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1.
Vaccimonitor (La Habana, Print) ; 30(3)2021. tab, graf
Article in English | LILACS, CUMED | ID: biblio-1341782

ABSTRACT

Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii, that has the capacity to infect all warm-blooded animals worldwide. The purpose of this investigation was to determine the distribution of genotypes and alleles in miscarriages woman as a result of Toxoplasma gondii infection associated with interleukin-1β and interleukin-6 polymorphisms. A total of 125 miscarriage women suspected of toxoplasma infection and 50 healthy pregnant without previous miscarriage as control were enrolled in this study. The cases were screened for anti-toxoplasma IgM and IgG by ELISA test. Among the 125 miscarriage women, only 50 were positive to anti-Toxoplasma gondii IgG and IgM antibodies. The present study focused on assay the genotypes at IL-6 -174 G/C and IL-1β +3954 G>A to establish the associations between genetic polymorphisms and infection with Toxoplasma gondii. Results showed that the altered IL-1β GA, AA genotypes were high significant elevated in miscarriage women with toxoplasmosis (P=0.03), OR = 10 and 95 percent confidence intervals (1.32-81.48); (P=0.0007), OR = 0.07 and 95 percent confidence interval (0.01-0.32). The genotype GC at IL-6 (G/C) appears to be highly correlated with infection (P=0.01); OR = 3.18 and 95 percent confidence interval, (1.22- 8.30). In terms of allelic heterogeneity, C alleles were significantly more common in infected than uninfected cases for IL-6, while A allele is common in IL-1β single nucleotide polymorphisms (P =0.050). Furthermore, this study demonstrates that there is a strong and highly significant association between two forms of single nucleotide polymorphisms and the increased risk for toxoplasmosis. Genotypes of these polymorphism should be considered when evaluating genetic effects on toxoplasmosis incidence. However, to improve the prediction of this disease predisposition, a further study based on a larger cohort of patients is warranted(AU)


La toxoplasmosis es causada por la infección con el parásito protozoario Toxoplasma gondii, que tiene la capacidad de infectar a todos los animales de sangre caliente en todo el mundo. El propósito de esta investigación fue determinar la distribución de genotipos y alelos en mujeres con abortos espontáneos como resultado de la infección por Toxoplasma gondii asociada con polimorfismos de interleucina 1β e interleucina 6. Se inscribieron en este estudio un total de 125 mujeres con aborto espontáneo sospechosas de infección por toxoplasma y 50 embarazadas sanas, sin aborto espontáneo previo, como control. Los casos se examinaron para detectar IgM e IgG anti-toxoplasma mediante la prueba ELISA. Entre las 125 mujeres que sufrieron un aborto espontáneo, solo 50 fueron positivas a anticuerpos IgG e IgM anti-Toxoplasma gondii. El presente estudio se centró en analizar los genotipos de IL-6-174 G/C e IL-1β +3954 G>A para establecer las asociaciones entre polimorfismos genéticos e infección por Toxoplasma gondii. Los resultados mostraron que los genotipos alterados de IL-1β GA, AA fueron significativamente elevados en mujeres con aborto espontáneo con toxoplasmosis (P = 0,03), OR = 10 e intervalos de confianza del 95 por ciento (1,32-81,48); (P = 0,0007), OR = 0,07 e intervalo de confianza del 95 por ciento (0,01-0,32). El genotipo GC de IL-6 (G/C) parece estar altamente correlacionado con la infección (P = 0.01); OR = 3,18 e intervalo de confianza del 95%, (1,22- 8,30). En términos de heterogeneidad alélica, los alelos C fueron significativamente más comunes en los casos infectados que en los no infectados para la IL-6, mientras que el alelo A es común en los polimorfismos de nucleótido simple de IL-1β (P = 0.050). Además, este estudio demuestra que existe una asociación fuerte y altamente significativa entre dos formas de polimorfismos nucleótido simple y el mayor riesgo de toxoplasmosis. Se deben considerar los genotipos de estos polimorfismos al evaluar los efectos genéticos sobre la incidencia de la toxoplasmosis. Sin embargo, para mejorar la predicción de esta predisposición a la enfermedad, se justifica un estudio adicional basado en una cohorte más grande de pacientes(AU)


