Study on the association between polymorphisms in angiotensinogen gene and deep venous thrombosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of polymorphism of angiotensinogen (AGT) -6G/A, -20A/C and T174M with the development of deep venous thrombosis.</p><p><b>METHODS</b>One hundred and three patients with deep venous thrombosis (DVT group) and 250 healthy subjects (control group) were recruited in the study. The polymorphisms of angiotensinogen -6G/A, -20A/C and T174M were detected by PCR-RFLP.</p><p><b>RESULTS</b>The prevalence of GA genotype of -6G/A in the DVT group was significantly higher than that in the control group(P< 0.05) and the prevalence of -20A/-6A/174T haplotype in the DVT group was lower than that in the control group(P< 0.05). There were no significant differences in the prevalence of -20A/C and T174M polymorphism.</p><p><b>CONCLUSION</b>The GA genotypes of -6G/A may increase the development of DVT and the -20A/-6G/174T haplotype may be a risk factor of DVT. However, the -20A/-6A/174T haplotype may be a protective factor of DVT.</p>

Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the significance of gene mutation of methylenetetrahydrofolate reductase (MTHFR) C677T, methionine synthase (MS) 2756 AG and cystathionine beta-synthase (CBS) 844ins68 in the development of deep venous thrombosis.</p><p><b>METHODS</b>One hundred and three cases of deep venous thrombosis (DVT group) and 250 healthy subjects (control group) were recruited in the study. The polymorphisms of MTHFR C677T, MS A2756G and CBS 844ins68 were detected by PCR-restriction fragment length polymorphism(PCR-RFLP).</p><p><b>RESULTS</b>The prevalences of TT genotypes of MTHFR (C677T) between DVT group and normal control group had significant difference (27.2% vs 17.2%, P< 0.05), the prevalence of AG genotypes of MS A2756G in the DVT group was less than that in the control group (9.7% vs 19.2%, P< 0.05). The prevalence of 677T-2756A haplotype in the DVT group was higher than that in the control group (P< 0.05), the prevalence of 677C-2756A haplotype in the DVT group was less than that in the control group (P< 0.05). There were no significant differences in the prevalences of CBS 844ins68 mutation.</p><p><b>CONCLUSION</b>The homozygote of MTHFR C677T (TT) may be a risk factor of DVT. MS A2756 G(AG) genotypes may reduce the development of DVT. The 677T-2756A haplotype may be a risk factor of DVT. The 677C-2756A haplotype may be a protective factor of DVT. The prevalence of gene mutation of CBS 844ins68 might vary with different ethnic group or geographic regions.</p>

Rapid Detection of Down Syndrome by Gene Diagnosis Using Short Tandem Repeat Polymorphisms / 实用儿科临床杂志

Objective To set a rapid,simple gene diagnosis method for Down syndrome.Methods Three short tandem repeats(D21S11,D21S1270,D21S1437)loci in or near Down syndrome critical region(DSCR) were analyzed and detected by polymerase chain reaction and DNA quantitative analysis in 11 core ancestry.Results There were four types by DNA quantitative analysis to different individuals at a short tandem repeats(STR) locus.In type one,a homozygote of one allelic gene was detected.In type two,a normal heterozygote of two allelic genes was found,the content or two DNA electrophoresis bands was approximately 1∶1.In type three,a Down syndrome patient of two allelic genes was discovered.The quantity of two electrophoresis bands was nearly 2∶1.In type four,the patient showed three DNA electrophoresis bands which the content was approximately 1∶1∶1.Conclusion A rapid gene diagnosis and prenatal diagnosis method for Down syndrome can be used for quantitative analysis of STR polymorphism loci.

Genetic polymorphisms of six short tandem repeat loci in the Han population of Henan province in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the allele frequencies of six short tandem repeats (STR) loci D12S391, D5S818, D18S51, PAHI3, D8S1179, D3S1358 in the Han population of Henan province and to obtain preliminary data.</p><p><b>METHODS</b>DNA was extracted with phenol-chloroform from 140 EDTA-blood specimens of healthy unrelated individuals in Henan population; multiplex PCR technique and PAGE vertical electrophoresis were used to screen the genotype frequencies of six STR systems in Henan population.</p><p><b>RESULTS</b>The test for Hardy-Weinberg equilibrium revealed that the genotype distribution was correspondent with the expected. The observed heterozygosities of six loci were 0.871, 0.769, 0.871, 0.773, 0.901, 0.722. The calculated discrimination power is 0.9999998, the calculated power of exclusion is 0.99845, the calculated matching probability is 2.39 x 10(-7).</p><p><b>CONCLUSION</b>All of the six loci in this study have high power of discrimination and exclusion; they may be very useful genetic markers for individual identification, paternity test and genetics purposes.</p>