Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma.
- VernacularTitle:一个表皮松解性掌跖角化病家系的角蛋白9基因突变研究
- Author:
Yan-li LI
1
;
Na-na LI
;
Yan-ping WANG
;
Ming-rong LI
;
Li DAI
;
Ying DENG
;
Zhen LIU
;
De-zhi MU
;
Jun ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; DNA Mutational Analysis; methods; Female; Humans; Keratin-9; genetics; Keratoderma, Palmoplantar, Epidermolytic; genetics; Male; Molecular Sequence Data; Mutation
- From: Chinese Journal of Medical Genetics 2012;29(3):280-283
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze potential mutation of keration 9 gene (KRT9) in a Chinese family affected with epidermolytic palmoplantar keratoderma (EPPK) and to correlate genotype with the phenotype.
METHODSGenomic DNA was extracted from peripheral blood samples of 12 patients and 13 healthy individuals from the family and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 and 6 of KRT9 gene. PCR products were sequenced bidirectionally in order to identify potential mutations.
RESULTSA heterozygous transversional mutation, 488G→A, was identified in exon 1 of KRT9 gene in all patients, which has resulted in substitution of a glutamine residue for arginine acid at position 163 (R163Q) of the KRT9 protein. The same mutation was not found in the 13 healthy members from the family and 100 unrelated individuals.
CONCLUSIONThe 488G→A mutation of KRT9 gene is probably the cause of EPPK in this Chinese family.