Subject(s)
Humans , Female , Pregnancy , Toxoplasmosis/epidemiology , Polymorphism, Single Nucleotide/genetics , Genotype
2.
Article in Spanish | LILACS, BDNPAR | ID: biblio-1337804

ABSTRACT

La resistencia a los antimicrobianos (RAM), representa un grave problema por el uso indiscriminado de antimicrobianos de amplio espectro. En nuestro país, durante el primer cuatrimestre del año, se observó un aumento inusual en el número de aislamiento de gérmenes multirresistentes, sobre todo de bacilos gramnegativos, los cuales fueron remitidos al laboratorio de referencia con el objetivo de caracterizar los genes de resistencia a los carbapenemes. Estudio observacional y prospectivo de corte transversal en 456 aislamientos de bacilos gramnegativos provenientes de 11 centros colaboradores de la Red Nacional de Vigilancia de la RAM, remitidos al Laboratorio Central de Salud Pública entre enero y abril de 2021, para la detección molecular (reacción en cadena de la polimerasa múltiple) de los genes de resistencia enzimática bla OXA-51, bla OXA-23, bla OXA-24, bla OXA-48, bla OXA-58, bla NDM, bla KPC, bla IMP, bla VIM. Trescientos sesenta correspondieron a bacilos gramnegativos no fermentadores: 346 Acinetobacter baumannii y 14 Pseudomonas aeruginosa; 96 fueron miembros de Enterobacterales, siendo prevalente Klebsiella pneumoniae (81). Todos los aislamientos de Acinetobacter baumannii resultaron ser productores de carbapenemasas: OXA-23 (94%), NDM (4%), NMD+OXA-58 (2%); en Pseudomonas aeruginosa, 7 de los 14 aislamientos (50%) fueron portadores de metalobetalactamasa del genotipo NDM (100%). Los genotipos NDM (92%) y KPC (8%) fueron confirmados en Enterobacterales. La resistencia plasmídica a carbapenemes es endémica en nuestro país, siendo prevalentes los genotipos OXA-23 en Acinetobacter baumannii y NDM en Pseudomonas aeruginosa y Enterobacterales


Antimicrobial resistance (AMR) represents a serious problem due to the indiscriminate use of broad-spectrum antimicrobials. During the first quarter of the year, an unusual increase in the number of isolation multi-resistant germs, especially gram-negative bacilli was observed, specially of Gram-negative bacilli which were referred to the reference laboratory in order to characterize the carbapenems resistance genes. Observational and prospective cross-sectional study in 456 isolates of Gram-negative bacilli from 11 collaborating centers of the National AMR Surveillance Network, referred to the Central Public Health Laboratory (LCSP) between January and April 2021, for molecular detection (multiple polymerase chain reaction) targeting the enzymatic resistance genes: bla OXA-51, bla OXA-23, bla OXA-24, bla OXA-48, bla OXA-58, bla NDM, bla KPC, bla IMP, bla VIM. Of the 456 isolates studied, 360 corresponded to non-fermenting Gram-negative bacilli, of which 346 were confirmed as Acinetobacter baumannii and 14 Pseudomonas aeruginosa; 96 were Enterobacterales, being Klebsiella pneumoniae (81) the most prevalent. All isolates of Acinetobacter baumannii carried genes encoding carbapenemases, being the OXA-23 (94%) followed by NDM (4%) and NDM +OXA-58 (2%). In Pseudomonas aeruginosa strains, 7 of the 14 isolates (50%) were carriers of NDM metallobetalactamase (100%). No carbapenemase gene was detected in the remaining 7. In all Enterobacterales strains, the presence of carbapenemases of the NDM (92%) and KPC (8%) genotypes were confirmed. Plasmid resistance to carbapenems is endemic in our country, being the OXA-23 genotypes prevalent in Acinetobacter baumannii and NDM in Pseudomonas aeruginosa and Enterobacterales


Subject(s)
Pseudomonas Infections , Acinetobacter baumannii , Carbapenem-Resistant Enterobacteriaceae , Pseudomonas aeruginosa , Bacteria , Drug Resistance , Polymerase Chain Reaction , Genotype
3.
Arq. ciências saúde UNIPAR ; 25(1): 61-77, jan-abr. 2021.
Article in Portuguese | LILACS | ID: biblio-1151421

