRISPR/Cas system. We demonstrated the feasibility of this strategy at sox10 and isl1 loci, and successfully achieved Cre-induced conditional knockout of target gene function and simultaneous switch of the fluorescent reporter, allowing generation of genetic mosaics for lineage tracing. We then improved the donor design enabling efficient one-step bidirectional knockin to generate paired positive and negative conditional alleles, both tagged with two different fluorescent reporters. By introducing Cre recombinase, these alleles could be used to achieve both conditional knockout and conditional gene restoration in parallel; furthermore, differential fluorescent labeling of the positive and negative alleles enables simple, early and efficient real-time discrimination of individual live embryos bearing different genotypes prior to the emergence of morphologically visible phenotypes. We named our improved donor as Bi-FoRe and demonstrated its feasibility at the sox10 locus. Furthermore, we eliminated the undesirable bacterial backbone in the donor using minicircle DNA technology. Our system could easily be expanded for other applications or to other organisms, and coupling fluorescent labeling of gene expression and conditional manipulation of gene function will provide unique opportunities to fully reveal the power of emerging single-cell sequencing technologies.
Subject(s)
Animals , Alleles , CRISPR-Cas Systems , DNA End-Joining Repair , DNA, Circular/metabolism , Embryo, Nonmammalian , Gene Editing/methods , Gene Knock-In Techniques , Gene Knockout Techniques , Genes, Reporter , Genetic Loci , Genotyping Techniques , Green Fluorescent Proteins/metabolism , Integrases/metabolism , Luminescent Proteins/metabolism , Mutagenesis, Insertional , Single-Cell Analysis , Zebrafish/metabolismABSTRACT
OBJECTIVES@#Due to the genetic feature of high diversity than other DNA markers, short tandem repeat (STR) plays key roles in forensic, anthropology, and population genetics. Newly introduced multiple STR kit is more valuable because of the greatly improved discriminatory power with the increase in the number of STR loci. The genetic polymorphic data are essential for the application and research in specific population. This study aims to investigate the genetic polymorphism of Han population residing in Yuncheng district, Shanxi Province, to evaluate the application of 23 STR loci in forensic personal identification and paternity test, and to explore the genetic relationship of Han population between Yuncheng and other populations.@*METHODS@#A total of 23 STR loci were amplified from 525 healthy unrelated individuals from the Han nationality in Yuncheng, Shanxi Province using the AGCU EX25 amplification kit. The products were detected and separated by ABI 3500 Genetic Analyzer. Alleles were genotyped by GeneMapper ID (Version 3.2) software, and corresponding frequencies and forensic parameters were calculated. We calculated the genetic distance and plotted the neighboring-joining tree with other 13 population.@*RESULTS@#The allele frequency of the 23 STRs ranged from 0.0010 to 0.5090. No deviation from Hardy-Weinberg equilibrium (@*CONCLUSIONS@#These 23 STRs are highly genetic polymorphic and informative in the Han population of Yuncheng, Shanxi Province, which can provide basic data for forensic personal identification, paternity testing, and population genetic research.
Subject(s)
Humans , Asian People/genetics , China , Ethnicity/genetics , Gene Frequency , Genetic Loci , Genetics, Population , Microsatellite Repeats/genetics , Polymorphism, GeneticABSTRACT
OBJECTIVE: Total ceramide concentrations are linked with increased insulin resistance and cardiac dysfunction. However, recent studies have demonstrated that plasma concentrations of specific very-long-chain fatty ceramides (C24:0 and C22:0) are associated with a reduced incidence of coronary heart disease and all-cause mortality. We hypothesized that specific genetic loci are associated with plasma C22:0 and C24:0 concentrations.METHODS: Heritability and genome-wide association studies of plasma C24:0 and C22:0 ceramide concentrations were performed among 2,217 participants in the Framingham Heart Study Offspring Cohort, adjusting for cardiovascular risk factor covariates and cardiovascular drug treatment.RESULTS: The multivariable-adjusted heritability for C22:0 and C24:0 ceramides was 0.42 (standard error [SE], 0.07; p=1.8E-9) and 0.25 (SE, 0.08; p=0.00025), respectively. Nineteen single nucleotide polymorphisms (SNPs), all on chromosome 20, significantly associated with C22:0 concentrations; the closest gene to these variants was SPTLC3. The lead SNP (rs4814175) significantly associated with 3% lower plasma C22:0 concentrations (p=2.83E-11). Nine SNPs, all on chromosome 20 and close to SPTLC3, were significantly associated with C24:0 ceramide concentrations. All 9 were also significantly related to plasma C22:0 levels. The lead SNP (rs168622) was significantly associated with 10% lower plasma C24:0 ceramide concentrations (p=9.94E-09).CONCLUSION: SNPs near the SPTLC3 gene, which encodes serine palmitoyltransferase long chain base subunit 3 (SPTLC3; part of the enzyme that catalyzes the rate-limiting step of de novo sphingolipid synthesis) were associated with plasma C22:0 and C24:0 ceramide concentrations. These results are biologically plausible and suggest that SPTLC3 may be a potential therapeutic target for C24:0 and C22:0 ceramide modulation.
