X性连锁少汗性外胚叶发育不良一家系EDA基因突变检测

目的:检测1例X性连锁少汗性外胚叶发育不良患儿及其家族成员EDA基因的突变情况。方法:调查患儿家系,提取家系中患儿和正常人血液基因组DNA,设计引物扩增EDA基因的外显子及其侧翼区域,并对其产物进行测序后与100例健康对照者的测序结果进行比对。结果:患儿EDA基因发生编码区第466位核苷酸由胞嘧啶变为胸腺嘧啶(c.466C>T),该突变导致第156位氨基酸由精氨酸变为半胱氨酸(p.Arg156Cys),为错义突变。先证者母亲同一位置碱基呈C^T杂峰,患儿父亲和健康对照者未检测到突变。结论:错义突变c.466C>T是导致该X性连锁少汗性外胚叶发育不良家系临床表型的主要原因。

Mutation analysis of EDA gene in a pedigree with X-linked hypohidrotic ectodermal dysplasia

Objective: To detect the EDA gene mutations in a pedigree with X-linked hypohidrotic ectodermal dysplasia.Method: Genomic DNA was extracted from blood of children, uninvolved controls in a family as well as 100 normal healthy controls. Following amplification and sequencing, sequences of EDA gene and exons of flanking regions were compared between patients and healthy controls. Results: The proband had a missense mutation in EDA gene(c.466 C>T), resulting in replacement of an amino acid(p.Arg156 Cys). Heterozygous double peaks of nucleotide C and A at the same position were found in his mother, but neither in his father nor in 100 unrelated population-matched controls. Conclusion: The c.466 C>T missense mutation of EDA gene may be the pathologic cause of this pedigree with X-linked hypohidrotic ectodermal dysplasia.