LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest
LMTK2 and PARP-2 gene polymorphism and azoospermia secondary to meiotic arrest
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DOI：
10.1007/s10815-009-9347-1
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发表时间：
2009-10-01
影响因子：
3.1
通讯作者：
Sengoku, Kazuo
中科院分区：
文献类型：
--
作者：
Sakugawa, Naoko;Miyamoto, Toshinobu;Sengoku, Kazuo
为了研究人类LMTK2和PARP-2基因缺陷是否通过减数分裂阻滞与无精子症相关，对日本无精子症患者进行了突变分析。通过直接测序，对基因外显子区域进行突变筛选，使用来自18名日本男性的基因组dna。统计分析患者和正常对照检测到的单核苷酸多态性（snp）。LMTK2中检测到9个snp， PARP-2中检测到5个snp。LMTK2基因型分布和等位基因频率在两组间无显著差异。然而，PARP-2 snp杂合子的基因型频率在患者组中较高。单倍型分析显示，PARP-2的SNP1-SNP4 （T-A）在患者组中明显更频繁。PARP-2基因可能与人类减数分裂停止导致的无精子症有关。
To investigate whether the human LMTK2 and PARP-2 gene defects are associated with azoospermia by meiotic arrest, mutational analysis was performed on Japanese men with azoospermia.Via direct sequencing, mutational screening was carried out on the exon region of the genes, using genomic DNAs from 18 Japanese men. Statistical analysis was done on the detected single nucleotide polymorphisms (SNPs) in the patients and normal controls.Nine SNPs were detected in LMTK2 and five SNPs were detected in PARP-2. There were no significant differences in the genotype distribution and allele frequencies between the two groups in LMTK2. However, the genotype frequency of heterozygotes in SNP1 of PARP-2 was higher in the patient group. The haplotype analysis revealed that SNP1-SNP4 (T-A) of PARP-2 was significantly more frequent in the patient group.The PARP-2 gene might be associated with azoospermia by meiotic arrest in humans.