ABSTRACT

A obesidade é caracterizada pelo aumento excessivo da gordura corporal e está ligada ao estilo de vida, ao meio ambiente e a genética do indivíduo. O equilíbrio entre ingestão e gasto energético é controlado por mecanismos neurais, hormonais, químicos e genéticos. Estudos sugerem que o gene FTO (Fat mass and obesity associated) atua como regulador primário do acúmulo de gordura corporal, quando associado a SNPs (Single Nucleotide Polymorphism) específicos, predispõe à obesidade. O propósito deste trabalho foi verificar a produção científica, analisar e catalogar os estudos de polimorfismos no gene FTO associados à obesidade e suas comorbidades. A busca por publicações entre 2009 e 2018 foi realizada na base de dados SciELO com a palavra-chave "FTO". Foram encontrados 23 artigos originais dentro dos critérios da pesquisa que correlacionam o FTO à obesidade. O nome do autor principal, país, idioma, ano de publicação, título, objetivo, polimorfismo associado e os resultados dos estudos foram extraídos e organizados para facilitar a tabulação dos dados. Também foram pesquisados os números de citações de cada artigo, utilizando-se a plataforma Google Acadêmico. Embora o Brasil se encontre em primeiro lugar em produção científica para o gene FTO na base de dados prospectada, o número de artigos originais ainda é muito modesto. Assim, os resultados encontrados podem servir de subsídio no delineamento de novas pesquisas sobre os polimorfismos do gene FTO e as causas da obesidade.


Obesity is characterized by the excessive increase in body fat and is correlated to the lifestyle, environment, and also to the genetics of the individual. The balance between energy intake and expenditure is controlled by neural, hormonal, chemical, and genetic mechanisms. Studies suggest that the FTO (fat mass and obesity associated), a gene associated with fat mass, plays a role as a primary regulator of body fat buildup, when associated to specific Single Nucleotide Polymorphisms (SNPs), causing predisposition to obesity. This paper aimed at reviewing, analyzing, and cataloguing the studies on FTO gene polymorphisms associated with obesity and its comorbidities. The search was carried out in SciELO database, checking articles published between 2009 and 2018 using the keyword "FTO". Twenty-three original articles, matching the research criteria, correlating FTO either positively or negatively with obesity, were found. The main author's name, country, language, year of publication, title, objective, associated polymorphism, and the study results were extracted and organized to facilitate data tabulation. The citation numbers for each article were also searched by using the Google Scholar platform. Although Brazil ranks first in scientific production on the FTO gene in the surveyed database, the number of original articles is still very modest. Therefore, the results found in this paper may be used as a basis for the design of new research on the FTO gene polymorphisms and the causes of obesity.


Subject(s)
Polymorphism, Single Nucleotide , Genetics , Obesity/genetics , Satiety Response , Energy Intake/genetics , Body Mass Index , Adipose Tissue , Lipid Metabolism/genetics , Nutrigenomics , Fats , Genotype , Life Style , Metabolism/genetics
4.
Rev. bras. anal. clin ; 53(1): 90-96, 20210330. tab, ilus
Article in Portuguese | LILACS | ID: biblio-1291778

ABSTRACT

Descrição: Relato de caso de um paciente com um transcrito raro (e1a2) na Leucemia Mieloide Crônica (LMC) e outro com uma translocação rara na Síndrome Mielodisplásica (SMD). Discussão: O transcrito e1a2 possui frequência de 1% entre os casos de LMC, já a translocação t(11,17)(q23;q21) não foi evidenciada em paciente com SMD do tipo Anemia Refratária com Excesso de Blastos (AREB) do tipo 2. Conclusão: Ambos os casos apresentados possuem associação incomum entre fenótipo e genótipo. A correlação da clínica com os achados laboratoriais é importante para a determinação fidedigna do diagnóstico e prognóstico destes pacientes.


Description: Case report of a patient with a rare transcript (e1a2) in Chronic Myeloid Leukemia (CML) and another with a rare translocation in Myelodysplastic Syndrome (SMD). Discussion: The transcript e1a2 has a frequency of 1% in CML cases, whereas t (11,17) (q23; q21) translocation was not observed in a patient with type of Refractory Anemia with Excess Blasts (AREB) type 2. Conclusion: Both cases reported have unusual association between phenotype and genotype. The correlation of the clinic with the laboratory findings is important for the reliable determination of the diagnosis and prognosis of these patients.


