一个短指家系临床特征调查及其致病基因的定位

目的 通过对山东省一个A1型短指(brachydactyly type A1,BDA1)家系的临床特征及致病基因分析,确定该病的遗传类型及其发生机制.方法 经家系调查及临床检查确定疾病类型;通过致病基因微卫星多态位点进行连锁分析;采用修饰引物产生引入酶切位点的方法来区分突变基因.结果 该家系的短指症为A1型,常染色体显性遗传;发病原因为位于染色体2q35-2q36的IHH基因(indian hedgehog gene)发生了G298A(D100N)错义突变.结论 中国山东A1型短指家系的发病机理是IHH基因发生了G298A(D100N)错义突变所致.

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. Method 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.