CAJ | 학술논문

目的对1个男性假两性畸形完全性雄激素不敏感综合征的家系雄激素受体(androgen receptor,AR)基因进行突变检测,并分析其致病原因.方法用PCR扩增及DNA测序等技术分析男性假两性畸形先证者候选基因AR的外显子及外显子内含子接头序列,根据检测到的突变位点情况,检测患者及其家系其他成员的相应DNA区段的碱基序列.结果先证者及其家庭成员共3例患者均为AR基因1910delA的移码突变.其母亲为AR基因突变杂合子,是此疾病的携带者.该突变导致AR基因的N637I(AAU→AUC)、L638*(CTG→TGA)改变,导致AR蛋白283个氨基酸的截短.正常人群未发现该移码突变,该突变尚未见文献报道.结论基因水平确定了该家系为AR基因突变引起的完全性雄激素不敏感综合征男性假两性畸形家系,同时发现了1种AR基因病理性新突变.
목적 대1개남성가량성기형완전성웅격소불민감종합정적가계웅격소수체(androgen receptor,AR)기인진행돌변검측,병분석기치병원인.방법 용PCR확증급DNA측서등기술분석남성가량성기형선증자후선기인AR적외현자급외현자내함자접두서렬,근거검측도적돌변위점정황,검측환자급기가계기타성원적상응DNA구단적감기서렬.결과 선증자급기가정성원공3례환자균위AR기인1910delA적이마돌변.기모친위AR기인돌변잡합자,시차질병적휴대자.해돌변도치AR기인적N637I(AAU→AUC)、L638*(CTG→TGA)개변,도치AR단백283개안기산적절단.정상인군미발현해이마돌변,해돌변상미견문헌보도.결론 기인수평학정료해가계위AR기인돌변인기적완전성웅격소불민감종합정남성가량성기형가계,동시발현료1충AR기인병이성신돌변.
Objective To identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family. Methods DNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.Results A single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls. Conclusion The 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.