Subject(s)
Cardiovascular Diseases , Ceramides , Chromosomes, Human, Pair 20 , Cohort Studies , Coronary Disease , Genetic Loci , Genome-Wide Association Study , Genomics , Heart , Incidence , Insulin Resistance , Mortality , Plasma , Polymorphism, Single Nucleotide , Risk Factors , Serine C-PalmitoyltransferaseABSTRACT
Objective To investigate the population genetic data of 47 autosomal insertion/deletion （InDel） polymorphism genetic markers involved in AGCU InDel 50 kit in Guangdong Han, Guangxi Zhuang, Guangxi Yao, Guangxi Jing, and Guangxi Mulam, and to evaluate their application in forensic DNA identification. Methods Multiplex amplification of the 768 unrelated individuals from the 5 ethnic groups mentioned above was performed with the AGCU InDel 50 kit. Genotyping was carried out by 3500xL gene analyzer, population genetic parameters were gathered and polymorphism analysis was performed. Results No linkage disequilibrium was found among 47 autosomal InDel loci in the 5 ethnic groups. The distribution of genotype frequency of 47 autosomal InDel loci confirmed to the Hardy-Weinberg equilibrium in Guangdong Han and Guangxi Zhuang. Except for rs139934789, the other 46 loci confirmed to the Hardy-Weinberg equilibrium in Guangxi Yao, Guangxi Jing, and Guangxi Mulam. The results of genetic variation analysis among the populations showed that 1.12% of genetic variation was caused by ethnic group differences. The cumulative discrimination power of 47 autosomal InDel loci for the 5 ethnic groups were all above 0.999 999 999 999 999. The cumulative probability of exclusion for each ethnic group was less than 0.999 9. The two Y-InDels were identified in all male individuals and were absent in all female individuals. Conclusion Except for rs139934789, the other 46 InDel loci have a relatively good genetic polymorphism in the 5 Chinese ethnic groups, and can be used for forensic individual identification and as effective supplements for paternity testing.
Subject(s)
Female , Humans , Male , Asian People/genetics , China , Ethnicity/genetics , Gene Frequency , Genetic Loci , Genetics, Population , INDEL Mutation , Microsatellite Repeats , Polymorphism, GeneticABSTRACT
El aguacate es un cultivo de consumo a nivel mundial, y según teorías recientes, se sugiere a la región de la Sierra Nevada, en California, como centro de origen y, a Guatemala, como uno de los principales centros de domesticación. Mediante caracterizaciones morfológicas se ha reportado una alta diversidad genética en el país, pero debido al comportamiento de polinización cruzada e hibridaciones interraciales, no se ha podido detallar el estado genético actual de la especie. Sin embargo, los marcadores moleculares son útiles para este tipo de estudios al enfocarse en las diferencias a nivel del ADN. Este estudio analizó la diversidad genética del aguacate nativo guatemalteco de siete poblaciones geográficas con el marcador molecular AFLP. Los datos de estructura poblacional mostraron un alto grado de diversidad a nivel de individuos (Ht = 0.1933, Hw = 0.1872) y baja diferenciación entre poblaciones (Hb = 0.0061). Los resultados sugieren una alta tasa de migración que influye directamente en el grado de mezcla genética de los materiales analizados. El bajo índice de estructura poblacional apunta a un alto flujo genético entre las poblaciones, por lo que la especie no presenta mayor riesgo ante la deriva genética, minimizándose el riesgo de pérdida de alelos por fijación. Se sugiere el resguardado del recurso fitogénetico total y no únicamente de materiales promisorios, evitando así el riesgo de erosión genética de la especie y garantizando la permanencia de la diversidad genética, la cual será la base de futuros programas de mejoramiento.
