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目的探讨1个先天性肾上腺发育不良家系的临床特征,检测患者及其家属中是否存在剂量敏感的性别反转-先天性肾上腺发育不良基因1(DAX-1)突变。方法对1个家系的两例患者相关医学检查获取临床资料,并取得含患者在内的20名家系成员的外周血液标本;PCR 扩增 DAX-1的全部外显子,扩增产物经纯化后直接测序进行基因检测。结果 2例患者 DAX-1第一外显子处均存在 T785C 半合子突变,家系中有5例女性为此突变的携带者。结论在1个中国人先天性肾上腺发育不良家系中发现 DAX-1新的点突变 T785C。
Objective To investigate the clinical features of a congenital adrenal dysplasia pedigree and to determine whether there is a dose-sensitive sex reversal in patients and their families, the congenital adaxypy gene 1 (DAX-1) mutation. Methods The clinical data of two patients in one pedigree were obtained and the peripheral blood samples of 20 pedigrees including patients were obtained. All the exons of DAX-1 were amplified by PCR, and after purification, Direct sequencing for genetic testing. Results T785C hemizygous mutation was found in the first exon of DAX-1 in two patients. Five of the pedigrees were carriers of this mutation. Conclusions A novel point mutation T785C of DAX-1 was found in a Chinese congenital adrenal hypoplasia.