一种位于I型角蛋白（K14）基因中的突变（甲硫氨酸→精氨酸），该基因与常染色体显性单纯性大疱性表皮松解症相关。
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
作者信息
Humphries M M, Sheils D M, Farrar G J, Kumar-Singh R, Kenna P F, Mansergh F C, Jordan S A, Young M, Humphries P
机构信息
Department of Genetics, Trinity College, Dublin, Ireland.
出版信息
Hum Mutat. 1993;2(1):37-42. doi: 10.1002/humu.1380020107.
We have identified a single base change in exon 4 of the type I keratin gene which results in the replacement of a methionine for an arginine residue at codon 272 in an Irish family displaying an autosomal dominant simplex (Koebner) form of epidermolysis bullosa (EB). This family had previously provided tentative evidence for linkage to genetic markers on chromosome 1q. The mutation cosegregates with the disease, producing a lod score of 4.8 at theta = 0.
我们在I型角蛋白基因的外显子4中发现了一个单碱基变化，该变化导致一个爱尔兰家族中272密码子处的精氨酸残基被甲硫氨酸取代，该家族表现为常染色体显性单纯型（Koebner型）大疱性表皮松解症（EB）。这个家族之前曾提供了与1号染色体上遗传标记连锁的初步证据。该突变与疾病共分离，在θ = 0时产生的连锁值为4.8。
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