Relationship between follicle stimulating hormone and AZF microdeletion on Y chromosome in patients with azoospermia or severe oligozoospermia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between follicle stimulating hormone (FSH) and AZF microdeletion on Y chromosome.</p><p><b>METHODS</b>Fifteen loci of 4 regions of the AZF gene were investigated by multiplex PCR in 100 patients with azoospermia or severe oligozoospermia. The reproductive hormone FSH was detected by access 2 immunoassay system from BECKMAN COULTER. Epidata was set up and analyzed for means. F test of anova was performed.</p><p><b>RESULTS</b>The rate of microdeletion was 13% (13 out of 100 patients). The deletion was on AZFa in 1 patient, AZFb+c+d in 4 patients, AZFc+d in 7 patients, AZFd in 1 patient, respectively. The level of FSH (40.8±11.3 U/L) in the AZFb+c+d deletion group was significantly higher than that in the group without Y chromosome deletion (16.7±14.3 U/L) and the other types of deletion (11.8±6.7 U/L) (P<0.01).</p><p><b>CONCLUSION</b>The common microdeletion regions were AZFc and AZFd on Y chromosome in azoospermia or severe oligozoospermia. The microdeletion of AZFb+c+d was one of the important causes of the high level of FSH.</p>

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>

Genetic polymorphism of short tandem repeat loci D1S549, D3S1754 and D12S375 in Qingdao Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To know the genotype and allele frequency distribution of D1S549, D3S1754 and D12S375 in Chinese Han population in the Qingdao area and to study the three short tandem repeat(STR) loci for genetic application.</p><p><b>METHODS</b>ACD-blood specimens were collected from the unrelated individuals in Qingdao. The DNA samples were extracted with the use of Chelex method and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by polyacrylamide gel electrophoresis and were visualized by silver staining.</p><p><b>RESULTS</b>Eight alleles were found at D1S549 locus, eight alleles at D3S1754 locus and five alleles at D12S375 locus, and 22, 19 and 14 genotypes were identified respectively. No deviation from Hardy-Weinberg equilibrium was observed in the three loci. The heterozygosities expected of them were 0.7988, 0.7087 and 0.75 respectively. The exclusion probability was calculated as 0.6592 for D1S549, and 0.5605 for D3S1754, and 0.5864 for D12S375. The discriminating power of the three loci were 0.9143, 0.8382 and 0.8861. Comparison of the allelic frequencies in Qingdao area with those in Hans of Chengdu area by chi-square test showed a difference statistically significant at D1S549 locus but no difference at D3S1754 and D12S375 loci.</p><p><b>CONCLUSION</b>This study reveals the structure of the three loci and the obtained data are beneficial to understanding the population genetics in Chinese Han population. All of the three loci have higher chance of exclusion and higher discriminating power, and they will be useful markers for individual identification, paternity test and genetics purposes.</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