Avocado is one of the most widely consumed crops worldwide and according to new theories, the Sierra Nevada region in California is suggested as the center of origin and Guatemala as one of the main domestication cen-ters. Through morphological characterizations, a high genetic diversity has been reported in the country, but due to the behavior of cross pollination and interracial hybridizations, it has not been possible to detail the current genetic status of the species. Molecular markers are useful for this type of study by focusing on differences at DNA level. This study analyzed the genetic diversity of the native Guatemalan avocado from seven geographic populations with AFLP molecular marker. Population structure data showed a high degree of diversity at the individual level (Ht = 0.1933, Hw = 0.1872) and low differentiation between populations (Hb = 0.0061). The results suggest a high rate of migration that directly influences the degree of genetic mixing of the analyzed materials. The low index of population structure points to a high genetic flow between populations, so that the species does not present a greater risk due to genetic drift, minimizing the risk of loss of alleles due to fixation. The protection of the total genetic resource is suggested, and not only of promising materials, thus avoiding the risk of genetic erosion of the species and guaranteeing the permanence of genetic diversity, which will be the basis of future breeding programs.
Subject(s)
Genetic Variation , Plant Leaves/genetics , Persea/genetics , Amplified Fragment Length Polymorphism Analysis/classification , Genetic Variation/genetics , DNA, Plant/analysis , Genetic Drift , Genetic Loci , DomesticationABSTRACT
Chromatin conformation, localization, and dynamics are crucial regulators of cellular behaviors. Although fluorescence in situ hybridization-based techniques have been widely utilized for investigating chromatin architectures in healthy and diseased states, the requirement for cell fixation precludes the comprehensive dynamic analysis necessary to fully understand chromatin activities. This has spurred the development and application of a variety of imaging methodologies for visualizing single chromosomal loci in the native cellular context. In this review, we describe currently-available approaches for imaging single genomic loci in cells, with special focus on clustered regularly interspaced short palindromic repeats (CRISPR)-based imaging approaches. In addition, we discuss some of the challenges that limit the application of CRISPR-based genomic imaging approaches, and potential solutions to address these challenges. We anticipate that, with continued refinement of CRISPR-based imaging techniques, significant understanding can be gained to help decipher chromatin activities and their relevance to cellular physiology and pathogenesis.
Subject(s)
CRISPR-Cas Systems , Genetics , Clustered Regularly Interspaced Short Palindromic Repeats , Genetics , Genetic Loci , Genomics , Molecular Imaging , Methods , Nanoparticles , ChemistryABSTRACT
Background: Microsatellite loci often used as a genetic tool for estimating genetic diversity population variation in a wide variety of different species. The application of microsatellite markers in genetics and breeding includes investigating the genetic differentiation of wild and cultured populations, assessing and determining the genetic relationship of different populations. The aim of this work is to develop several microsatellite markers via highthroughput sequencing and characterize these markers in commercially important bivalve Ruditapes philippinarum. Results: Among the two populations of R. philippinarum studied, 110 alleles were detected. The number of alleles at the cultured population ranged from 3 to 17 (mean NA = 6.897) and wild population ranged from 2 to 15 (mean NA = 6.793). The observed and expected heterozygosities of cultured population ranged from 0.182 to 0.964, and from 0.286 to 0.900, with an average of 0.647 and 0.692, respectively. The observed and expected heterozygosities of wild population ranged from 0.138 to 1.000, and from 0.439 to 0.906, with an average of 0.674 and 0.693, respectively. The polymorphism information content ranged from 0.341 to 0.910 with an average of 0.687. Sixteen and thirteen microsatellite loci deviated significantly from HardyWeinberg equilibrium after correction for multiple tests in cultured and wild population, respectively. Conclusions: Twenty-nine novel microsatellite loci were developed using Illumina paired-end shotgun sequencing and characterized in two population of R. philippinarum.
