[The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I].
OBJECTIVE
To identify the mutation in the keratin 6A(K6A) gene in a pedigree with pachyonychia congenita type I (PC-I).


METHODS
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.


RESULTS
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.


CONCLUSIONS
The mutation of 521T--> C in the K6A gene is the disease causing mutation in this PC-I family.
Yang
Lijia
L
Department of Dermatology, Wuxi Second Affiliated Hospital, Nanjing Medical University, Wuxi, Jiangsu, 214002 P.R. China.
Li
Ming
M
Lai
Meiling
M
Ni
Jingjing
J
D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D053553:Keratin-6 / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D053549:Pachyonychia Congenita / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
D053553:Keratin-6