Subject(s)
Humans , Female , Middle Aged , Phenotype , Translocation, Genetic , Anemia, Refractory , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Leukemia , Hematologic Neoplasms , Genotype
5.
Article in English | WPRIM | ID: wpr-880674

ABSTRACT

The human leukocyte antigen (HLA) molecules encoded within the human major histocompatibility complex are a group of highly conserved cell surface proteins, which are related to antigen recognition. HLA genes display a high degree of genetic polymorphism, which is the basis of individual differences in immunity. Specific HLA genotypes have been highly associated with typical adverse drug reactions. HLA-A*31:01 and HLA-B*15:02 are associated with carbamazepine-induced severe cutaneous adverse reactions, HLA-B*57:01 is related to abacavir-induced drug-induced hypersensitivity syndrome and flucloxacillin/pazopanib-induced drug-induced liver injury, while HLA-B*35:01 is a potential biomarker for predicting polygonum multiflorum-induced liver injury. It is not clear how small drug molecules to interact with HLA molecules and T cell receptors (TCR). There are four mechanistic hypotheses, including the hapten/prohapten theory, the pharmacological interaction concept, the altered peptide repertoire model, and the altered TCR repertoire model.


Subject(s)
Drug-Related Side Effects and Adverse Reactions/genetics , Genotype , HLA Antigens/genetics , Humans , Polymorphism, Genetic
6.
Article in Chinese | WPRIM | ID: wpr-880169

ABSTRACT

OBJECTIVE@#To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province.@*METHODS@#Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP).@*RESULTS@#The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fy@*CONCLUSION@#The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.


Subject(s)
Blood Group Antigens/genetics , Ethnic Groups , Gene Frequency , Genotype , Humans , Kidd Blood-Group System , Polymorphism, Genetic
7.
Article in Chinese | WPRIM | ID: wpr-880168

ABSTRACT

OBJECTIVE@#To investigate the indentification method of samples mistyped as O phenotype and to explore the precision transfusion strategy.@*METHODS@#The blood samples from donors and patients admitted in our center from 2018 to 2019 was collected. The samples with O phenotype suspected subtypes were further determined by tube test, adsorption-elution test, etc. Molecular testing was used to sequence the related blood type genes of the subjects.@*RESULTS@#Among 14 subjects misjudged as O, 11 different genotypes were identified, in which 3 blood donors were Ael02/O02, Bel03/O02, and one para-Bombay with B101/O02 (FUT1: h3h3; FUT2: Se@*CONCLUSION@#The phenotypes of Ael, Bel, Aw and para-Bombay subtypes are easily misjudged as type O. Molecular technology is helpful to identify the genotype of subtypes, and the corresponding transfusion strategies could be reasonably performed.


Subject(s)
ABO Blood-Group System , Alleles , Blood Transfusion , Fucosyltransferases/genetics , Genotype , Humans , Phenotype
8.
Article in Chinese | WPRIM | ID: wpr-880160

ABSTRACT

OBJECTIVE@#To understand the genotypes and distribution characteristics of thalassemia in Baise, Guangxi Zhuang Autonomous Region, to provide references for the prevention and diagnosis of thalassemia in the region and improve the quality of eugenics.@*METHODS@#3 482 pregnant women and their spouses from January 2019 to August 2019 in Baise Maternal and Child Health Hospital for prenatal genetic diagnosis were selected, α, β- thalassemia genes were detected by Gap-PCR, PCR and DNA reverse dot hybridization, cases carrying thalassemia gene were confirmed and statistical analyzed.@*RESULTS@#2 260 samples (64.90%) carrying thalassemia gene were found, among which 1 459 cases (64.56%) were diagnosed as α- thalassemia, 617 cases (27.30%) as β- thalassemia, 184 cases (8.14%) as α complex β- thalassemia. Among 1 459 α- thalassemia genes, --SEA /αα(637 cases, 43.66%), -α3.7 /αα (306 cases, 20.97%), -αCS /αα(143 cases, 9.80%), -α4.2 /αα(124 cases, 8.50%) and -αWS /αα(77 cases, 5.27%) were the most common, while among 617 β- thalassemia genes, CD17 (229 cases, 37.12%), CD41-42 (213 cases, 34.52%), IVS-I-1 (41 cases, 6.65%), βE (38 cases, 6.16%) and CD71-72 (34 cases, 5.51%) were the most common. And --SEA /αα/ CD17 (24 cases, 13.04%), -α4.2 /αα/ CD17 (13 cases, 7.07%), -α3.7 /αα/ CD41-42 (12 cases, 6.52% ) and --SEA /αα/ CD41-42 (12 cases, 6.52%) were mainly found in 184 cases of α complex β - thalassemia.@*CONCLUSION@#Genotyes of thalassemia in Baise, Guangxi Zhuang Autonomous Region are complex and diverse. The prenatal screening and diagnosis of thalassemia in the region should be strengthened in accordance with the characteristics of genetypes in the region, in order to reduce birth defects and improve eugenics quality.


