中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
1期
85-88
,共4页
付莉%毛熙光%陈绍威%张红斌%王明勇%黄桂英%王芳
付莉%毛熙光%陳紹威%張紅斌%王明勇%黃桂英%王芳
부리%모희광%진소위%장홍빈%왕명용%황계영%왕방
无精症%严重少精症%男性不育%Y染色体微缺失
無精癥%嚴重少精癥%男性不育%Y染色體微缺失
무정증%엄중소정증%남성불육%Y염색체미결실
Azoospermia%Severe oligozoospermia%Male infertility%Y chromosome microdeletion
目的 探讨川南地区无精子症及严重少精子症患者Y染色体无精子因子(azoospermia factor,AZF)区微缺失的位点及其特点.方法 采用多重PCR技术对134例无精症患者、90例严重少精症患者和70名正常男性进行Y染色体AZF区18个序列标签位点(sequence tagged site,STS)的检测.结果 在224例患者中,AZF缺失率为12.1％(27/224),其中无精症患者缺失率为13.4％(18/134),严重少精症患者缺失率为10.0％(9/90).AZFc区缺失为最常见的缺失类型,占51.9％.选用18个STS位点的检出率比欧洲男科学会和欧洲分子遗传实验质控网推荐的6个STS位点提高约22.7％(5/22).正常对照组未发现Y染色体微缺失.结论 Y染色体微缺失检测对诊断男性不育具有重要价值,AZFc区是川南地区男性不育患者Y染色体微缺失的缺失热区.增加STS位点检测数在一定程度上提高缺失检测的可靠性及检出率.
目的 探討川南地區無精子癥及嚴重少精子癥患者Y染色體無精子因子(azoospermia factor,AZF)區微缺失的位點及其特點.方法 採用多重PCR技術對134例無精癥患者、90例嚴重少精癥患者和70名正常男性進行Y染色體AZF區18箇序列標籤位點(sequence tagged site,STS)的檢測.結果 在224例患者中,AZF缺失率為12.1％(27/224),其中無精癥患者缺失率為13.4％(18/134),嚴重少精癥患者缺失率為10.0％(9/90).AZFc區缺失為最常見的缺失類型,佔51.9％.選用18箇STS位點的檢齣率比歐洲男科學會和歐洲分子遺傳實驗質控網推薦的6箇STS位點提高約22.7％(5/22).正常對照組未髮現Y染色體微缺失.結論 Y染色體微缺失檢測對診斷男性不育具有重要價值,AZFc區是川南地區男性不育患者Y染色體微缺失的缺失熱區.增加STS位點檢測數在一定程度上提高缺失檢測的可靠性及檢齣率.
목적 탐토천남지구무정자증급엄중소정자증환자Y염색체무정자인자(azoospermia factor,AZF)구미결실적위점급기특점.방법 채용다중PCR기술대134례무정증환자、90례엄중소정증환자화70명정상남성진행Y염색체AZF구18개서렬표첨위점(sequence tagged site,STS)적검측.결과 재224례환자중,AZF결실솔위12.1％(27/224),기중무정증환자결실솔위13.4％(18/134),엄중소정증환자결실솔위10.0％(9/90).AZFc구결실위최상견적결실류형,점51.9％.선용18개STS위점적검출솔비구주남과학회화구주분자유전실험질공망추천적6개STS위점제고약22.7％(5/22).정상대조조미발현Y염색체미결실.결론 Y염색체미결실검측대진단남성불육구유중요개치,AZFc구시천남지구남성불육환자Y염색체미결실적결실열구.증가STS위점검측수재일정정도상제고결실검측적가고성급검출솔.
Objective To investigate the location and characteristics of microdeletions of Y chromosome azoospermia factor (AZF) genes in infertile males with azoospermia and severe oligozoospermia in southern Sichuan.Methods Multiplex PCR was used to detect 18 sequence tagged sites (STS) involved in Y chromosome AZF microdeletions among 224 infertile males (including 134 azoospermia cases and 90 severe oligozoospermia cases) and 70 healthy males.Results Among the 224 infertile males,the overall frequency of microdeletions was 12.1％ (27/224),and were 13.4％ (18/134) in those with azoospermia and 10.0％ (9/90) in those with severe oligozoospermia.The most frequent microdeletions have occurred in the AZFc region (51.9％).Compared with the 6 STS loci recommended by European Academy of Andrology and European Molecular Genetics Quality Network,22.7％ more deletions were detected based on the 18 STS loci selected from the AZF region.Conclusion Identification of Y chromosome microdeletions has a significant implication on the diagnosis of male infertility.The most frequent microdeletions have occurred in the AZFc region in southern Sichuan.To use more sequence tagged sites for the screening can improve the reliability and detection rate of Y chromosome microdeletions.
