CAJ | 학술논문

目的对1例完全型雄激素不敏感综合征(complete androgen insensitivity syndrom,CAIS)的雄激素受体(androgen receptor,AR)基因进行分析,寻找致病突变.方法提取外周血全基因组DNA,扩增位于X染色体上的AR基因所有8个外显子及邻近外显子与内含子之间的剪切位点DNA序列,对扩增片段直接进行DNA序列测定,与基因库中的序列进行比对.结果该病例AR基因第1外显子的441位密码子发生无义突变(GAA→TAA),由编码谷氨酸(Glu)变为终止密码,导致雄激素受体蛋白翻译至441位时终止,产生没有功能的氨基酸多肽残段.结论 Glu441stop(GAA→TAA)是一种导致CAIS的AR基因新的突变方式,之前在世界范围内均未见报道,丰富了AR基因突变谱,增加对CAIS发病机制的了解.
목적 대1례완전형웅격소불민감종합정(complete androgen insensitivity syndrom,CAIS)적웅격소수체(androgen receptor,AR)기인진행분석,심조치병돌변.방법 제취외주혈전기인조DNA,확증위우X염색체상적AR기인소유8개외현자급린근외현자여내함자지간적전절위점DNA서렬,대확증편단직접진행DNA서렬측정,여기인고중적서렬진행비대.결과 해병례AR기인제1외현자적441위밀마자발생무의돌변(GAA→TAA),유편마곡안산(Glu)변위종지밀마,도치웅격소수체단백번역지441위시종지,산생몰유공능적안기산다태잔단.결론 Glu441stop(GAA→TAA)시일충도치CAIS적AR기인신적돌변방식,지전재세계범위내균미견보도,봉부료AR기인돌변보,증가대CAIS발병궤제적료해.
Objective To identify the mutation of human androgen receptor gene(AR) in a patient with complete androgen insensitivity syndrome (CAIS). Methods DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced. Results DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA). Conclusion A novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. It may help us further understanding the pathogenesis of CAIS.