中华泌尿外科杂志
中華泌尿外科雜誌
중화비뇨외과잡지
CHINESE JOURNAL OF UROLOGY
2011年
1期
62-66
,共5页
李传连%郑九嘉%杨宗%黄学锋%方可欣%楼哲丰%吴永根%金龙金
李傳連%鄭九嘉%楊宗%黃學鋒%方可訢%樓哲豐%吳永根%金龍金
리전련%정구가%양종%황학봉%방가흔%루철봉%오영근%금룡금
弱精子症%mtND4%基因突变%多态性,单核苷酸
弱精子癥%mtND4%基因突變%多態性,單覈苷痠
약정자증%mtND4%기인돌변%다태성,단핵감산
Asthenospermia%mtND4%Mutation%Polymorphism,single nucleotide
目的 分析弱精子症精子mtND4基因突变与弱精子症的相关性,探索弱精子症的分子病因.方法 按WHO标准收集56例弱精子症精液标本和44例精子活力正常精液标本,用3对引物PCR扩增mtND4基因,纯化测序,分析mtND4基因突变,比较2组标本mtND4基因突变及多重单核苷酸多态性(SNP)的差异. 结果发现31个同义突变位点和12个错义突变位点,其中6个核苷酸变异位点未报道过,分别为A11026G、C11215T、A11488G、C11713T、C12908T、T10908C.对照组mtND4基因T10873C和T11944C变异率分别为61.4%(27/44)和11.4%(5/44),显著高于弱精子症组的39.3%(22/56)和0%(P＜0.05);除T10873C和T11944C变异外,错义突变分析发现,对照组10例中与T10873C或T11944C组成多重SNP 8例,而弱精子症组10例标本中仅2例,2组间比较差异有统计学意义(P＜0.05);上述20例错义突变标本分成多重SNP组(与T10873C或T11944C)和非多重SNP组,多重SNP组a级精子百分率和a+b级精子百分率均显著高于非多重SNP组(P＜0.05). 结论 mtND4基因错义突变可能影响精子活动力,T10873C和T11944C多态性变异对精子活动力可能是一个有益因子,两者同时存在组成多重SNP时,两者的作用可能具有相互抵消的效应.
目的 分析弱精子癥精子mtND4基因突變與弱精子癥的相關性,探索弱精子癥的分子病因.方法 按WHO標準收集56例弱精子癥精液標本和44例精子活力正常精液標本,用3對引物PCR擴增mtND4基因,純化測序,分析mtND4基因突變,比較2組標本mtND4基因突變及多重單覈苷痠多態性(SNP)的差異. 結果髮現31箇同義突變位點和12箇錯義突變位點,其中6箇覈苷痠變異位點未報道過,分彆為A11026G、C11215T、A11488G、C11713T、C12908T、T10908C.對照組mtND4基因T10873C和T11944C變異率分彆為61.4%(27/44)和11.4%(5/44),顯著高于弱精子癥組的39.3%(22/56)和0%(P＜0.05);除T10873C和T11944C變異外,錯義突變分析髮現,對照組10例中與T10873C或T11944C組成多重SNP 8例,而弱精子癥組10例標本中僅2例,2組間比較差異有統計學意義(P＜0.05);上述20例錯義突變標本分成多重SNP組(與T10873C或T11944C)和非多重SNP組,多重SNP組a級精子百分率和a+b級精子百分率均顯著高于非多重SNP組(P＜0.05). 結論 mtND4基因錯義突變可能影響精子活動力,T10873C和T11944C多態性變異對精子活動力可能是一箇有益因子,兩者同時存在組成多重SNP時,兩者的作用可能具有相互牴消的效應.
목적 분석약정자증정자mtND4기인돌변여약정자증적상관성,탐색약정자증적분자병인.방법 안WHO표준수집56례약정자증정액표본화44례정자활력정상정액표본,용3대인물PCR확증mtND4기인,순화측서,분석mtND4기인돌변,비교2조표본mtND4기인돌변급다중단핵감산다태성(SNP)적차이. 결과발현31개동의돌변위점화12개착의돌변위점,기중6개핵감산변이위점미보도과,분별위A11026G、C11215T、A11488G、C11713T、C12908T、T10908C.대조조mtND4기인T10873C화T11944C변이솔분별위61.4%(27/44)화11.4%(5/44),현저고우약정자증조적39.3%(22/56)화0%(P＜0.05);제T10873C화T11944C변이외,착의돌변분석발현,대조조10례중여T10873C혹T11944C조성다중SNP 8례,이약정자증조10례표본중부2례,2조간비교차이유통계학의의(P＜0.05);상술20례착의돌변표본분성다중SNP조(여T10873C혹T11944C)화비다중SNP조,다중SNP조a급정자백분솔화a+b급정자백분솔균현저고우비다중SNP조(P＜0.05). 결론 mtND4기인착의돌변가능영향정자활동력,T10873C화T11944C다태성변이대정자활동력가능시일개유익인자,량자동시존재조성다중SNP시,량자적작용가능구유상호저소적효응.
Objective To investigate the relationship between mtND4 point mutation in sperms and asthenospermia. Methods Fifty-six asthenospermia cases and 44 control cases were collected using the WHO criterion for defining asthenospermia, the regions of mtND4 gene were amplified by using PCR of 3 pairs primers. Consequently, the point mutation, missense mutation and multiple single nucleotide polymorphisms (SNP) were analyzed by employing sequencing technology and bioinformatics tools. Results Six mutations never before identified were found. The frequency of single point mutation T10873C and T11944C in the control group were significantly higher than those in the asthenospermia group (P＜0.05). Eight cases involved T10873C or T11944C among the 10 cases in control groups with missense mutations were found. But, there were only 2 cases with such mutation in the 10 asthenospermia cases with missense mutations (P＜0.05). The previous 20 cases of missense mutations can be described as either multiple SNP group (with T10873C or T11944C) or nonmultiple SNP group. The percentage of a range and a plus b range of multiple SNP group of sperm was significantly higher than the non-multiple SNP group(P＜0.05). Conclusions mtND4 gene mutation, especially the missense mutation may induce loss of sperm motility. The mutations of T10873C and T11944C may be useful for sperm motility or counteract the influence for the sperm motility caused by these harmful mutations.
