摘要
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 hedgehoggene)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。
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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2009年第3期267-271,共5页
Chinese Journal of Medical Genetics
关键词
IHH基因
A1型短指
连锁分析
单体型
微卫星多态
indian hedgehog gene
brachydactyly type A1
linkage analysis
haplotype
microsatellite polymorphism