中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
2期
190-194
,共5页
葛运生%周裕林%吴慧南%江雨%周东兴%吴琼%郑艳玲%蔡美娇%沈艳艳%李健%黄新力
葛運生%週裕林%吳慧南%江雨%週東興%吳瓊%鄭豔玲%蔡美嬌%瀋豔豔%李健%黃新力
갈운생%주유림%오혜남%강우%주동흥%오경%정염령%채미교%침염염%리건%황신력
男性不育症%无精症因子%荧光原位杂交%Y染色体微缺失
男性不育癥%無精癥因子%熒光原位雜交%Y染色體微缺失
남성불육증%무정증인자%형광원위잡교%Y염색체미결실
azoospermia%azoospermic factor%fluorescence in situ hybridization%Y chromosome microdeletions
目的 通过对无精症患者异常染色体及Y染色体(Yq11.2区段)无精症因子(azoospermic factor,AZF)微缺失的分析,探讨无精症与染色体异常的关系.方法 对25例原因不明的无精症患者进行G带染色体核型分析、荧光Q-显带、荧光原位杂交(fluorescence in situ hybridization,FISH)和AZF微缺失PCR检测.结果 25例原因不明的无精症患者中染色体核型异常7例,异常发生率为28%;对8例无精症患者进行AZF微缺失检测:AZF区微缺失2例,分别为AZFb(SYl27,SYl34)+AZFe(SY254,SY255)缺失、AZFe(SY243,sYl58)缺失.结论 染色体异常及Y染色体AZF微缺失是引起无精症并造成男性不育的重要原因之一,对无精症等不育男性患者在排除睾丸病变、阻塞性无精症、内分泌及免疫系统等临床病理学因素后,包括配偶有不明原因习惯性流产的男性均需做外周血染色体常规GTG-显带、荧光Q-显带检查.Q-带阴性的患者说明其Y染色体长臂缺失的断裂点高于Yq12,在Yq11.2区段,则需要结合FISH和AZF微缺失的PCR检测,以确诊Y染色体的微缺失区段,为患者的临床进一步治疗提供可靠的依据.
目的 通過對無精癥患者異常染色體及Y染色體(Yq11.2區段)無精癥因子(azoospermic factor,AZF)微缺失的分析,探討無精癥與染色體異常的關繫.方法 對25例原因不明的無精癥患者進行G帶染色體覈型分析、熒光Q-顯帶、熒光原位雜交(fluorescence in situ hybridization,FISH)和AZF微缺失PCR檢測.結果 25例原因不明的無精癥患者中染色體覈型異常7例,異常髮生率為28%;對8例無精癥患者進行AZF微缺失檢測:AZF區微缺失2例,分彆為AZFb(SYl27,SYl34)+AZFe(SY254,SY255)缺失、AZFe(SY243,sYl58)缺失.結論 染色體異常及Y染色體AZF微缺失是引起無精癥併造成男性不育的重要原因之一,對無精癥等不育男性患者在排除睪汍病變、阻塞性無精癥、內分泌及免疫繫統等臨床病理學因素後,包括配偶有不明原因習慣性流產的男性均需做外週血染色體常規GTG-顯帶、熒光Q-顯帶檢查.Q-帶陰性的患者說明其Y染色體長臂缺失的斷裂點高于Yq12,在Yq11.2區段,則需要結閤FISH和AZF微缺失的PCR檢測,以確診Y染色體的微缺失區段,為患者的臨床進一步治療提供可靠的依據.
목적 통과대무정증환자이상염색체급Y염색체(Yq11.2구단)무정증인자(azoospermic factor,AZF)미결실적분석,탐토무정증여염색체이상적관계.방법 대25례원인불명적무정증환자진행G대염색체핵형분석、형광Q-현대、형광원위잡교(fluorescence in situ hybridization,FISH)화AZF미결실PCR검측.결과 25례원인불명적무정증환자중염색체핵형이상7례,이상발생솔위28%;대8례무정증환자진행AZF미결실검측:AZF구미결실2례,분별위AZFb(SYl27,SYl34)+AZFe(SY254,SY255)결실、AZFe(SY243,sYl58)결실.결론 염색체이상급Y염색체AZF미결실시인기무정증병조성남성불육적중요원인지일,대무정증등불육남성환자재배제고환병변、조새성무정증、내분비급면역계통등림상병이학인소후,포괄배우유불명원인습관성유산적남성균수주외주혈염색체상규GTG-현대、형광Q-현대검사.Q-대음성적환자설명기Y염색체장비결실적단렬점고우Yq12,재Yq11.2구단,칙수요결합FISH화AZF미결실적PCR검측,이학진Y염색체적미결실구단,위환자적림상진일보치료제공가고적의거.
Objective To investigate the clinical correlation of chromosome abnormalities and microdeletion in azoospermic factor(AZF)region on Y chromosome in 25 patients with azoospennia.Methods Chromosome analyses were performed by using chromosome GTG-banding,Q-banding,fluorescence in situ hybridization(FISHSH)and poly-merase chain reaction(PCR)for AZF region on chromosome Yq.Results Seven cases showed abnormal chromosome karyotype(28%).In 8 azoospermic patients tested,2 showed microdeletions of AZFb(SY127,SY134)+AZFc (SY254,SY255)and AZFc(SY243,SY158)on chromosome Yq,respectively.Conclusion Chromosome abnormalities and AZF microdeletion are major cause of azoospermia leading to male infertility;male with azoospermia and infertility shodd be referred to cytogenetic diagnosis by using chromosome GTG-banding,Q-banding after ruling out clinical factors including testopathy,obstructive azoospermia,and abnormalities in incretion and immune system.FISH or PCR analysis for AZF region on chromosome Yq should be done for the patient with azoospennia if Q-banding indicates the deletion above Yq12 region.It is of essential importance to provide precise diagnosis in genetic counseling for further clinical treatment.
