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1.
Electron J Biotechnol ; 49: 72-81, Jan. 2021. tab, graf
Article in English | LILACS | ID: biblio-1291929

ABSTRACT

BACKGROUND: Persimmon (Diospyros kaki Thunb.) is the most widely cultivated species of the genus Diospyros. In this study, genetic diversity and variations in persimmon genotypes were investigated using single nucleotide polymorphism (SNP) markers identified by genotyping-by-sequencing (GBS) analysis. RESULTS: Ninety-five persimmon accessions grown in the Pear Research Institute, National Institute Horticultural and Herbal Science, were sequenced using the Illumina Hiseq2500 platform and polymorphic SNPs were detected to develop molecular markers. These reliable SNPs were analyzed using the Kompetitive Allele Specific PCR (KASP) assay to discriminate among persimmon genotypes. GBS generated a total of 447,495,724 trimmed reads, of which 89.7% were raw reads. After demultiplexing and sequence quality trimming, 108,876,644 clean reads were mapped to the reference transcriptome. An average of 1,146,070 genotype reads were mapped. Filtering of raw SNPs in each sample led to selection of a total of 1,725,401 high-quality SNPs. The number of homozygous and heterozygous SNPs ranged from 1,933 to 6,834 and from 846 to 5,927, respectively. CONCLUSIONS: Of the 49 SNPs selected for development of an identification system for persimmons, 15 SNPs were used in the KASP assay to analyze 32 persimmon accessions. These KASP markers discriminated among all accessions.


Subject(s)
Polymerase Chain Reaction/methods , Diospyros/genetics , Genetic Variation , Genetic Markers , Chromosome Mapping , Polymorphism, Single Nucleotide/genetics , Alleles , Genotyping Techniques , Homozygote
2.
Article in English | WPRIM | ID: wpr-922388

ABSTRACT

OBJECTIVES@#To study the natural history of spinal muscular atrophy (SMA) in Chongqing and surrounding areas, China, and to provide a clinical basis for comprehensive management and gene modification therapy for SMA.@*METHODS@#A retrospective analysis was performed on the medical data and survival status of 117 children with SMA.@*RESULTS@#Of the 117 children, 62 (53.0%) had type 1 SMA, 45 (38.5%) had type 2 SMA, and 10 (8.5%) had type 3 SMA, with a median age of onset of 2 months, 10 months, and 15 months, respectively. Compared with the children with type 2 SMA or type 3 SMA, the children with type 1 SMA had significantly shorter time to onset, consultation, and confirmed diagnosis (@*CONCLUSIONS@#There are differences in clinical manifestations and survival rates among children with different types of SMA. The children with type 1 SMA have a low survival rate, and those with type 2 SMA may have non-linear regression of motor ability. Early identification and management of SMA should be performed in clinical practice.


Subject(s)
Child , Homozygote , Humans , Infant , Muscular Atrophy, Spinal/genetics , Retrospective Studies , Sequence Deletion , Spinal Muscular Atrophies of Childhood/genetics
3.
Article in Chinese | WPRIM | ID: wpr-922040

ABSTRACT

The overall prevalence of uniparental disomy (UPD) across all chromosomes was estimated to be around one birth in 2000. To date, more than 4170 UPD cases have been registered. UPD for chromosomes 6, 7, 11, 14, 15, and 20 can result in clinically recognizable imprinting disorders due to abnormal levels of imprinted gene expression. For other chromosomes, the clinical consequences associated with UPD are not apparent, unless when a recessive genetic disorder is unmasked by UPD or regions of homozygosity (ROH). A clinical practice guideline will assist in strengthening the precise analysis and interpretation of the clinical significance of ROH/UPD. This guideline summarizes the conception, mechanism and clinical consequences of ROH/UPD, as well as the principles for data analysis, with an aim to standardize the clinical application and data interpretation.


