无精子症且存在完全成熟停滞的男性中MOV10L1基因多态性与男性不育的关联
Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest.
作者信息
Sarkardeh Homa, Totonchi Mehdi, Asadpour Ommolbanin, Sadighi Gilani Mohammad Ali, Zamani Esteki Masoud, Almadani Navid, Borjian Boroujeni Parnaz, Gourabi Hamid
机构信息
Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, P.O. Box 19395-4644, Tehran, Iran.
出版信息
J Assist Reprod Genet. 2014 Jul;31(7):865-71. doi: 10.1007/s10815-014-0240-1. Epub 2014 May 10.
PURPOSE
The present research was undertaken to study probable genetic variations of MOV10L1 in 30 infertile men that had complete maturation arrest in their spermatocyte levels and 70 fertile men as the control group.
METHODS
We performed polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) on extracted DNAs and sequencing was used to confirm the results. Identified polymorphisms in the MOV10L1 were further subjected to a haplotype analysis.
RESULTS
We identified eight single nucleotide polymorphisms (SNPs): one missense (rs2272837) and four nonsense polymorphisms (rs2272836, rs11704548, rs2272838, rs138271) in the exonic sequences and three polymorphisms (rs12170772, rs2272840, rs17248147) in the intronic regions. With the exception of rs2272838, there was a statistically significant association in all polymorphisms between study population (P < 0.05). The result of haplotyping analysis showed ten possible haplotypes, from which five were significantly increased in infertile patients compared with the control group.
CONCLUSIONS
Our results suggest that MOV10L1 gene polymorphisms in the studied infertile males with complete maturation arrest are linked to infertility.
目的
本研究旨在探讨30名精子细胞水平完全成熟停滞的不育男性及70名作为对照组的生育男性中MOV10L1可能存在的基因变异。
方法
我们对提取的DNA进行聚合酶链反应单链构象多态性分析（PCR-SSCP），并采用测序来确认结果。对在MOV10L1中鉴定出的多态性进一步进行单倍型分析。
结果
我们鉴定出8个单核苷酸多态性（SNP）：外显子序列中有1个错义突变（rs2272837）和4个无义多态性（rs2272836、rs11704548、rs2272838、rs138271），内含子区域有3个多态性（rs12170772、rs2272840、rs17248147）。除rs2272838外，所有多态性在研究人群之间均存在统计学显著关联（P < 0.05）。单倍型分析结果显示有10种可能的单倍型，其中5种在不育患者中相较于对照组显著增加。
结论
我们的结果表明，在所研究的精子细胞水平完全成熟停滞的不育男性中，MOV10L1基因多态性与不育有关。
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