中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
3期
294-298
,共5页
肖晓素%江利青%王田园%王勇强%卢丽华%贺蓉
肖曉素%江利青%王田園%王勇彊%盧麗華%賀蓉
초효소%강리청%왕전완%왕용강%로려화%하용
Y染色体无精子症因子c区%DAZ基因拷贝缺失%男性不育
Y染色體無精子癥因子c區%DAZ基因拷貝缺失%男性不育
Y염색체무정자증인자c구%DAZ기인고패결실%남성불육
azzospermia factor C region%DAZ gene copy deletion%male infertility
目的 探讨Y染色体无精子症因子C区(azoospermia factor C,AZFc)部分缺失与男性不育的关系.方法 采用多重PCR技术对实验组453例原发不育患者(无精子症158例,严重少精子症160例,少精子症135例)和对照组236名已正常生育男性进行AZFc区部分缺失检测,并应用限制性片段长度多态性技术,对部分缺失携带者进行DAZ基因拷贝缺失分析.结果 在所发现的两种常见缺失中,少精症组和严重少精症组与正常对照组b2/b3缺失率差异均有统计学意义,而在各组中gr/gr缺失显示相似的频率.结论 Y染色体AZFc区b2/b3缺失可能是该人群生精障碍发生的风险因素,并与男性原发不育相关.
目的 探討Y染色體無精子癥因子C區(azoospermia factor C,AZFc)部分缺失與男性不育的關繫.方法 採用多重PCR技術對實驗組453例原髮不育患者(無精子癥158例,嚴重少精子癥160例,少精子癥135例)和對照組236名已正常生育男性進行AZFc區部分缺失檢測,併應用限製性片段長度多態性技術,對部分缺失攜帶者進行DAZ基因拷貝缺失分析.結果 在所髮現的兩種常見缺失中,少精癥組和嚴重少精癥組與正常對照組b2/b3缺失率差異均有統計學意義,而在各組中gr/gr缺失顯示相似的頻率.結論 Y染色體AZFc區b2/b3缺失可能是該人群生精障礙髮生的風險因素,併與男性原髮不育相關.
목적 탐토Y염색체무정자증인자C구(azoospermia factor C,AZFc)부분결실여남성불육적관계.방법 채용다중PCR기술대실험조453례원발불육환자(무정자증158례,엄중소정자증160례,소정자증135례)화대조조236명이정상생육남성진행AZFc구부분결실검측,병응용한제성편단장도다태성기술,대부분결실휴대자진행DAZ기인고패결실분석.결과 재소발현적량충상견결실중,소정증조화엄중소정증조여정상대조조b2/b3결실솔차이균유통계학의의,이재각조중gr/gr결실현시상사적빈솔.결론 Y염색체AZFc구b2/b3결실가능시해인군생정장애발생적풍험인소,병여남성원발불육상관.
Objective To investigate the relationship between the partial deletions in the azzospermia factor (AZFc) region of Y chromosome and male infertility. Methods Multiplex PCR technology was performed to screen the partial deletions in the AZFc region in 158 azoospermia, 160 severe oligozoospermia and 135 oligozoospermia patients and 236 men with normal spermatogenesis. For samples with gr/gr, b2/b3 recombinogenic deletions, author applied RFLP method to identify which DAZ gene doublet deletion was involved. Results The gr/gr and b2/b3 were two types of common deletions detected. There were significant differences in the b2/b3 deletion in patients with oligozoospermia and severe oligozoospermia compared to the controls (both P<0. 05). However, there was no difference for the gr/gr deletion between the patients and controls. Conclusion The results suggested that the b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility.