21-羟化酶基因缺乏症的家系报道

摘要

目的 通过对1个21-羟化酶缺乏症家系进行CYP21基因检测,探讨该家系中CYP21基因突变的种类和特点.方法 收集该家系中2例患者及部分家系成员外周血,提取基因组DNA,根据CYP21基因与假基因序列特异性差异,设计5对高度特异引物扩增CYP21基因,进行聚合酶链反应后直接测序.结果 该家系中2例患者共检测到2种基因突变,分别为I172N、Q318X杂合突变,其中Q318X来源于父亲,I172N为自发突变.结论 21-羟化酶基因突变中部分点突变可导致严重后果,对该类患者家系进行基因突变检测,不仅为诊断提供直接依据,而且能指导遗传咨询,具有重要的临床意义.%Objective To investigate the types and characteristics of CYP21gene mutation by conducting the CYP21gene detection in 1family of 21-hydroxylase deficiency.Methods The peripheral blood samples in2patients and partial family members of this family were collected for extracting genomic DNA.The five pairs of highly specific primers were designed for amplifying CYP21gene according to the specific difference between CYP21 gene and its pseudogene sequence.The direct sequencing was performed after PCR.Results The two types of gene mutation were detected in 2patients of this family, which were 172Nand Q318Xheterozygous mutation respectively, in which Q318Xwas from the father, and I172N was spontaneous mutation.Conclusion In CYP21mutation, some point mutations can lead to serious consequences.Conducting the gene mutation detect in the family of these patients can not only provide the direct basis for diagnosis, but also can guide the genetic consultation, and has an important clinical significance.