中国医学创新
中國醫學創新
중국의학창신
MEDICAL INNOVATION OF CHINA
2014年
6期
81-83
,共3页
石思雄%卢凯%陈光彪%李斌%叶绍强
石思雄%盧凱%陳光彪%李斌%葉紹彊
석사웅%로개%진광표%리빈%협소강
AIS%大家系%AR突变效应
AIS%大傢繫%AR突變效應
AIS%대가계%AR돌변효응
AIS%Pedigrees%AR mutation effects
目的:分析雄性激素不敏感综合征(AIS)大家系的AR突变效应。方法:从AIS患者外周血中将基因组DNA提取出来,以特异的引物聚合酶联反应(PCR)扩张雄激素受体(AR)基因,单链构象多态性分析(SSCP)扩增产物,将突变的外显子筛选出来,然后对其直接进行PCR产物测序。结果:所选取的8例人员中,有2例AIS患者缺失AR基因2号外显子,其余6例存在外显子电泳条带,经过基因测序,发现其符合正常AR基因。结论:本研究方法简便实用,在临床诊断和研究AIS中具有极为有益的应用。
目的:分析雄性激素不敏感綜閤徵(AIS)大傢繫的AR突變效應。方法:從AIS患者外週血中將基因組DNA提取齣來,以特異的引物聚閤酶聯反應(PCR)擴張雄激素受體(AR)基因,單鏈構象多態性分析(SSCP)擴增產物,將突變的外顯子篩選齣來,然後對其直接進行PCR產物測序。結果:所選取的8例人員中,有2例AIS患者缺失AR基因2號外顯子,其餘6例存在外顯子電泳條帶,經過基因測序,髮現其符閤正常AR基因。結論:本研究方法簡便實用,在臨床診斷和研究AIS中具有極為有益的應用。
목적:분석웅성격소불민감종합정(AIS)대가계적AR돌변효응。방법:종AIS환자외주혈중장기인조DNA제취출래,이특이적인물취합매련반응(PCR)확장웅격소수체(AR)기인,단련구상다태성분석(SSCP)확증산물,장돌변적외현자사선출래,연후대기직접진행PCR산물측서。결과:소선취적8례인원중,유2례AIS환자결실AR기인2호외현자,기여6례존재외현자전영조대,경과기인측서,발현기부합정상AR기인。결론:본연구방법간편실용,재림상진단화연구AIS중구유겁위유익적응용。
Objective:To analyze AR mutation effect of androgen insensitivity syndrome(AIS)pedigree. Method:Genomic DNA was extracted from AIS patients,androgen receptor(AR)gene was extended by polymerase chain reaction(PCR)with specific primer,product was amplification by single strand conformation polymorphism(SSCP),and the mutation exon was screened out,then it was sequenced directly by PCR products. Result:Among the selected 8 patients,2 patients with AIS was on the 2nd AR gene deletion in exon,and the remaining 6 cases exon staff electrophoretic bands, through gene sequencing,it met the normal AR gene. Conclusion:The method is simple and practical. It has very useful application in the clinical diagnosis and research of the AIS.