Subject(s)
Animals , Genetic Variation , Bivalvia/genetics , Microsatellite Repeats , Polymorphism, Genetic , Aquaculture , Genetic Loci , Genetics, PopulationABSTRACT
Thyroid cancer has one of the highest hereditary component among human malignancies as seen in medical epidemiology investigations, suggesting the potential meaningfulness of genetic studies. Here we review researches into genetic variations that influence the chance of developing non-familial differentiated thyroid cancer (DTC), focusing on the major findings of the genome-wide association studies (GWASs) of common single-nucleotide polymorphisms (SNPs). To date, eight GWAS have been performed, and the association of a number of SNPs have been reproduced in dozens of replication investigations across different ethnicities, including Korea and Japan. Despite the cumulative effect of the strongest SNPs demonstrates gradual increase in the risk for cancer and their association signals are statistically quite significant, the overall prediction ability for DTC appears to be very limited. Thus, genotyping of common SNPs only would be insufficient for evidence-based counseling in clinical setting at present. Further studies to include less significant and rare SNPs, non-SNP genetic information, gene-gene interactions, ethnicity, non-genetic and environmental factors, and development of more advanced computational algorithms are warranted to approach to personalized disease risk prediction and prognostication.
Subject(s)
Humans , Counseling , Epidemiology , Genetic Loci , Genetic Predisposition to Disease , Genetic Testing , Genetic Variation , Genome-Wide Association Study , Japan , Korea , Polymorphism, Genetic , Polymorphism, Single Nucleotide , Thyroid Gland , Thyroid NeoplasmsABSTRACT
OBJECTIVES@#To analyse the genetic polymorphisms of 19 autosomal STR loci in Han population of east, middle-northwest and southwest-south Shandong and to explore its genetic relationships among the population of these three regions.@*METHODS@#STR loci of 1 044 unrelated Han individuals in three Shandong regions were typed with a Goldeneye® DNA ID System 20A kit. The allele frequency and population genetics parameters of 19 autosomal STR loci were statistically analysed by Modified-Powerstates software. The genetic distances among the population in three regions were calculated by Arlequin v3.5 software. The phylogenetic tree was conducted using MEGA v4.0 software.@*RESULTS@#Fifteen of 19 autosomal STR loci were detected with the H values greater than 0.7, PIC values greater than 0.7, and DP values greater than 0.9 in the populations of all three Shandong regions. Among the populations in these three regions, the genetic distance between the populations in middle-northwest and southwest-south Shandong was closest （Fst=0.000 16）, followed by east and southwest-south Shandong （Fst=0.0003 6）. The genetic distance between the populations in east and middle-northwest Shandong was the farthest （Fst=0.000 66, P<0.05）.@*CONCLUSIONS@#The 19 autosomal STR loci show good genetic polymorphisms in Han population of three Shandong regions, and 15 of them are high. There are genetic differences between the populations in east and middle-northwest Shandong.
Subject(s)
Humans , Asian People/genetics , China , Ethnicity , Gene Frequency , Genetic Loci/genetics , Genetics, Population , Microsatellite Repeats , Phylogeny , Polymorphism, Genetic/geneticsABSTRACT
STUDY DESIGN: Prospective case-controlled study. PURPOSE: This study aimed to assess genetic influence in Saudi Arabian children with adolescent idiopathic scoliosis (AIS). OVERVIEW OF LITERATURE: The genetic locus linked to chromosome 19p for idiopathic scoliosis has been described. A pilot study conducted at King Fahd Hospital of the University, Al-Khobar showed that three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3 were significant in Saudi Arabian females compared with healthy subjects. METHODS: A total of 100 unrelated Saudi Arabian girls treated for AIS, their parents, healthy siblings, and healthy subjects were recruited for genetic analysis of markers on chromosome 19p13.3. After informed consent was obtained from their parents, blood samples were collected and parametric and nonparametric linkage analyses were performed using GENEHUNTER ver. 2.1. Multipoint linkage analysis was used to specify an autosomal dominant trait with a gene frequency of 0.01 and an estimated penetrance of 80% at the genotypic and allelic levels. RESULTS: Five hundred blood samples were collected and analyzed for microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3. Comparison among patients, family members, and healthy subjects revealed no significant association between markers and scoliosis at the genotypic level: D19S216 (p=0.21), D19S894 (p=0.37), and DS1034 (p=0.25). However, at the allelic level, a statistically significant association was observed for marker DS1034 (p=0.008), and marker D19S216 showed significance between fathers and patients (p<0.001) compared with patients and mothers. The other two markers, D19S216 (p=0.25) and D19S894 (p=0.17), showed no significant association between patients and mothers. CONCLUSIONS: At the allelic level, marker DS1034 was significantly associated with AIS patients and their fathers. This allelic marker on chromosome 19p13.3 appears to be important in AIS etiology.
