Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene.
- Author:
Xin KE
1
;
Ai-ling DONG
;
Qi-ji LIU
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; China; Family; Female; Genetic Predisposition to Disease; Genotype; Hedgehog Proteins; genetics; Humans; Limb Deformities, Congenital; genetics; Male; Mutation; Mutation, Missense; Pedigree; Phenotype; Polymorphism, Restriction Fragment Length; Syndrome
- From: Chinese Journal of Medical Genetics 2009;26(3):267-271
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the inheritance mode and pathogenesis of a family with brachydactyly type A1 in Jining, Shandong province via clinical feature and disease gene analysis.
METHODSFamily survey and clinical examinations were performed to determine the inheritance mode; microsatellite polymorphic markers and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)were employed for linkage analysis and mutation screening respectively.
RESULTSThe brachydactyly type of the family was type A1 (BDA1), and autosomal dominant inheritance. A missense mutation (G298A) of the indian hedgehog gene (IHH) was identified in the patients of this family.
CONCLUSIONA missense mutation G298A of the IHH gene might be the molecular basis for the brachydactyly type A1 in this family from Shandong province.
