The aim of this study was to investigate the genetic polymorphism 20 short tandem repeat (STR) loci including D1S1656, D2S1338, D3S1358, D5S818, D6S1043, D7S820, D8S1179, D12S391, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, FGA, Penta D, E, TH01, TPOX, and vWA in Han population Henan, China assess its value forensic science. Genomic DNA extracted from 274 blood samples unrelated healthy individuals Henan population. Alleles were amplified with PowerPlex® 21 system kit PCR products...

Around the whole world, smoking is considered harmful to human health, such as increasing risk of cardiovascular disease (CVD, coronary heart and stroke) lung cancer. The purpose this study was explore whether nicotine, main component tobacco, has adverse effects on rate variability (HRV) in adolescents, so remind adolescents not smoke take pleasure abusing nicotine. In study, 40 male female young healthy nonsmoking subjects were selected analyze changes HRV after taking 4 mg nicotine...

DNA methylation is a crucial epigenetic modification of the genome which involved in embryonic development, transcription, chromatin structure, X chromosome inactivation, genomic imprinting and stability. Consistent with these important roles, has been demonstrated to be required for vertebrate early embryogenesis essential regulating temporal spatial expression genes controlling cell fate differentiation. Further studies have shown that abnormal associated human diseases including...

Background . Congenital heart defect (CHD) is one of the most common birth defects in world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTRR) genes are two important candidate for fetal CHD. However, correlations between CHD were inconsistent various reports. Therefore, this study aimed to evaluate parental effects on via three genetic polymorphisms, MTHFR 677C>T (rs1801133), 1298 A>C (rs1801131), MTRR 66A>G (rs1801394). Methods Parents with pregnancy...

The underlying mechanism of recurrent spontaneous abortion (RSA) has remained elusive for many years. Several previous studies have suggested that the killer cell immunoglobulin receptor (KIR) gene family is associated with RSA, however, it not clear exactly how. present study detected KIR and human leukocyte antigen‑C (HLA‑C) genes in 110 Han Chinese women unexplained RSA 105 healthy females. aim was to determine if certain genotypes were more susceptible occurrence miscarriage. frequency...

The discovery of cell-free DNA fetal (cff DNA) in maternal plasma during pregnancy provides a novel perspective for the development non‑invasive prenatal diagnosis (NIPD). Against background DNA, use relatively low concentration cff is limited NIPD. Therefore, order to overcome complication and expand scope application clinical practice, it necessary identify universal fetal‑specific markers. GeneChip Human Promoter 1.0R Array set was used present study analyze methylation status 12...

Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology provide a method prenatal diagnosis WS in Chinese families. A total 11 patients from five unrelated families were enrolled. thorough clinical examination was performed on all participants. Furthermore, underwent screening for mutations following genes: Paired box 3 (PAX3),...

INTRODUCTION Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is characterized by blue gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, radiological features, Sillence et al.[1] classified the OI into four subtypes including type I: Mild, common, with sclera; II: Perinatal lethal form; III: Severe age-related progressive deformity, normal IV: Moderate severity sclera....

INTRODUCTION Multiple epiphyseal dysplasia (MED; EDM1, OMIM 132400; EDM2, 600204; EDM3, 600969; EDM4, 226900; EDM5, 607078; EDM6, 614135) is an autosomal dominant inherited disease of the skeletal system, characterized by mild short stature and early-onset degenerative joint disease, caused heterogeneous genotypes involving more than six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3, DTDST).[1] However, in approximately 10–20% all samples analyzed, a mutation cannot be identified any mentioned...

Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it very important to avoid the birth of children DMD by prenatal diagnosis. We identified a de novo gene mutation in Chinese family, make

To assess the association of polymorphisms human leukocyte antigen DRB1 gene (HLA-DRB1) with susceptibility to unexplained recurrent spontaneous abortion (URSA).The HLA-DRB1 was typed polymerase chain reaction-specific sequence primers (PCR-SSP) method in 200 couples URSA and a normal pregnancy history.The frequencies DRB1*09 DRB1*13 alleles were significantly greater group compared control (14.50% vs. 9.50%, 7.00% 4.38%, both P<0.05), whilst DRB1*04 DRB1*12 lower (7.13% 10.75%, 8.63%...

To explore the effect of MTHFR and MTRR genes polymorphisms on chromosomes 18 21 non-disjunction through investigation Henan Han Chinese young females with a gestational history trisomy (Down syndrome, DS) or (Edwards ES).Polymorphisms 677C/T, 1298A/C 66A/G were analyzed in 73 healthy (controls group), 78 DS (DS group) 54 ES (ES by direct sequencing PCR products from amplification peripheral blood lymphocyte DNA.The frequency 677T allele was significantly different among group, group control...

To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD).Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion duplication of the Dystrophin gene. Haplotype analysis performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR DMD gene.A same deletional mutation (exons 51-55) gene detected in two brothers but not their mother. The patients fetus have inherited...

To investigate the efficiency of multiplex ligation-dependent probe amplification (MLPA) combined with short tandem repeat (STR) linkage analysis for prenatal diagnosis Duchenne muscular dystrophy (DMD).Gender fetus was first determined by presence Y chromosome sex-determining gene (SRY). Subsequently, MLPA and STR were applied probands, pregnant women fetuses in 45 affected families.Among families, 31 SRY-positive identified, among whom six diagnosed DMD. For 14 SRY-negative fetuses, four...

Objective To conduct genetic diagnosis and prenatal for a haemophilia B family with multi-nucleotides deletion mutation of F9 gene. Methods This is analysis. Whole exon the gene was analyzed by PCR Sanger sequencing seven patients hemophilia who consulted doctors in Henan Province People′s Hospital April 2013. Suspected verified among non-hemophilia members 100 healthy controls to rule out polymorphism gene. The above-mentioned detection results gene, pathogenic clarified, conducted...

To carry out genetic testing for a family affected with distal hereditary motor neuronopathy V (dHMN V).Potential mutations of the GARS and BSCL2 genes were analyzed PCR Sanger sequencing. Suspected mutation was verified among unaffected members 100 healthy controls. Prenatal diagnosis provided based on above results.Sequencing analysis has identified heterozygous c.269C>T (p.S90L) in gene, which resulted replacement Serine (TCG) to Leucine (TTG). The same found all other 3 patients from...

To explore the value of HLA-DRB1 gene in predicting outcome unexplained recurrent spontaneous abortion (URSA) treated with paternal lymphocyte alloimmunization therapy (PLAT) Henan Hans.Three hundred URSA patients were recruited. Following PLAT treatment, they divided into two groups according to pregnancy. Polymerase chain reaction sequence specific primer (PCR-SSP) conducted analyze gene.For those who have received frequency HLA-DRB1*11 was significantly lower successfully cases than...

To analyze the clinical manifestations and mutation of MYH9 gene in a large Chinese family affected with MYH9-related thrombocytopenia.After informed consent was obtained; examination history investigation performed on 29 members family. DNA extracted using standard method, then exons 1 to 40 their corresponding exon-intron junctions were amplified PCR subjected Sanger sequencing. The results compared reference sequence from University California, Santa Cruz (UCSC) screen mutation....