[Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].
OBJECTIVE
To determine the inheritance mode and pathogenesis of a family with brachydactyly type A1 in Jining, Shandong province via clinical feature and disease gene analysis.


METHODS
Family 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.


RESULTS
The 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.


CONCLUSIONS
A missense mutation G298A of the IHH gene might be the molecular basis for the brachydactyly type A1 in this family from Shandong province.
Ke
Xin
X
Department of Orthopedics, Weihai Economic and Technological Development Zone Hospital of Shandong Province, and Institute of Medical Genetics, Shandong University, Shandong, 264205 PR China. kexin1960@sina.com
Dong
Ai-ling
AL
Liu
Qi-ji
QJ
D001483:Base Sequence; D002681:China; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome
D053823:Hedgehog Proteins