Subject(s)
Child , China , Female , Genotype , Humans , Mutation , Pregnancy , Prenatal Diagnosis , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
9.
Article in Chinese | WPRIM | ID: wpr-880159

ABSTRACT

OBJECTIVE@#To analyze the gene defect types and distribution characteristics of α- and β-thalassemia in Lingui District of Guilin City, Guangxi, so as to provide scientific basis for genetic consultation and prevention measures.@*METHODS@#A total of 6 496 suspected cases for screening the thalassemia during physical examination, premarital examination, pregnancy examination and hospitalization in the Second Affiliated Hospital of Guilin Medical University from May 2016 to October 2019 were analyzed. Gap-PCR, PCR-RDB and DNA sequencing techniques were used to detect the types and constituent ratios of gene defects in α- and β-thalassemia positive cases.@*RESULTS@#Among 6 496 suspected patients, 1 363 were thalassemia carriers, the total positive rate was 20.98%. There were 677 cases of single-gene deletion and 26 cases of double-gene detetion on the deletional α-thalassemia, 115 cases of non-deletion α-thalassemia mutation and 4 cases of deletion plus mutation. The positive rate of α-thalassemia was 12.66%. There were 11 gene abnormalities for α-thalassemia, of which --@*CONCLUSION@#Lingui district of Guilin city is a high incidence area of thalassemia. The mutation rate of α-thalassemia --


Subject(s)
China/epidemiology , Female , Genotype , Heterozygote , Humans , Mutation , Pregnancy , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
10.
Article in Chinese | WPRIM | ID: wpr-880134

ABSTRACT

OBJECTIVE@#To investigate the relationship between single nucleotide polymorphisms (SNPs) of IKAROS family Zinc finger 3 (IKZF3) gene and the risk of acute lymphoblastic leukemia (ALL) in children.@*METHODS@#The peripheral blood samples from 286 children with ALL and 382 healthy children were collected and divided into ALL group and control group, respectively. The genotypes of IKZF3 gene at rs62066988 C > T and rs12946510 C > T were detected by quantitative PCR with TaqMan detection system, and their correlation with ALL was analyzed.@*RESULTS@#The distribution frequencies of CC, CT and TT genotypes at rs62066988 in ALL group were 58.39%, 37.06% and 4.55%, respectively, while those in control group were 69.19%, 27.68% and 3.13%, respectively. The distribution frequencies of CC, CT and TT genotypes at rs12946510 in ALL group were 58.16%, 34.75% and 7.09%, respectively, while those in control group were 55.76%, 37.43% and 6.81%, respectively. Compared with the control group, the distribution frequency of CT/TT genotype at rs62066988 was significantly increased in the ALL group (OR=1.59, 95%CI: 1.16-2.19, P=0.004). However, there was no significant difference in the distribution of rs12946510 C > T polymorphism between ALL group and control group.@*CONCLUSION@#The CT/TT genotype of IKZF3 at the site of rs62066988 is associated with the increased risk of ALL in children.


