遗传性对称性色素异常症一家系基因检测

目的 探讨遗传性对称性色素异常症(DSH)家系中双链RNA特异性腺苷脱氨酶(DSRAD)基因的突变.方法 收集患者临床资料,提取外周血DNA,PCR扩增DSRAD基因的全部外显子,并行DNA测序,以100例正常人作对照.结果 检测到家系中患者均存在DSRAD基因中第3076位碱基发生C→T的杂合突变,即c.3076C>T,对应1026位的精氨酸被色氨酸替代(p.R1026W),家系中未患病者及对照组正常人未发现相应突变.结论 发现p.R1026W错义突变是遗传性对称性色素异常症的致病基因的一个新突变,扩大DSH致病基因的突变谱.

Detection of DSRAD gene in a family with dyschromatosis symmetrica hereditaria

Objective To detect the mutation of DSRAD gene in a family with dyschromatosis synunetrica hereditaria (DSH). Methods Based on family survey, blood samples were obtained from the proband and her parents, as well as from 100 unrelated normal human controls. The whole coding region of DSRAD gene was amplified by PCR followed by direct sequencing. Results There was a C to T change at position c3076 (c.3076C > T) in exon 12 of DSRAD gene, which leads to a substitution of arginine by tryptophane at position 1026 (p.R1026W), was detected in the proband and her affected mother, but not in the unaffected father or unrelated controls. Conclusions A missense mutation p.R1026W is detected in exon 12 of DSRAD gene in the family with DSH, which will expand the database on DSRAD gene mutations in DSH.