Study on the distribution of Y chromosome haplogroups in Sichuan Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distribution characteristics of Y chromosome haplogroups in Sichuan Han population.</p><p><b>METHODS</b>Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), denatured high performance liquid chromatography (DHPLC) and DNA sequencing methods, 18 Y-chromosome bialletic markers were detected to type Y chromosome haplogroups in 341 unselected men from Sichuan Han population.</p><p><b>RESULTS</b>A total of 14 haplogroups were observed, in which haplogroups H2 and H4 were identified for the first time in Sichuan population, and haplogroups H14 and N* were found firstly in Chinese. There was a significant frequency difference of Y haplogroups between Sichuan Han population and Southern Han population.</p><p><b>CONCLUSION</b>More comprehensive frequency distribution data of Y chromosome haplogroups are obtained in Sichuan Han population, which would be helpful for understanding the association of Y chromosome background and the susceptibility to male specific diseases such as spermatogenic failure, prostate cancer, testical cancer and so on in present population.</p>

DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men / 亚洲男科学杂志(英文版)

<p><b>AIM</b>To explore the possible effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c (AZFc) region was analyzed in 346 normozoospermic men.</p><p><b>METHODS</b>Three DAZ single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined with polymerase chain reaction (PCR)-restriction fragment length polymorphism and routine PCR.</p><p><b>RESULTS</b>Five (1.4%) of the normozoospermic men were found to have deletion of gr/gr-DAZ1/DAZ2. None of the men were found to have b2/b4-entire DAZ deletion.</p><p><b>CONCLUSION</b>The presence of gr/gr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men.</p>

Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate 2 polymorphism sites in exon 3 and intron 2 of FKBP6 in Chinese population, while screening the gene mutations and polymorphisms in exons 3, 4 of FKBP6, and the association of these polymorphisms with azoospermia.</p><p><b>METHODS</b>Possible variations of exons 3, 4 and genotypes and frequencies of 2 polymorphic loci were examined by denaturing high-performance liquid chromatography(DHPLC) and PCR-restriction fragment length polymorphism(PCR-RFLP) technique in 177 azoospermia patients and 231 control individuals.</p><p><b>RESULTS</b>The observed allele frequencies conformed well to Hardy-Weinberg equilibrium. The frequency of 278A allele was significantly higher in controls than that in patients (P<0.05). C/T(s7797242) polymorphism was not found in either group and variations in exons 3, 4 were not detected.</p><p><b>CONCLUSION</b>278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population.</p>

Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the correlation of male infertility with abnormality of chromosomal quantity and construction and with the deletion of DAZ gene copy in the AZFc region of Y chromosome.</p><p><b>METHODS</b>Included in the study were 247 azoospermic and 206 severe oligozoospermic patients, as well as 210 fertile men as controls. Multi-PCR and PCR-RFLP were used to analyze the deletion of DAZ gene copies in the AZFc region of Y chromosome. Chromosomal quantity and construction were detected by G-band in the 453 patients.</p><p><b>RESULTS</b>In the azoospermic and severe oligozoospermic patients, the incidences of chromosomal abnormality were 12.6% and 8.3%; the rates of complete DAZ deletion were 7.7% and 11.2%, and the rates of DAZ1/DAZ2 deletion were 7.3% and 4.9% respectively, but no deletion was detected in the controls.</p><p><b>CONCLUSION</b>There is a high frequency of chromosomal abnormality and DAZ gene copy deletion in patients with azoospermia and oligospermia, which suggests that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility.</p>

Mouse whole mount RNA in situ hybridization: an effective technique for analyzing gene expression / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To set up a method of analyzing gene expression profile from mouse whole embryos.</p><p><b>METHODS</b>Mouse whole mount RNA in situ hybridization(WM-ISH) of E10.5-E14 embryos was carried out by using digoxigenin-labeled Runx1 and Runx3 RNA probes and their expression profile was observed by detecting the existence and status of corresponding mRNAs in the embryonic tissues.</p><p><b>RESULTS</b>Clear hybridization signals were observed in different tissues and organs hybridized by Runx1 or Runx3 RNA probe. Different probes and ages of embryos had need of their own optimal proteinase K treatment conditions.</p><p><b>CONCLUSION</b>Mouse whole mount RNA in situ hybridization is an effective method of analyzing gene expression. It is useful for revealing whole gene expression profile and has a great potentiality in the era of functional genomics. It provides an alternative method of studies on gene expression which is at least as good as LacZ staining and immunohistochemistry. The key factor of the success to mouse whole mount RNA in situ hybridization is whether the proteinase K treatment conditions are optimal or not.</p>

Association of APOA5 gene single nucleotide polymorphism with levels of lipids and coronary heart disease in Chinese / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the single nucleotide polymorphism 4 (SNP4) of the apolipoprotein A5 (APOA5) gene possible association with coronary heart disease(CHD) and its distribution of in Chinese Han population.</p><p><b>METHODS</b>APOA5 SNP4 genotyping was performed using polymerase chain reaction and Hae III restriction fragment length polymorphism analysis.</p><p><b>RESULTS</b>APOA5 allelic frequencies of T, C were 0.435, 0.565 and 0.374, 0.626 in CHD group and control group, respectively. There is significant difference in allele and genotype frequencies between CHD group and control group (P<0.05). The levels of plasma high density lipoprotein in CHD patients with CC genotype were higher than those in CHD patients with other genotypes (P<0.01). The frequencies of T allele and C allele in Chinese was significantly different from those in Caucasians (0.374 vs 0.663, 0.626 vs 0.337, P<0.01). The C allele was much more common in Chinese population.</p><p><b>CONCLUSION</b>The association is found between the Hae III polymorphism and CHD, There is a significant correlation between the CC genotype of the APOA5 and the levels of plasma high density lipoprotein-cholosteal in the CHD group.</p>