Subject(s)
Alleles , Case-Control Studies , Child , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Ikaros Transcription Factor/genetics , Polymorphism, Single Nucleotide , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics
11.
Article in Chinese | WPRIM | ID: wpr-880119

ABSTRACT

OBJECTIVE@#To detecte the carrying rate, the type and distribution of α-Thalassemia gene mutation in Honghe Prefecture, Yunnan Province, and analyze the differences in average erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin among different types of α-Thalassemia.@*METHODS@#The DNA samples from small cell hypochromic carriers or anemia patients and women of childbearing age who underwent hematological screening in The First People's Hospital of Honghe State was from 2015 to 2019 were enrolled and analyzed, and the mutation types and frequency of alpha-thalassemia positive rate were diagnosed by PCR reverse dot blot or PCR fluorescence dissolution curve.@*RESULTS@#Among the 1 016 samples, 141(13.88%) of the patients were diagnosed as α-thalassemia. The α-thalassemia was subdivided into 3 types, silent (36.17%), minor (51.77%), and HbH disease (12.06%), and the MCV, MCH and HB levels were detected and showed a obvious decrease trend with significant difference (P < 0.05). The gene mutation types were 9 kinds, the deletion type gene was mainly --SEA (51.06%), followed by -α@*CONCLUSION@#Alpha-thalassemia in Honghe prefecture of Yunnan Province shows complex genetic diversity and significant genetic heterogeneity, and the mainly type of gene mutation is --SEA and --


Subject(s)
China , Female , Genotype , Heterozygote , Humans , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia
12.
Article in Chinese | WPRIM | ID: wpr-880088

ABSTRACT

OBJECTIVE@#To establish a method for rapid detection and typing of NPM1 mutations in acute myeloid leukemia (AML) by fluorescence melting curve analysis technology.@*METHODS@#A pair of primers and a fluorescent single-stranded probe (molecule beacon) were designed for the mutant genes mutA, mutB, mutD in exon 12 of nucleopsin (NPM1) and wild type. With a real-time qPCR, the A, B, and D gene mutations of NPM1 were detected and typed by different-melting curve peak value of the probe through RT-PCR.@*RESULTS@#This method could detected the mutations of A, B, and D in NPM1 effectively with a sensitivity of 1%. Furthermore, 62 AML clinical samples were evaluated by the method. In the results, the detection rate and typing of NPM1 mutations were consistent with the sequencing results of clinical samples.@*CONCLUSION@#There are three features in the method of fluorescence melting curve analysis: stable PCR system, easy to operate, and the easily distinguishable results. The method might meet the demand for rapid typing of NPM1 gene mutation in early diagnosis or concomitant diagnosis of AML.


Subject(s)
Exons , Genotype , Humans , Leukemia, Myeloid, Acute/genetics , Mutation , Nuclear Proteins/genetics
13.
Article in Chinese | WPRIM | ID: wpr-880083

ABSTRACT

OBJECTIVE@#To analyze the prognostic factors of AML children with CBFβ/MYH11 positive.@*METHODS@#Twenty-eight children with CBFβ/MYH11 positive treated in our hospital from May 2012 to June 2018 were selected, the clinical data and curative were analyzed and evaluated.@*RESULTS@#Five-year OS and 5-year EFS rate of CBFβ/MYH11 positive AML children was 76.8% and 64.0% efficacy, respectively. Univariate analysis results showed that the OS rate of CBFβ/MYH11 positive AML children with WBC<60.0×10@*CONCLUSION@#WBC level and XRCC-Thr241Met genotype at initial diagnosis are the major affecting factors for prognosis of AML children with CBFβ/MYH11 positive.


Subject(s)
Child , Chromosome Inversion , Genotype , Humans , Leukemia, Myeloid, Acute/genetics , Myosin Heavy Chains , Oncogene Proteins, Fusion , Prognosis
14.
Article in Chinese | WPRIM | ID: wpr-880060

ABSTRACT

OBJECTIVE@#To analyze the polymorphism of the HPA1-5,15 system of the donors in Zhangjiakou area.@*METHODS@#DNA was extracted from the blood samples of the donors, PCR- SSP method was used to divide HPA1-6, 15 genotype. The gene frequency and genotype frequency were calculated, compared with the difference and regiahal specificity of the populations in our country and foregiens was compared other populations.@*RESULTS@#The gene expression in the HPA-1, HPA-2 and HPA-4 systems were all homozygous aa, and the donors who expressed homozygous bb was not exessed. Among them, one heterozygous ab expression was found in both HPA-1 and HPA-4 systems (1%), and 14 cases of heterozygous ab expression were found in HPA-2 system (14%). The gene expression in the HPA-5 system was mainly homozygous aa (98%), and a very few expressed homozygous bb (2%) was found. The degree of heterozygosity of gene expression in the HPA-3 and HPA-15 systems was relatively high. The proprotion of the expression of aa, ab and bb in the HPA-3 system was respectively 46%, 40% and 14%, the proprotion of the expression of aa, ab and bb in the HPA-15 system was respectively 21%, 64% and 15%.@*CONCLUSION@#The gene frequency of platelet-specific antigen HPA1-5,15 system in zhangjiakou region shows local characteristics. The heterozygosity degree of gene expression in the HPA-3 and HPA-15 systems are both high, suggesting that they are more likely to result in alloimmunization and ineffective platelet transfusion, which should be pays attention to.


