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  • Title: [Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].
    Author: Ke X, Dong AL, Liu QJ.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):267-71. PubMed ID: 19504437.
    Abstract:
    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. CONCLUSION: A missense mutation G298A of the IHH gene might be the molecular basis for the brachydactyly type A1 in this family from Shandong province.
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