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Identification of a novel splice mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 3
- DOI:
- 10.3321/j.issn:0412-4030.2008.03.007
- Key Word:
- 遗传性对称性色素异常症;基因,DSRAD;点突变
Abstract： 目的 鉴定遗传性对称性色素异常症家系DSRAD基因的突变.方法 收集遗传性对称性色素异常症1个家系成员的血样,提取基因组DNA,用PCR扩增结合:卣接测序的方法进行DSRAD基因的检测.在内含子区域检测到一个碱基替换后,进一步提取患者外周血RNA,行RT-PCR,直接测序后分析其异常剪接方式.结果 在该家系患者的11号内含子区域检测到1个非经典的剪接位点突变,(c.3021-2G＞A),RT-PCR结果发现,12号外显子缺失,在13号外显子处发生移码突变.结论 DSRAD基因11号内含子区域剪接位点突变(c.3021-2G＞A)造成mRNA的异常剪接,导致邻近的12号外显子缺失和13号外显子移码突变,从而引起该家系患者发病.
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