Subject(s)
Adolescent , Child , Female , Humans , Case-Control Studies , Fathers , Genes, vif , Genetic Loci , Genetic Markers , Healthy Volunteers , Informed Consent , Microsatellite Repeats , Mothers , Parents , Penetrance , Pilot Projects , Prospective Studies , Saudi Arabia , Scoliosis , SiblingsABSTRACT
OBJECTIVES@#To study the genetic polymorphisms of 30 insertion/deletion （InDel） loci and evaluate their forensic application in Ewenki ethnic group from Inner Mongolia.@*METHODS@#Peripheral blood samples were collected from 87 unrelated healthy individuals in Ewenki ethnic group. Genomic DNA were extracted, and 30 InDel loci of the samples were multiplex amplified and genotyped. Hardy-Weinberg balance tests were preformed for all loci and genetic parameters were calculated by modified PowerStats v1.2 software. The linkage disequilibrium between loci were tested by SNPAnalyzer v2.0 software. Based on the allele frequencies of 30 InDel loci, the genetic relationships between Ewenki ethnic group and other populations were evaluated by analysis of molecular variance, principal component analysis and phylogenetic reconstruction.@*RESULTS@#After correction, 30 InDel loci conformed to Hardy-Weinberg equilibrium. It was found that the pairwise InDel loci were in linkage equilibrium after Bonferroni correction. The results of population genetics indicated that Ewenki ethnic group had close genetic relationships with Henan Han and Beijing Han populations; whereas it was significantly different from several populations in Europe and Mexico.@*CONCLUSIONS@#There are relatively high genetic polymorphisms on 30 InDel loci of Ewenki ethnic group from Inner Mongolia, which can be used as a helpful supplement application for STR detection system.
Subject(s)
Humans , Asian People/genetics , Beijing , China/epidemiology , DNA , Ethnicity/genetics , Gene Frequency , Genetic Loci , Genetics, Population , Genotype , INDEL Mutation , Linkage Disequilibrium , Microsatellite Repeats , Phylogeny , Polymorphism, Genetic , Social BehaviorABSTRACT
OBJECTIVES@#To observe and analyze the confirmed cases of paternity testing, and to explore the mutation rules of STR loci.@*METHODS@#The mutant STR loci were screened from 20 723 confirmed cases of paternity testing by Goldeneye 20A system．The mutation rates, and the sources, fragment length, steps and increased or decreased repeat sequences of mutant alleles were counted for the analysis of the characteristics of mutation-related factors.@*RESULTS@#A total of 548 mutations were found on 19 STR loci, and 557 mutation events were observed. The loci mutation rate was 0.07‰-2.23‰. The ratio of paternal to maternal mutant events was 3.06:1. One step mutation was the main mutation, and the number of the increased repeat sequences was almost the same as the decreased repeat sequences. The repeat sequences were more likely to decrease in two steps mutation and above. Mutation mainly occurred in the medium allele, and the number of the increased repeat sequences was almost the same as the decreased repeat sequences. In long allele mutations, the decreased repeat sequences were significantly more than the increased repeat sequences. The number of the increased repeat sequences was almost the same as the decreased repeat sequences in paternal mutation, while the decreased repeat sequences were more than the increased in maternal mutation.@*CONCLUSIONS@#There are significant differences in the mutation rate of each locus. When one or two loci do not conform to the genetic law, other detection system should be added, and PI value should be calculated combined with the information of the mutate STR loci in order to further clarify the identification opinions.
