Study on Association between Single Nucleotide Polymorphisms of PATZ1 Gene as Well as DNMT3L Gene and Azoospermia
|Keywords||PATZ1 gene DNMT3L gene Single nucleotide polymorphisms Male infertility Azoospermia|
Male infertility is a complex human diseases, many caused by genetic factors. Primary male infertility patients, about 59% -90% of male infertility is severe oligozoospermia or azoospermia, spermatogenesis disorder is the main type. That the primary male infertility candidate gene is closely related to genes with spermatogenesis. Human sperm from place to mature is a complex process, normal mature sperm cells must undergo cell proliferation, meiosis, cell differentiation, cell cycle activity. Studies have shown that, so far at least over 4000 genes involved in the process of spermatogenesis. With the continued study of male genetic etiology depth many of spermatogenesis closely related genes in animal models build has been confirmed. But whether these genes are associated with primary human male infertility, also unable to clarify the current study, needs further study investigated. POZ domain and AT zinc finger binding motif protein 1 (POZ and AT hook containing zinc finger 1, PATZ1) gene and class methyltransferase enzyme protein 3 (DNMT3L) gene spermatogenesis process is closely related. In recent years, these studies suggest that the two genes, they are exceptions may cause the primary male infertility. So far, at home and abroad has not been relevant PATZ1 gene, the DNMT3L gene and primary male infertility relations the study reported. In view of this, the study by polymerase chain reaction and restriction fragment length polymorphism and DNA sequencing technology, azoospermia infertility patients and normal fertility the men PATZ1 gene SNP 4 loci (rs2240424, rs714909 rs2057951 and rs2240427) and DNMT3L gene SNP loci (rs2070565, rs2276248 and rs7354779) investigation to a preliminary understanding of the relationship between these two genes with azoospermia. The results are as follows: 1.PATZ 1 gene rs2057951 locus allele C (35.0% vs.27.6%, P = 0.031) and with the C allele individuals (CT CC) (57.8% vs.46.3%, P frequency = 0.027) was significantly higher than the normal male patients with azoospermia. Four of SNP haplotype distribution in the two groups was statistically significant (P = 0.01), haplotype the ACAC (11.1% vs.6.6%, P = 0.029), ACGC (11.2% vs.5.2%, P = 0.003) was significantly higher than the normal male azoospermia patients. The frequency of allele A (20.4% vs.14.9%, p = 0.027) 2.DNMT3L gene rs2070565 locus with allele A the individual (GA AA) (37.3% vs.28.1%, p = 0.033). frequency azoospermic patients was significantly higher than the normal male controls. Relative to normal male controls, patients with azoospermia haplotype frequency of AAA (18.1% vs.12.4, p = 0.02) was significantly higher apparent frequency of haplotype GAA (53.2% vs.62.1%, p = 0.007) reduced. The results of the study show that, PATZ1 gene and DNMT3L genes associated with susceptibility to azoospermia, suggesting that these two genes may be related to the pathogenesis of azoospermia.