遗传性对称性色素异常症一家系DSRAD基因新突变

A new mutation of DSRAD gene in a family with dyschromatosis symmetrica hereditaria

目的:检测遗传性对称性色素异常症家系中DSRAD基因的突变。方法:收集遗传性对称性色素异常症-家系成员的血样,PCR扩增DSRAD基因的全部外显子,并行DNA测序。以100例无家系背景,且无色素异常的成年人作对照。结果:该家系中的患者均存在DSRAD基因中第3463位碱基发生了C→T的杂合突变,可造成对应1155位的精氨酸被色氨酸替代,家系中非患病者及对照组正常人未发现相应突变。结论:DSRAD基因是遗传性对称性色素异常症的致病基因。

Objective： To identify mutations of DSRAD gene in a dyschromatosis symmetrica hereditaria （DSH） family. Methods： The members of a DSH family were collected. The whole coding region of DSRAD gene was amplified by polymerase chain reaction （PCR） and PCR products were analyzed by direct sequencing. As control the DNA samples from 100 unrelated, normal adult individuals were also included. Results： A transition of 3463 C→T was detected, which leading to a missense mutation （R1155W） in DSRAD gene of 5 patients. The same point mutation was not found in normal individuals of this DSH family and in 100 normal controls. Conclusion： The data suggest that R1155W missense mutation is the pathogenic gene of DSH, which is a new mutation in exon 15 of DSRAD gene.