Subject(s)
Humans , Male , Alleles , DNA Mutational Analysis/methods , Family , Genetic Loci , Microsatellite Repeats , Mutation , Mutation Rate , PaternityABSTRACT
Abstract In Latin America, the disease burden of shigellosis is found to coexist with the rapid and rampant spread of resistance to commonly used antibiotics. The molecular basis of antibiotic resistance lies within genetic elements such as plasmids, transposons, integrons, genomic islands, etc., which are found in the bacterial genome. Integrons are known to acquire, exchange, and express genes within gene cassettes and it is hypothesized that they play a significant role in the transmission of multidrug resistance genes in several Gram-negative bacteria including Shigella. A few studies have described antibiotic resistance genes and integrons among multidrug resistant Shigella isolates found in Latin America. For example, in Brazil, Bolivia, Chile, Costa Rica and Peru, class 1 and class 2 integrons have been detected among multidrug resistant strains of Shigella; this phenomenon is more frequently observed in S. flexneri isolates that are resistant to trimethoprim, sulfamethoxazole, streptomycin, ampicillin, chloramphenicol, and tetracycline. The gene cassette sul2, which is frequently detected in Shigella strains resistant to the sulfonamides, suggests that the sulfonamide-resistant phenotype can be explained by the presence of the sul2 genes independent of the integron class detected. It is to be noted that sul3 was negative in all isolates analyzed in these studies.The high frequency of sulfonamide (as encoded by sul2) and trimethoprim resistance is likely to be a result of the recurrent use of trimethoprim sulfamethoxazole as a popular regimen for the treatment of shigellosis. The observed resistance profiles of Shigella strains confirm that ampicillin and trimethoprim-sulfamethoxazole are ineffective as therapeutic options. In-depth information regarding antibiotic resistance mechanism in this pathogen is needed in order to develop suitable intervention strategies. There is a pressing need for regional and local antimicrobial resistance profiling of Shigella to be included as a part of the public health strategy.
Subject(s)
Shigella/drug effects , Shigella/genetics , Drug Resistance, Bacterial , Integrons , Dysentery, Bacillary/microbiology , Dysentery, Bacillary/epidemiology , Anti-Bacterial Agents/pharmacology , Population Surveillance , Dysentery, Bacillary/drug therapy , Genetic Loci , Genes, Bacterial , Latin America/epidemiology , Anti-Bacterial Agents/therapeutic useABSTRACT
BACKGROUND AND PURPOSE: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. Epilepsy and other neuropsychiatric (NP) manifestations of this genetic syndrome are not uncommon, but they are also not well-understood. We sought to identify the characteristics of epilepsy and other associated NP manifestations in patients with 22q11.2DS. METHODS: We retrospectively analyzed the medical records of 145 child and adolescent patients (72 males and 73 females) with genetically diagnosed 22q11.2DS. The clinical data included seizures, growth chart, psychological reports, development characteristics, school performance, other clinical manifestations, and laboratory findings. RESULTS: Of the 145 patients with 22q11.2DS, 22 (15.2%) had epileptic seizures, 15 (10.3%) had developmental delay, and 5 (3.4%) had a psychiatric illness. Twelve patients with epilepsy were classified as genetic epilepsy whereas the remaining were classified as structural, including three with malformations of cortical development. Patients with epilepsy were more likely to display developmental delay (odds ratio=3.98; 95% confidence interval=1.5-10.5; p=0.005), and developmental delay was more common in patients with structural epilepsy than in those with genetic epilepsy. CONCLUSIONS: Patients with 22q11.2DS have a high risk of epilepsy, which in these cases is closely related to other NP manifestations. This implies that this specific genetic locus is critically linked to neurodevelopment and epileptogenesis.
Subject(s)
Adolescent , Child , Humans , Male , DiGeorge Syndrome , Epilepsy , Genetic Loci , Growth Charts , Malformations of Cortical Development , Medical Records , Mental Disorders , Neurologic Manifestations , Retrospective Studies , SeizuresABSTRACT
OBJECTIVE@#A case of half sibling was determined with multiple genetic markers, which could be potentially applied for determination of half sibling relationship from same father.@*METHODS@#Half sibling relationship was detected by 39 autosomal STR genetic markers, 23 Y-chromosomal STR genetic markers and 12 X -chromosomal STR genetic markers among ZHAO -1, ZHAO -2, ZHAO -3, ZHAO -4, and ZHAO-5.@*RESULTS@#According to autosomal STR, Y-STR and X-STR genotyping results, it was determined that ZHAO-4 (alleged half sibling) was unrelated with ZHAO-1 and ZHAO-2; however, ZHAO-3 (alleged half sibling), ZHAO-5 (alleged half sibling) shared same genetic profile with ZHAO-1, and ZHAO-2 from same father.@*CONCLUSION@#It is reliable to use multiple genetic markers and family gene reconstruction to determine half sibling relationship from same father, but it is difficult to determination by calculating half sibling index with ITO and discriminant functions.