Subject(s)
Gene Expression , Genomic Imprinting , Homozygote , Humans , Uniparental Disomy/genetics
4.
Article in Chinese | WPRIM | ID: wpr-922015

ABSTRACT

The overall prevalence of uniparental disomy (UPD) across all chromosomes was estimated to be around one birth in 2000. To date, more than 4170 UPD cases have been registered. UPD for chromosomes 6, 7, 11, 14, 15, and 20 can result in clinically recognizable imprinting disorders due to abnormal levels of imprinted gene expression. For other chromosomes, the clinical consequences associated with UPD are not apparent, unless when a recessive genetic disorder is unmasked by UPD or regions of homozygosity (ROH). A clinical practice guideline will assist in strengthening the precise analysis and interpretation of the clinical significance of ROH/UPD. This guideline summarizes the conception, mechanism and clinical consequences of ROH/UPD, as well as the principles for data analysis, with an aim to standardize the clinical application and data interpretation.


Subject(s)
Gene Expression , Genomic Imprinting , Homozygote , Humans , Practice Guidelines as Topic , Uniparental Disomy/genetics
5.
Article in Chinese | WPRIM | ID: wpr-921959

ABSTRACT

OBJECTIVE@#To report the clinical manifestation and genetic characteristics of a child with Thiamine metabolism dysfunction syndrome 5.@*METHODS@#Clinical data and genetic results were collected and analyzed. Peripheral blood samples of the child and their parents were collected for whole exome sequencing, and the functional effect of the variants on the TPK1 enzyme activity was verified by an in vitro assay.@*RESULTS@#A four-year-old boy presented with preschool onset of ataxia were characterized. High-throughput sequencing identified a novel homozygous variant of TPK1 gene c.382G>A (p.Leu128Phe). His father and mother were both found carrying the variant. The variant protein showed a 30.9% reduction in TPK1 enzyme activity compared with the wildtype.@*CONCLUSION@#A novel pathogenic variant has been identified in a boy with thiamine metabolic dysfunction syndrome type 5.


Subject(s)
Child, Preschool , Genetic Testing , Homozygote , Humans , Male , Mutation , Thiamine , Whole Exome Sequencing
6.
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
7.
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
8.
Article in Chinese | WPRIM | ID: wpr-879586

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a patient featuring Rotor syndrome.@*METHODS@#Clinical data of the patient was collected. Whole exome sequencing (WES) based on high-throughput sequencing technology was carried out. Long-interspersed element-1 (LINE-1) insertion in intron 5 of the SLCO1B3 gene was detected by using tri-primer single tube PCR.@*RESULTS@#WES revealed that the patient has carried homozygous c.1738C>T nonsense variants of the SLCO1B1 gene. He was also found to harbor a homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene, which has caused skipping of exon 5 or exons 5 to 7 and introduced a stop codon in the SLCO1B3 transcript.@*CONCLUSION@#The homozygous c.1738C>T variant of the SLCO1B1 gene and homozygous insertion of LINE-1 in intron 5 of the SLCO1B3 gene probably underlay the Rotor syndrome in this patient.


Subject(s)
Exons/genetics , Homozygote , Humans , Hyperbilirubinemia, Hereditary , Introns/genetics , Liver-Specific Organic Anion Transporter 1 , Male , Whole Exome Sequencing
9.
Article in Chinese | WPRIM | ID: wpr-879536

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with amyloidosis cutis dyschromica.@*METHODS@#High-throughput sequencing was carried out for the proband. Bioinformatic analysis was used to identify the pathogenic variants. The result was verified by Sanger sequencing.@*RESULTS@#A homozygous nonsense variant c.565C>T (p.Arg189X) of the GPNMB gene was identified in the proband, his elder brother and younger sister, which resulted a truncated protein with loss of function. The father of the proband was a heterozygous carrier for the variant. The genotype of his mother was unknown since she had passed away. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.565C>T variant was predicted to be likely pathogenic (PS3+ PM2+ PP1+PP3).@*CONCLUSION@#The novel homozygous GPNMB variant probably underlay the amyloidosis cutis dyschromica in this pedigree. Above finding has expanded the spectrum of GPNMB gene variants.


