The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I.
- Author:
Lijia YANG
1
;
Ming LI
;
Meiling LAI
;
Jingjing NI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Child; Child, Preschool; Female; Humans; Keratin-6; genetics; Male; Molecular Sequence Data; Pachyonychia Congenita; genetics; Pedigree; Point Mutation
- From: Chinese Journal of Medical Genetics 2010;27(1):66-68
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the mutation in the keratin 6A(K6A) gene in a pedigree with pachyonychia congenita type I (PC-I).
METHODSBlood 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.
RESULTSA 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.
CONCLUSIONThe mutation of 521T--> C in the K6A gene is the disease causing mutation in this PC-I family.
