The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutation in the keratin 6A(K6A) gene in a pedigree with pachyonychia congenita type I (PC-I).</p><p><b>METHODS</b>Blood samples were obtained from 2 affected, 3 unaffected members in this family, and 100 unrelated healthy individuals. Mutation detection was carried out by PCR amplification of the K6A gene and direct DNA sequencing.</p><p><b>RESULTS</b>A heterozygous mutation of T--> C transition at position 521 in exon 1 of the K6A gene was found in the 2 affected, but not in the unaffected members and 100 unrelated healthy individuals.</p><p><b>CONCLUSION</b>The mutation of 521T--> C in the K6A gene is the disease causing mutation in this PC-I family.</p>