Subject(s)
Amyloidosis, Familial/genetics , China , Female , Homozygote , Humans , Male , Membrane Glycoproteins/genetics , Mutation , Pedigree
10.
Rev. chil. pediatr ; 91(3): 417-423, jun. 2020. graf
Article in Spanish | LILACS | ID: biblio-1126181

ABSTRACT

Resumen: Introducción: La trombosis senovenosa cerebral neonatal (TSVC), es una patología rara y generalmente grave, de la cual se conoce poco sobre los mecanismos fisiopatológicos responsables y, aunque controvertido, se ha sugerido que la trombofilia genética, puede desempeñar un rol en la patogénesis. Debido a los temores de un sangrado intracraneal el tratamiento anticoagulante con heparina de bajo peso mole cular es controvertido. Objetivo: presentar un recién nacido con una trombosis senovenosa cerebral neonatal, discutir los factores de riesgo trombofílico, y el manejo con heparina de bajo peso molecu lar de la trombosis venosa cerebral. Caso Clínico: Recién nacido de término que debutó a los 8 días de vida con convulsiones clónicas, rechazo al pecho más hipoactividad motora. La neuroimagen con RM mostró una TSVC involucrando múltiples senos venosos, un infarto hemorrágico talámico dere cho y congestión venosa de la sustancia blanca frontal. El estudio de trombofilia puso de relieve una mutación homocigota del gen MTHFR C677T. El tratamiento con heparina de bajo peso molecular se asoció a repermeabilización del seno sagital superior a los 23 días de iniciada la terapia. Conclusio nes: La presentación clínica de la TSVC en el neonato es inespecífica, probablemente en relación con la extensión y gravedad de la lesión y el desarrollo de complicaciones asociadas, como infartos he morrágicos venosos intraparenquimatosos o hemorragia intraventricular. Estas complicaciones son detectables mediante Ecografia o Resonancia Magnética, y deben hacer sospechar una TSVC. En esta experiencia el tratamiento anticoagulante mostró ser seguro y prevenir la extensión de la trombosis.


Abstract: Introduction: Neonatal cerebral sinovenous thrombosis (CSNT) is a rare and generally serious con dition about which there is little knowledge of the responsible pathophysiological mechanisms and, although controversial, it has been suggested that genetic thrombophilia may play a role in its patho genesis. Out of concern for intracranial bleeding, the anticoagulant treatment with low-molecular- weight heparin is controversial. Objective: To present a case of a newborn with neonatal CSNT, to analyze the thrombophilic risk factors, and the management of cerebral venous thrombosis with low-molecular-weight heparin. Clinical Case: Full-term newborn who presented at eight days of life breastfeeding rejection, clonic seizures, and locomotor hypoactivity. The MRI neuroimaging showed a CSNT involving multiple venous sinuses, a right thalamic hemorrhagic infarction, and venous congestion in frontal white matter. Thrombophilia study highlighted a homozygous MTHFR C677T mutation. Treatment with low-molecular-weight heparin was associated with repermeabilization of the superior sagittal sinus after 23 days of starting therapy. Conclusions: The clinical presentation of CSNT in the neonate is nonspecific, probably related to the extent and severity of the injury and the development of associated complications, such as venous hemorrhagic infarctions and intraparenchymal or intraventricular hemorrhage. These complications are detected through ultrasound or MRI, and they should make us suspect a CSNT. In this experience, the anticoagulant treatment proved to be safe and prevents thrombus propagation.


Subject(s)
Humans , Female , Infant, Newborn , Sinus Thrombosis, Intracranial/diagnosis , Sinus Thrombosis, Intracranial/etiology , Enoxaparin/therapeutic use , Methylenetetrahydrofolate Reductase (NADPH2)/deficiency , Homocystinuria/diagnosis , Muscle Spasticity/diagnosis , Anticoagulants/therapeutic use , Psychotic Disorders/complications , Psychotic Disorders/diagnosis , Psychotic Disorders/genetics , Sinus Thrombosis, Intracranial/drug therapy , Genetic Markers , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Homocystinuria/complications , Homocystinuria/genetics , Homozygote , Muscle Spasticity/complications , Muscle Spasticity/genetics , Mutation
11.
Article in Chinese | WPRIM | ID: wpr-781294

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a child with idiopathic mental retardation.@*METHODS@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*RESULTS@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*CONCLUSION@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.


