Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>A missense mutation G298A of the IHH gene might be the molecular basis for the brachydactyly type A1 in this family from Shandong province.</p>