Association of single nucleotide polymorphisms of PATZ1 gene with azoospermia

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 27; no. 4; p. 393
• Main Authors: Huang, Jian-xi, A, Zhou-cun
• Format: Journal Article
• Language: Chinese
• Published: China 01.08.2010
• Subjects: Alleles; Azoospermia - genetics; Gene Frequency - genetics; Genetic Predisposition to Disease - genetics; Genotype; Haplotypes; Humans; Kruppel-Like Transcription Factors - genetics; Male; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length - genetics; Polymorphism, Single Nucleotide - genetics; Repressor Proteins - genetics
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.issn.1003-9406.2010.04.007

To study the relationship between the polymorphisms of single nucleotide polymorphisms(SNPs) in rs2240424, rs2057951, rs2240427 and rs714909 loci in the PATZ1 gene and azoospermia. The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. The frequencies of allele C (35.0% vs. 27.6%, P=0.031) and individuals with allele C (TC+CC) (57.8% vs. 46.3%, P=0.027) at the rs2057951 locus in azoospermic patients were significantly higher than that in normal men. There was a significant difference in distribution of haplotypes of the four SNPs between the two groups (P=0.01). Hapoltypes ACAC (11.1% vs. 6.6%, P=0.029) and ACGC