Subject(s)
Child , Comparative Genomic Hybridization , High-Throughput Nucleotide Sequencing , Homozygote , Humans , Intellectual Disability , Genetics , Proteins , Genetics
12.
Article in Chinese | WPRIM | ID: wpr-879492

ABSTRACT

OBJECTIVE@#To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics.@*METHODS@#A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. The genotypes of suspected β gene cluster deletions were analyzed by Gap-PCR and multiplex ligation-dependent probe amplification (MLPA). Their hematological characteristics were compared by statistical analysis R software.@*RESULTS@#Eighty-nine cases were detected with Chinese @*CONCLUSION@#The carrier rate for large fragment deletions of β gene cluster in Huizhou region is rather high, for which the value of HbF is significantly increased. Attention should be paid to screening and diagnosis of rare genotype to prevent missed diagnosis and/or misdiagnosis.


Subject(s)
Gene Deletion , Homozygote , Humans , Multigene Family/genetics , Phenotype , beta-Thalassemia/genetics
13.
Article in Chinese | WPRIM | ID: wpr-879476

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a pedigree affected with Charcot-Marie-Tooth (CMT) disease through high-throughput sequencing.@*METHODS@#Potential variants of the genes associated with CMT were screened by next-generation sequencing (NGS) of the members of the pedigree.@*RESULTS@#NGS has revealed that the two affected sisters both harbored homozygous c.1A>G variant of the GDAP1 gene, which caused replacement of the first amino acid Methionine by Valine (p.Met1Val). Their parents were both carriers of the heterozygous c.1A>G variant. The variant was unreported previously and has an extremely low frequency in the population. Meanwhile, one of the sisters and the mother also carried heterozygous c.710A>T variant of the BAG3 gene.@*CONCLUSION@#The homozygous c.1A>G variant of the GDAP1 gene probably underlay the CMT in both children. Above result has enabled clinical diagnosis and genetic counseling for this pedigree.


Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Apoptosis Regulatory Proteins/genetics , Charcot-Marie-Tooth Disease/genetics , Child , Female , Fibula/abnormalities , Homozygote , Humans , Mutation , Nerve Tissue Proteins/genetics , Pedigree
14.
Borno Med. J. (Online) ; 17(1): 1-9, 2020. tab
Article in English | AIM, AIM | ID: biblio-1259677

ABSTRACT

Background: Homozygous sickle cell disease (HSCD) is the most common inherited blood disorder of public health importance worldwide, with Sub-Saharan Africa accounting for a third of the global burden. The effect of HbS on the kidneys results in sickle cell nephropathy, which contributes to increased mortality among HbSS patients beyond third decade of life. Glomerular filtration rate (GFR) is an important renal function test for evaluating progress of sickle cell nephropathy, however, this is seldom done to HbSS patients especially in the insurgency that devastated the North-eastern part of Nigeria, where displacement of people has led to increase in diarrhoeal diseases with its complications which also contributes to renal diseases, hence the need for this study. Objective: To determine the baseline glomerular filtration rate of homozygous SCD in steady state and compare same with normal controls. Methods: This is a prospective comparative study conducted at the University of Maiduguri Teaching Hospital (UMTH). The study population consisted of age and sex matched HbSS subjects in steady state and children with haemoglobin AA genotypeaged 3-14 years. The study was conducted over a period of 6 months. Anthropometry and serum creatinine of the subjects were determined and GFR calculated using Schwartz formula. Results: Two hundred and twenty children consisting 110 HbSS and 110 controls were enrolled. This consist of 106 males and 114 females with M:F ratio of 0.9:1. Mean ages of HbSS patients and HbAA subjects were 8.2years and 7.9 years respectively. The mean GFR (SD) was 125.9 (31.9) ml/min/1.73m2 and 93.0 (16.1) ml/min/1.73m2 for the HbSS and HbAA controls, the difference between the means was significant (P<0.001). The normal GFR range for the controls was 77 to 109 ml/min/1.73m2. Sixty-seven (61%) casesand 86 (78%) controls had GFRs within normal range. There was statistically significant difference for GFRs above and below the normal range (Z-score=6.2 & -2.9, p<0.001 & p<0.004). Conclusion: About a third of HbSS children in steady state have elevated GFR, this suggests the presence of moderate renal pathology. Regular monitoring of these children will lead to improvements in management of sickle cell nephropathy and their quality of life


Subject(s)
Anemia, Sickle Cell , Glomerular Filtration Rate , Homozygote , Magnetic Resonance Imaging , Nigeria
15.
Int. braz. j. urol ; 45(5): 1064-1070, Sept.-Dec. 2019. tab, graf
Article in English | LILACS | ID: biblio-1040062

ABSTRACT

ABSTRACT The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented.


