Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation.
- Author:
Xia LIU
1
;
Li XIA
;
Jing-xia WANG
;
Yan-jie HAO
;
Jing YANG
;
Feng-qin LIU
;
Rui GUO
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; DNA Mutational Analysis; Epidermolysis Bullosa Simplex; genetics; pathology; Exons; Female; Humans; Hyperpigmentation; genetics; pathology; Keratin-14; genetics; Keratin-5; genetics; Male; Mutation; Pedigree; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2011;28(6):612-615
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.
METHODSGenomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.
RESULTSBy DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.
CONCLUSIONMutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.
