CAJ | 학술논문

目的检测我国无精和严重少精子症患者Y染色体微缺失的发生情况和位点,及其与睾丸病理学类型的关系.方法取584例无精子症和80例严重少精子症患者精液中细胞或外周血白细胞,裂解提取DNA,用4组多重聚合酶链反应检测分布于AZFa、AZFb、AZFc区,包括欧洲男科学会和欧洲分子遗传学质量控制体系推荐的6个位点在内的共15个序列标签位点(sequence tagged site,SIS)的缺失.对部分有Y染色体微缺失患者进行睾丸细针抽吸活检,检查睾丸病理学类型.结果 584例无精子症患者中,共有66例(11.3%)发生Y染色体微缺失,各区发生率构成比由高到低依次为:AZFc区48例(72.7%),AZFb+c区9例(13.6%),AZFa+b+c区4例(6.1%),AZFb区3例(4.5%),A2Fa区2例(3.0%).80例严重少精子症患者共有10例发生Y染色体微缺失(12.5%),均为AZFc区缺失.AZFc区缺失患者(19例)睾丸病理学类型多样化;AZFb+c区或AZFa+b+c区缺失患者(7例)睾丸病理学类型为唯支持细胞综合征或生精阻滞于精原细胞.结论 Y染色体微缺失在我国的发生情况与其他国家大多数报道基本一致,跨区大缺失对精子发生造成严重影响.
목적 검측아국무정화엄중소정자증환자Y염색체미결실적발생정황화위점,급기여고환병이학류형적관계.방법 취584례무정자증화80례엄중소정자증환자정액중세포혹외주혈백세포,렬해제취DNA,용4조다중취합매련반응검측분포우AZFa、AZFb、AZFc구,포괄구주남과학회화구주분자유전학질량공제체계추천적6개위점재내적공15개서렬표첨위점(sequence tagged site,SIS)적결실.대부분유Y염색체미결실환자진행고환세침추흡활검,검사고환병이학류형.결과 584례무정자증환자중,공유66례(11.3%)발생Y염색체미결실,각구발생솔구성비유고도저의차위:AZFc구48례(72.7%),AZFb+c구9례(13.6%),AZFa+b+c구4례(6.1%),AZFb구3례(4.5%),A2Fa구2례(3.0%).80례엄중소정자증환자공유10례발생Y염색체미결실(12.5%),균위AZFc구결실.AZFc구결실환자(19례)고환병이학류형다양화;AZFb+c구혹AZFa+b+c구결실환자(7례)고환병이학류형위유지지세포종합정혹생정조체우정원세포.결론 Y염색체미결실재아국적발생정황여기타국가대다수보도기본일치,과구대결실대정자발생조성엄중영향.
Objective To explore the incidence and location of Y chromosome microdelefions in Chinese azoospermia and severe oligozoospermia,as well as the relationship between the deletion region and testicular phenotype.Methods Semen samples or blood samples were collected from 664 Chinese patients(584 with azoospermia and 80 with severe oligozoospermia).DNA was extracted by incubating cells with a lysis buffer containing polymerase chain reaction(PCR)buffer and pmteinase K,and was assayed for deletion of 15 sequence tagged sites(including 6 loci recommended by European Academy of Andrology and European Molecldar Genetics Quality Network(EAA/EMQN)distributed in AZ Fa,AZFb and AZFc by 4 multiplex PCRs.The histological phenotypes of testes of Some azoospennic patients harboring Y chromosome microdeletion were studied by fine needle aspiration.Results Sixty-six(11.3%)cases of microdeletions were found in the 584 patients with azoospermia,and deletions of AZFc region are the leading group(72.7% of all deletions),followed by AZFbc (13.6%),AZFabc(6.1%),AZFb(4.5%) and AZFa(3.0%).In the 80 men with severe oligozoospemfia,10(12.5%)cases of AZPC microdeletions were detected.while azoospennia(n=19)with AZFC region deletion showed variable testicuar phenotype,deletions of AZFb+C and AZFa+b+C(n=7) resulted in severe impaired spermatogenesis characterized by Sertoli cell only syndrome and spermatogenic arrest at spermatogonia.Conclusion In the Chinese men with azoospermia and severe oligozoospermia,the incidence of Y chromosome microdeletions and the frequency of the deletions of the three AZF regions are similar to those described previously in other populations.Massive deletions of AZFb+c and AZFa+b+C impair spermatogenesis severely.