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Polymorphisms of Keratin 16 and 6A Genes in Two Chinese Families with Pachyonychia Congenita Type Ⅰ
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 2
- DOI:
- 10.3760/j.issn:0412-4030.2005.02.001
- Key Word:
- 先天性甲肥厚;角蛋白;多态性,单核苷酸;KRT16基因;KRT6A基因
Abstract： 目的研究Ⅰ型先天性甲肥厚患者角蛋白16和6A基因多态现象.方法提取患者及其家系成员外周血基因组DNA,其中1个家系有家族史,有4代7例患者,另一为1个散发病例,无家族史.采用聚合酶链反应扩增KRT16和KRT6A基因的全部编码序列,DNA直接测序,限制性内切酶反应验证.结果有家族史患者KRT16基因DNA测序时发现其2～3外显子间内含子序列缺失1个碱基G,导致此后的测序结果有很多套峰(出现很多N),经限制性内切酶反应证实是一种多态现象而不是基因突变;同时KRT6A基因第4外显子测序时发现已知的879C＞T单核苷酸多态性改变.散发患者的KRT16基因1252C＞T单碱基置换,418位密码子CGC被TGC替代,精氨酸变为半胱氨酸(R418C).但患者表型正常的母亲为1252 T纯合子,表型正常的父亲为1252 C纯合子,提示1252C＞T属于多态性改变;同KRT6A基因的第1外显子检出已知的483T＞C和495 A＞G单核苷酸多态性改变.结论本研究在中国Ⅰ型先天性甲肥厚患者中发现新的、可引起编码氨基酸改变的单核苷酸多态性,同时检测到已知的单核苷酸多态性.
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