Résumé
Objective T o explore the genetic variation sites of caveolin (C A V ) and their correlation w ith sudden unexplained death (SU D ).Methods The blood sam ples w ere collected from SU D group (71 cases), coronary artery disease (C A D ) group (62 cases) and control group (60 cases), respectively. T he genom e D N A w ere extracted and sequencing w as perform ed directly by am plifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PC R . T he type of heritable variation of CVA w as con-firm ed and statistical analysis w as perform ed. Results A total of 4 variation sites that m aybe significa-tive w ere identified in SU D group, and tw o w ere new found w hich w ere CAV1: c.45C>T (T 15T ) and CAV1:c.512G>A (R 171H ), and tw o w ere SN P loci w hich w ere CAV1:c.246C>T (rs35242077) and CAV3:c.99C>T (rs1008642) and had significant difference (P<0.05) in allele and genotype frequencies betw een SU D and control groups. Forem entioned variation sites w ere not found in C A D group. Conclu-sion T he variants of CAV1 and CAV3 m ay be correlated w ith a part of SU D group.
Résumé
Objective The patients with non-syndromic deafness in Shanxi Province were retrospectively an_alyzed for the common deafness gene mutations and frequency of mutations carrying rate ,to understand the molecu_lar pathogenesis of deafness in Shanxi area .Methods Genomic DNAs of 800 patients of non -syndromic deafness within Shanxi were obtained from peripheral blood .Genes GJB2 ,GJB3 ,SLC26A4 and mitochondrial 12SrRNA 1494 and 1555 loci were sequenced after polymerase chain reaction (PCR) amplification and compared with the NCBI website for the analysis of the formation of mutations .ResuIts Among 800 patients ,353 cases (44 .13% ) showed detected deafness related mutations and the genetic etiology was found for 294 patients (36 .75% ) .Among them , 153 cases (19 .13% ) carried double allele mutations in the GJB2 gene .The most frequent mutation of GJB2 gene was 235delC ,and the carrying rate was 13 .5% (216/1 600) .The double mutant allele of SLC26A4 gene was detec_ted in 123 cases (15 .38% ) ,and the most common mutation was IVS7-2A>G ,identified in 7 .44% (119/1 600) of patients .Homogenic mitochondrial 12S rRNA 1494C> T mutation in one patient and 1555A> G mutation in 15 patients were detected .GJB3 gene c .538C > T heterozygous mutation was found in two patients .Altogether , 36 .75% (294/800) of patients with deafness were caused by gene mutations .ConcIusionThe data containing GJB2 gene and SLC26A4 gene carrying rate are consistent with the published data of non-syndromic deafness in the Northwest region of China ,but the carrying rate of mitochondrial gene mutations is lower than the average level of China .Our data show that the gene mutations contribute to 36 .75% of etiology in patients with deafness .This study reflects the importance of deafness related genes screening in Shanxi area for early diagnosis and genetic con_sultation .
Résumé
Objective To assess the patterns oflinkage disequilibrium (LD ) of16 STR loci on X chrom o-som e and investigate the genetic stability. Methods G enom ic DNA samples extracted from blood stains from 500 unrelated individuals and 885 lineage m em bers from E astern C hinese H an population were genotyped through m ultiplex am plification using ID typerX-16 kit by our independent research followed by capillary electrophoresis. LD was assessed by PowerM arker v3.25 software and m utation rate of every locus was analyzed. Results LD were not found at the 16 X-STR loci. A llele m utations were observed at 10 loci. A m ong them , m utation rates of DXS6809 and DXS7132 were both up to 0.004 8. Conclusion W hen the 16 X-ST R loci included in ID typerX-16 kit were used for parentage testing, product princi-ples can be applied to calculate the likelihood, but m utation should be taken into consideration in the case that the genotypes do not m eet the genetic law(especially at DXS6809 and DXS7132).