摘要
为了检测具有典型临床、病理及免疫组化表现的大疱性先天性鱼鳞病样红皮病患者及其家族成员的基因点突变，通过聚合酶链反应结合ＤＮＡ直接测序的方法对患者的Ｋ１０第一外显子进行了分析。结果表明患病成员Ｋ１０基因的第１５６密码子发生了Ｃ→Ａ的碱基替换，从而导致精氨酸变成丝氨酸，并破坏了ＡｃｉⅠ的酶切位点，而患者家族中未发病成员均未见有基因突变。该突变位于编码角蛋白Ｋ１０的１Ａ亚区。
Bullous congenital ichthyosiform erythroderma(BCIE) is an autosomally dominant dermatosis. Recent investigations have suggested that K1/K10 gene point mutations may be responsible for this disease. In this study, we analyzed the K10 Exon 1 of a family with BCIE by PCR and DNA sequencing. The patient had typical clinical, histopathological and immunohistochemical manifestations of BCIE. The result showed that condon 156 of K10 gene had a C→A subsititution, which caused arginine to change into serine in 1A subdomain of rod domain of K10 protein. This mutation was found only in the patient, but not in unaffected family members. Our study may provide a reliable basis for the genetic diagnosis of BCIE.
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
1997年第6期374-376,共3页
Chinese Journal of Dermatology
