Genetic polymorphism of D6S477, D9S1118, D18S865, D19S400, and D20S161 short tandem repeat loci in Qingdao Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To illuminate the preliminary genotype and allele frequency distribution of D6S477 and the other four short tandem repeat(STR) loci in Chinese Han population in Qingdao area and to probe the possibility of their genetic application.</p><p><b>METHODS</b>Two hundred ACD-blood specimens were collected from the unrelated individuals in Qingdao. The DNA samples were extracted with Chelex method and were amplified by polymerase chain reaction technique. The PCR products were analyzed by polyacrylamide gel electrophoresis and displayed using silver staining.</p><p><b>RESULTS</b>The authors obtained the allele frequency distribution and preliminary genotype of D6S477, D9S1118, D18S865, D19S400 and D20S161 STR loci. No deviation from Hardy-Weinberg equilibrium was observed in the five loci.</p><p><b>CONCLUSION</b>All the five loci have higher chance of exclusion and discriminating power, and they will be useful markers for researches in genetics.</p>

Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion / 中华妇产科杂志

Objective To explore the relationship of methylenetetrahydrofolate reductase (MTHFR)gene C677T,factor V(FV)gene G1691A and prothrombin(PT)gene G20210A polymorphisms to unexplained recurrent early spontaneous abortion(URESA).Methods One hundred and twelve patients with URESA and 100 women with at least 1 normal pregnancy and without any miscarriage were analyzed for MTHFR,FV and PT gene polymorphisms by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Results MTHFR gene T/T genotype and T allele frequencies were increased in URESA patients[38.4%(43/112)and 59.8%(134/224)]versus controls[18.0%(18/100)and 43%(43/100),P