Subject(s)
Antigens, Human Platelet/genetics , Blood Donors , Gene Frequency , Genotype , Humans , Polymorphism, Genetic
15.
Article in Chinese | WPRIM | ID: wpr-880058

ABSTRACT

OBJECTIVE@#To explore the value of PCR-flow fluorenscence immunmicrobeads assay in prenatal gene diagnosis of thalassemia.@*METHODS@#A total of 1001 pregnant women and their couples checked in the First Affiliated Hospital of Sun Yat-Sen University from January 2016 to August 2019 were selected. Both pregnant women and their spouses were the carriers of thalassemia gene. Samples such as amniotic fluid, were used to extract genomic DNA at the right time. Parallel detection of α- and β- thalassemia genes to samples should be carried out by PCR-flow cytometric fluorescence hybridization and traditional multiple Gap-PCR and PCR-RDB techniques. The consistency of two methods in gene diagnosis of thalassemia was evaluated by analyzing the results of detection.@*RESULTS@#389 normal genotypes (38.86%, 389/1001) and 59 abnormal genotypes (61.14%, 612/1001) was cheked out by the two methods, including 416 cases of α-thalassemia, 162 cases of β-thalassemia and 34 cases of αβ- complex thalassemia. The main genotypes of α-thalassemia were --@*CONCLUSION@#Guangzhou is a area with high incidence of thalassemia, and the genetic types of thalassemia are complex and diverse. Prenatal diagnosis is the final barrier to the prevention of thalassemia. PCR flow-cytometric fluorescence hybridization, as a simple and fast technique, combined with traditional techniques in parallel contributed to the accuracy of prenatal gene diagnosis of thalassemia.


Subject(s)
China , Female , Genotype , Humans , Mutation , Polymerase Chain Reaction , Pregnancy , Prenatal Diagnosis , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
16.
Article in Chinese | WPRIM | ID: wpr-880051

ABSTRACT

OBJECTIVE@#To understand the carrying rate, gene mutation frequency and composition ratio of thalassemia in pregnant women in Suxian and Beihu districts of Chenzhou, Hunan Province.@*METHODS@#Thalassemia gene in 11 212 samples was analyzed by using Next-Generation Sequencing.@*RESULTS@#Among the 11 212 samples, 938 were diagnosed as thalassemia, in which 618 (5.51%) were diagnosed as α-thalassemia, 268 (2.39%) as β-thalassemia, 29(0.26%)as abnormal hemoglobin and 23 (0.21%) as αβ-thalassemia. The gene mutations of --SEA /αα(40.29%) and -α3.7/αα(37.7%) in α-thalassemia were the most common, while for β- thalassemia, the most commonly gene mutation were β41-42M/βN(24.26%) and β654M/βN(23.88%). The detection rate of rare type α,β-thalassemia gene was 0.19%(21/11 212), 0.53%(59/11 212), respectively.@*CONCLUSION@#The carrying rate of thalassemia in pregnant women is 8.37% in Suxian and Beihu districts of Chenzhou city, and the genotypes are complex. Next-Generation Sequencing can detect rare thalassemia genes and new gene mutations effectively.


Subject(s)
China , Female , Genotype , Hemoglobins, Abnormal , High-Throughput Nucleotide Sequencing , Humans , Mutation , Pregnancy , Pregnant Women , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
17.
Article in Chinese | WPRIM | ID: wpr-880023