Subject(s)
Humans , Male , Adult , Phenotype , Disorder of Sex Development, 46,XY/genetics , Homozygote , Mutation , Syndrome , Testicular Neoplasms/surgery , Testicular Neoplasms/genetics , Seminoma/surgery , Seminoma/genetics , Colombia , Cytogenetic Analysis , Cryptorchidism/surgery , Cryptorchidism/genetics , Anti-Mullerian Hormone/genetics , Disorder of Sex Development, 46,XY/surgery , Mullerian Ducts/abnormalities , Mullerian Ducts/surgery
16.
Article in Chinese | WPRIM | ID: wpr-771864

ABSTRACT

OBJECTIVE@#To investigate the gene mutations types and the clinical characteristics in 3 patients with hereditary coagulation factor Ⅶ deficiency.@*METHODS@#The phenotype diagnosis was validated by detecting the coagulation parameters including prothrombin time (PT),activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅦ activity (FⅦ: C) and specific antigens (FⅦ: Ag) of proband and its family members. All exons, exon-intron boundaries, 5' untranslated regions and 3' untranslated regions of F7 gene were amplified with PCR. Potential mutations were detected by direct sequencing of purified PCR products. Suspected mutations were confirmed by sequencing of the opposite strand.@*RESULTS@#A total of 5 different mutations were identified in 3 patients with hereditary coagulation factor Ⅶ deficiency and family members, including 4 misssense mutations and 1 splice site mutation. Out of 3 cases of hereditary coagulation factor Ⅶ deficiency 2 had double heterozygous mutation, I had homozygous mutations. Patient 1 had p.His408Gln with p.Arg413Gln double heterozygous mutations, her sister had p.His408Gln with p.Arg413Gln double heterozygous mutations, another one had p.His408Gln mono-heterozygous mutation, their correspo FⅦ: C were 5%, 3%, 75%. Patient 2 had p.Arg364Gln with p.His408Gln double heterozygous mutations, her brother had p.Arg364Gln with IVS6-1G>A double heterozygous mutations, their corresponding FⅦ: C were 2.0%, 2.0%. Patient 3 had p.Arg337Cys homozygous mutation, FⅦ: C was 3.0%.@*CONCLUSION@#A total of 5 different mutations were identified in 3 patients with hereditary coagulation factor Ⅶ deficiency, the p.His408Gln is a common mutation, the FⅦ: C and FⅦ: Ag have no correlation with clinical phenotypes.


Subject(s)
Factor VII , Factor VII Deficiency , Female , Heterozygote , Homozygote , Humans , Male , Mutation , Pedigree , Phenotype
17.
Article in English | WPRIM | ID: wpr-763677

