毛囊角化病一家系ATP2A2基因突变的检测

Detection of ATP2A2 gene mutation in a pedigree with Darier's disease

目的检测一毛囊角化病家系的ATP2A2基因突变。方法提取患者外周血DNA,采用聚合酶链反应(PCR)及DNA直接测序方法,检测患者ATP2A2基因突变。结果该家系先证者及其母亲、舅舅存在一个新的ATP2A2基因错义突变,即在ATP2A2基因第18外显子核苷酸2728位碱基A变成G(c.2728 A→G),导致患者在910位(p.910N→D)将天冬酰胺(AAC)替换为天冬氨酸(GAC),而该家系中其他正常者未发现此突变。结论研究结果支持单倍型遗传是毛囊角化病显性遗传的一种常见机制。

Objective To detect ATP2 A2 gene mutation in a pedigree with Darier’s disease. Methods Genomic DNA was extracted from peripheral blood of the patients with Darier’s disease, and the mutation of ATP2 A2 gene was detected by polymerase chain reaction(PCR) and direct DNA sequencing. Results A new missense mutation was found in the proband, as well as his mother and uncle: a change of A to G at nucleotide position 2728(c.2728 A→G) was identified in exon 18 in ATP2 A2 gene resulting in the substitution of Asparagine(AAC) with aspartic acid(GAC) at position 910(N910D), which was not found in the other healthy individuals of the family. Conclusion The results support the proposition that haploinsufficiency is a common mechanism of the dominant inheritance of Darier’s disease.