2个先天性肾上腺发育不良家系中DAX-1基因的新突变

目的:探讨2个X-连锁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DAX-1基因突变。方法:对2个家系中4例患者分别进行相关医学检查获取临床资料,并取得所有患者及其家系成员的外周血标本;提取全血基因组DNA,PCR扩增DAX-1基因的2个外显子,包括外显子和内含子边界,扩增产物经纯化后直接测序进行基因检测。测序结果在核苷酸序列数据库进行比较分析。结果:1个家系中的3例患者(均为青春期前发病)DAX-1基因第1外显子处均存在119-120insT半合子移码突变,家系中有2例女性为此突变的杂合子;另1个家系中的1例患者(青春期发病)DAX-1基因第1外显子处存在993delC半合子移码突变,家系中有3例女性为此突变的杂合子。结论:在2个中国先天性肾上腺发育不良家系中发现DAX-1新的移码突变119-120insT和993delC。

Novel DAX-I mutations in two Chinese families with X-linked congenital adrenal hypoplasia

Objective ： To explore the clinical features of two families with X-linked congenital adre- nal hypoplasia and detect the DAX-1 mutations in patients and their relatives. Methods ： The clini- cal data of four patients in two families with X-linked congenital adrenal hypoplasia were obtained. Peripheral blood samples from all the members of two families were cllected to extract genomic DNA. Two exons including exon and intron boundary in DAX-1 gene were amplified by PCR, fol- lowed by DNA purfication and sequencing. The results were analyzed with nucleotide sequence da- tabase. Results： There was a 119-120insT hemizygote frameshift mutation in the first exon of DAX- 1 gene in three patients from one family, including two females with heterozygous mutation. There was a 993delc hemizygote frameshift mutation in one patient from the other family, including three females with heterozygous mutation. Conclusion： Novel DAX-1 mutations including 119-120insT and 993de1C were found in two Chinese families with X-linked congenital adrenal hypoplasia.