ABSTRACT

BACKGROUND: The prevalence of nonalcoholic fatty liver disease (NAFLD) in patients with type 2 diabetes mellitus (T2DM) is high, though its severity is often underestimated. Our aim is to provide an estimate of the prevalence of severe NAFLD in T2DM and identify its major predictors. METHODS: T2DM patients (n=328) not previously known to have NAFLD underwent clinical assessment, transient elastography with measure of liver stiffness (LS) and controlled attenuation parameter (CAP), and genotyping for patatin like phospholipase domain containing 3 (PNPLA3) and 17β-hydroxysteroid-dehydrogenase type 13 (HSD17B13). RESULTS: Median LS was 6.1 kPa (4.9 to 8.6). More than one-fourth patients had advanced liver disease, defined as LS ≥7.9 kPa (n=94/238, 29%), and had a higher body mass index (BMI) than those with a LS <7.9 kPa. Carriage of the G allele in the PNPLA3 gene was associated with higher LS, being 5.9 kPa (4.7 to 7.7) in C/C homozygotes, 6.1 kPa (5.2 to 8.7) in C/G heterozygotes, and 6.8 kPa (5.8 to 9.2) in G/G homozygotes (P=0.01). This trend was absent in patients with ≥1 mutated HSD17B13 allele. In a multiple linear regression model, BMI and PNPLA3 genotype predicted LS, while age, gender, disease duration, and glycosylated hemoglobin did not fit into the model. None of these variables was confirmed to be predictive among carriers of at least one HSD17B13 mutated allele. There was no association between CAP and polymorphisms of PNPLA3 or HSD17B13. CONCLUSION: Advanced NAFLD is common among T2DM patients. LS is predicted by both BMI and PNPLA3 polymorphism, the effect of the latter being modulated by mutated HSD17B13.


Subject(s)
Alleles , Body Mass Index , Diabetes Mellitus , Diabetes Mellitus, Type 2 , Elasticity Imaging Techniques , Fibrosis , Genotype , Glycated Hemoglobin A , Heterozygote , Homozygote , Humans , Linear Models , Liver , Liver Diseases , Non-alcoholic Fatty Liver Disease , Phospholipases , Prevalence
18.
Article in Chinese | WPRIM | ID: wpr-776798

ABSTRACT

OBJECTIVE@#To explore clinical and genetic features of a pedigree affected with autosomal recessive neuromyotonia and axonal neuropathy (NMAN).@*METHODS@#For the proband and her parents, clinical data was collected, genomic DNA was extracted from peripheral blood samples. Triplet primed-PCR was carried out to detect dynamic mutation of DMPK and ZNF9 genes, which are responsible for myotonic dystrophy, by capillary electrophoresis. High-throughput sequencing was used to screen variants of candidate genes for Mendelian disorders involving the nervous system. Candidate variants were confirmed by Sanger sequencing. The genotype of the variant was determined in the parents and 100 healthy controls. Pathogenicity of the variant was assessed by ACMG criterion.@*RESULTS@#Mutation of DMPK and ZNF9 genes was excluded. DNA sequencing has identified a homozygous missense variant (c.335C>T, p.R119W) in the HINT1 gene. Both parents were found to carry the variant. The same variant was not found among the healthy controls. According to the ACMG criterion, the missense variant was classified as a pathogenic variant.@*CONCLUSION@#The c.335C>T (p.R119W) of the HINT1 gene probably underlie the disease in this pedigree. Above finding provided further evidence for the connection between HINT1 and NMAN and enriched the mutation spectrum of HINT1 gene.


Subject(s)
Female , Genotype , Homozygote , Humans , Isaacs Syndrome , Genetics , Nerve Tissue Proteins , Genetics , Pedigree
19.
Article in Chinese | WPRIM | ID: wpr-776768

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.@*METHODS@#Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.@*RESULTS@#A homozygous missense variation (c.56C>G, p.Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c.56C>G variation to be pathogenic.@*CONCLUSION@#Homozygous c.56C>G variation of the PARK7 gene was the disease-causing variation in this family.


Subject(s)
Consanguinity , Homozygote , Humans , Mutation, Missense , Parkinson Disease , Genetics , Pedigree , Protein Deglycase DJ-1 , Genetics
20.
Article in Chinese | WPRIM | ID: wpr-775792

ABSTRACT

OBJECTIVE@#To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family.@*METHODS@#Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing.@*RESULTS@#The proband was found to carry a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of inner ear and may cause premature termination of translation of TECTA protein. In addition, two heterozygous mutations, c.13010C>T and c.12790G>A, were found in the USH2A gene. Whilst the former is likely to be pathogenic, the latter has unknown clinical significance. Further analysis suggested that all three mutations have derived from the parents of the proband.@*CONCLUSION@#The homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance.


Subject(s)
Deafness , Extracellular Matrix Proteins , Genetics , Female , GPI-Linked Proteins , Genetics , High-Throughput Nucleotide Sequencing , Homozygote , Humans , Mutation , Pedigree
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