[Study on the distribution of Y chromosome haplogroups in Sichuan Han population].

Objective: To investigate the distribution characteristics of Y chromosome haplogroups in Sichuan Han population.

Methods: 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.

Results: 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.

DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men.

Aim: 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.

Methods: 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.

Results: Five (1.

[Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome].

Objective: 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.

Methods: 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.

[A method of haplotype analysis for multiple single-nucleotide polymorphisms].

Haplotypes from multiple single nucleotide polymorphisms(SNPs) spaced in longer DNA were constructed by multi-step PCR and DNA sequencing methods. Two allele-specific primers were synthesized and used for long DNA fragments (approximately 10 kb) amplification from human genome DNA. Fragments within these long DNA fragments were amplified by using these PCR products as templates in the second round PCR.

[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia].

Objective: 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.

Methods: 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.

Results: The observed allele frequencies conformed well to Hardy-Weinberg equilibrium.

[Association of 7alpha-hydroxylase gene polymorphism with levels of plasma lipids].

To study the distribution of Eco31I restriction polymorphism in nucleotide -204 of 7alpha-hydroxylase gene(CYP7A1)in Sichuan Han population of China and association of the polymorphism with coronary heart disease(CHD),CYP7A1 genotyping was performed by using PCR-RFLP approach in 183 CHD patients and 101 control subjects. 7alpha-hydroxylase gene allele frequencies of C,A were 0.840 and 0.

[Association of APOA5 gene single nucleotide polymorphism with levels of lipids and coronary heart disease in Chinese].

Objective: 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.

Methods: APOA5 SNP4 genotyping was performed using polymerase chain reaction and Hae III restriction fragment length polymorphism analysis.

Results: APOA5 allelic frequencies of T, C were 0.

[Mouse whole mount RNA in situ hybridization: an effective technique for analyzing gene expression].

Objective: To set up a method of analyzing gene expression profile from mouse whole embryos.

Methods: 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.

A novel polymorphism A(+884)-->G in the hepatic lipase gene and its association with coronary artery disease.

Hepatic lipase (HL) activity may influence susceptibility to coronary artery disease (CAD). Association between the single nucleotide polymorphisms (SNPs) in the HL gene with the occurrence of CAD has been investigated thoroughly, but to date most studies focused on the base variation in the promoter of HL gene, little is known about the variation in the coding region. In present study, the SNP in all exons of the HL gene were analyzed.

Relationship between a novel polymorphism of hepatic lipase gene and coronary artery disease.

Hepatic lipase (HL) is a lipolytic enzyme involved in the catabolism of plasma lipoproteins, and is an important determinant of high density lipoproteins(HDL) concentration and low density lipoproteins(LDL) subclass distribution. Accordingly, HL activity may influence body's susceptibility to coronary artery disease (CAD). Association on the single nucleotide polymorphisms (SNPs) in the HL gene to post-heparin plasma HL activity and the plasma HDL-cholesterol concentration have been investigated thoroughly, but to date, little is known about th is in Chinese.