中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2008年
11期
828-830
,共3页
秦莹莹%高选%游力%李媛%颜军昊%赵跃然%陈子江
秦瑩瑩%高選%遊力%李媛%顏軍昊%趙躍然%陳子江
진형형%고선%유력%리원%안군호%조약연%진자강
雄激素迟钝综合征%系谱%受体,雄激素%突变
雄激素遲鈍綜閤徵%繫譜%受體,雄激素%突變
웅격소지둔종합정%계보%수체,웅격소%돌변
Androgen-insensitivity syndrome%Pedigree%Receptors,androgen%Mutation
目的 探讨完全型雄激素不敏感综合征(CAIS)家系的致病基因突变.方法 采用PCR及直接测序的方法,对1个CAIS家系中的雄激素受体基因外显子1～8分别进行测序研究.结果 雄激素受体基因第6外显子发生G2683A错义突变,导致773位点的精氨酸被组氨酸取代Arg773His.结论 雄激素受体基因Arg773His位点突变是该CAIS家系的发病原因;对CAIS患者进行基因检测,可为遗传咨询、产前或植入前遗传学诊断提供依据.
目的 探討完全型雄激素不敏感綜閤徵(CAIS)傢繫的緻病基因突變.方法 採用PCR及直接測序的方法,對1箇CAIS傢繫中的雄激素受體基因外顯子1～8分彆進行測序研究.結果 雄激素受體基因第6外顯子髮生G2683A錯義突變,導緻773位點的精氨痠被組氨痠取代Arg773His.結論 雄激素受體基因Arg773His位點突變是該CAIS傢繫的髮病原因;對CAIS患者進行基因檢測,可為遺傳咨詢、產前或植入前遺傳學診斷提供依據.
목적 탐토완전형웅격소불민감종합정(CAIS)가계적치병기인돌변.방법 채용PCR급직접측서적방법,대1개CAIS가계중적웅격소수체기인외현자1～8분별진행측서연구.결과 웅격소수체기인제6외현자발생G2683A착의돌변,도치773위점적정안산피조안산취대Arg773His.결론 웅격소수체기인Arg773His위점돌변시해CAIS가계적발병원인;대CAIS환자진행기인검측,가위유전자순、산전혹식입전유전학진단제공의거.
Objective To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing in a large family. Methods PCR was performed to amplify the coding region of androgen gene, followed by direct sequencing in the patients with CAIS and relatives in this family. Results A missense mutation Arg773His was identified in the patients (homozygous) and carriers(heterozygous). Conclusions Mutation Arg773His in the AR gene leads to CAIS in this family. Molecular genetic testing of CAIS facilitates not only prenatal genetic diagnosis but also preimplantation genetic diagnosis and offers genetic counseling for future pregnancies to abandon the transmission of the mutated X chromosome to the coming generation.