ABSTRACT

OBJECTIVE@#To investigate the correlation of receptor gene (P2X7, VDR and SLC19A1) polymorphisms with risk suffering from acute leukemia (AL) in Fujian area.@*METHODS@#Ninety-three cases of newly diagnosed AL as AL group and 90 persons not suffered from hematologic and other tumors as control group were selected and used for comparative analysis of receptor gene polymorphisms and risk suffering from AL between case and control groups. The bone marrow and peripheral blood were collected, from which the DNA was extracted. The PCR-RFLP was used to detect 8 SNP sites (P2X7: rs208294, rs2230911, rs3751143; VDR: rs2228570, rs7975232; SLC194A1: rs1051266, rs1131596, rs3788200) of receptor genes related with the environment response, and the genotypes analysis was used to the correlation of receptor gene polymorphisms with risk suffering from adult AL.@*RESULTS@#The unvariate logistic analysis showed that as compared with control group, P2X7 rs208294 T>C mutation and rs3751143 A>C mutation in codominant model, dominant model and over-dominant model were higher in case group, moreover the differences were statistically significant (PA mutation could increase the risk suffering from AL (PC mutation is one of protective factors against adult acute leukemia.


Subject(s)
Adult , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Homozygote , Humans , Leukemia, Myeloid, Acute , Polymorphism, Genetic , Polymorphism, Single Nucleotide , Receptors, Purinergic P2X7
18.
Article in Chinese | WPRIM | ID: wpr-879892

ABSTRACT

OBJECTIVE@#To study the association between maternal reduced folate carrier (@*METHODS@#A hospital-based case-control study was conducted. The mothers of 683 infants with CHD who attended the Department of Cardiothoracic Surgery, Hunan Children's Hospital, from November 2017 to March 2020 were enrolled as the case group. The mothers of 740 healthy infants without any deformity who attended the hospital during the same period of time were enrolled as the control group. A questionnaire survey was performed to collect the exposure data of subjects. Venous blood samples of 5 mL were collected from the mothers for genetic polymorphism detection. A multivariate logistic regression analysis was used to evaluate the association of @*RESULTS@#After control for confounding factors, the multivariate logistic regression analysis showed that maternal @*CONCLUSIONS@#Maternal


Subject(s)
Case-Control Studies , Child , Female , Genetic Predisposition to Disease , Genotype , Heart Defects, Congenital/genetics , Humans , Infant , Polymorphism, Single Nucleotide , Reduced Folate Carrier Protein/genetics , Risk Factors
19.
Article in Chinese | WPRIM | ID: wpr-879625

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation.@*METHODS@#Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Genetic variants were detected by using next-generation sequencing using a skin-disease panel through targeted capture and next generation sequencing. Candidate variant was verified by Sanger sequencing. All literature related to genetic testing of XLHED patients in China was searched in the database, and the genotypes and phenotypes of patients in the literature and the correlation between them were statistically analyzed.@*RESULTS@#A novel splice site variant c.655_689del was detected in the patient but not among his parents and the 100 unrelated healthy controls. So far 61 variants of the EDA gene have been identified among Chinese patients with XLHED, which suggested certain degree of genotype-phenotype correlation.@*CONCLUSION@#A novel c.655_689del variant has been identified in the EDA gene, which has expanded the spectrum of EDA gene variant and facilitated delineation of the genotype-phenotype correlation of XLHED.


Subject(s)
Child , China , Ectodermal Dysplasia 1, Anhidrotic/genetics , Ectodysplasins/genetics , Genetic Testing , Genotype , Humans , Phenotype
20.
Article in Chinese | WPRIM | ID: wpr-879613

ABSTRACT

OBJECTIVE@#To study the serological, molecular and genetic characteristics of an individual with para-Bombay blood group.@*METHODS@#Serological method was used to detect the presence of A, B, H antigens in red blood cells and saliva, and Sanger sequencing was used to analyze the FUT1 gene of the proband and her family members. Genetic mechanism of the blood group was analyzed by pedigree analysis.@*RESULTS@#Forward and reverse typing of the ABO blood group were inconsistent for the proband. A, B and H antigens were not found on erythrocytes, while B and H antigens were found in saliva, in addition with unexpected antibodies. The proband was found to have a genotype of ABO*B.01/ABO*O.01.04 caused by homozygous variant of c.948C>A (p.Tyr316Ter) of the FUT1 gene.@*CONCLUSION@#A novel para-Bombay blood group was identified, which was due to the missense variant of c.948C>A in the coding region of the FUT1 gene, which has probably resulted in inability to synthesis active H antigen transferase.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Female , Fucosyltransferases/genetics , Genotype , Homozygote , Humans , Phenotype
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