Subject(s)
Humans , Alleles , Chromosomes, Human, Y/genetics , Discriminant Analysis , Gene Frequency , Genetic Loci/genetics , Genetic Markers , Genotype , Paternity , SiblingsABSTRACT
Type 2 diabetes (T2DM) is a common complex metabolic disorder that has a strong genetic predisposition. During the past decade, progress in genetic association studies has enabled the identification of at least 75 independent genetic loci for T2DM, thus allowing a better understanding of the genetic architecture of T2DM. International collaborations and large-scale meta-analyses of genome-wide association studies have made these achievements possible. However, whether the identified common variants are causal is largely unknown. In addition, the detailed mechanism of how these genetic variants exert their effect on the pathogenesis of T2DM requires further investigation. Currently, there are ongoing large-scale sequencing studies to identify rare, functional variants for T2DM. Environmental factors also have a crucial role in the development of T2DM. These could modulate gene expression via epigenetic mechanisms, including DNA methylation, histone modification and microRNA regulation. There is evidence that epigenetic changes are important in the development of T2DM. Recent studies have identified several DNA methylation markers of T2DM from peripheral blood and pancreatic islets. In this review, we will briefly summarize the recent progress in the genetic and epigenetic research on T2DM and discuss how environmental factors, genetics and epigenetics can interact in the pathogenesis of T2DM.
Subject(s)
Cooperative Behavior , DNA Methylation , Epigenomics , Gene Expression , Genetic Association Studies , Genetic Loci , Genetic Predisposition to Disease , Genetics , Genome-Wide Association Study , Histones , Islets of Langerhans , MicroRNAsABSTRACT
La publicidad utiliza imágenes corporales fuertemente estereotipadas para promocionar cánones físicos y conductas alimentarias no saludables asociadas a productos de alimentación dirigidos sobre todo a jóvenes. El objetivo de este estudio, realizado en Barcelona (España) durante el mes de mayo de 2013, es testear la percepción de 25 valores en siete spots televisivos de alimentación (con y sin estrategias de imagen corporal) en 139 jóvenes con y sin trastornos de la conducta alimentaria (TCA). Los resultados muestran que solo el grupo de jóvenes con TCA considera que los spots con una estrategia comercial basada en la imagen corporal influyen muy negativamente en valores como salud, bienestar, familia y esfuerzo. En cambio, se ha observado una gran coincidencia entre los dos grupos cuando se evalúa el resto de los spots. Estos resultados señalan que los jóvenes universitarios españoles de hoy han aceptado como normal un canon de belleza basado en el orden social y económico, mientras que los jóvenes en tratamiento por desórdenes alimenticios sí han aprendido a decodificar este tipo de mensajes.
Advertising uses stereotyped body images to promote physical ideals and unhealthy eating habits related to food products which are targeted especially at young people. The purpose of this study, carried out in Barcelona (Spain) in May 2013, was to test the perception of 139 young people of university age - with and without eating disorders - regarding 25 values in seven food commercials that did and did not use body image strategies. Results show that only the group of young people with eating disorders considered commercials using body image strategies to have a very negative influence on values such as health, well-being, family and effort. In contrast, the assessment of the two groups regarding the rest of the commercials greatly coincided. These results show that todays university youth have accepted as normal a beauty canon based on the prevailing social and economic order, while young people in treatment for eating disorders have learned to denaturalize such messages.
Subject(s)
Humans , Biological Evolution , Genetics, Population , Models, Genetic , Selection, Genetic , Game Theory , Genetic Loci , Genotype , PhenotypeABSTRACT
The isolation of mannitol-negative methicillin-resistant Staphylococcus aureus from nasal swabs is reported. Among the 59 isolates, 9 (15%) isolates were mannitol-negative; all of these isolates were categorized as staphylococcal cassette chromosome mec (SCCmec) type IVa. This report emphasizes that mannitol fermentation on mannitol salt agar should not be used as the sole criterion when screening nasal swab specimens for S. aureus.