Ke Xin, Dong Ai-ling, Liu Qi-ji
Department of Orthopedics, Weihai Economic and Technological Development Zone Hospital of Shandong Province, and Institute of Medical Genetics, Shandong University, Shandong, 264205 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):267-71. doi: 10.3760/cma.j.issn.1003-9406.2009.03.007.
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.
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.
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.
A missense mutation G298A of the IHH gene might be the molecular basis for the brachydactyly type A1 in this family from Shandong province.
通过临床特征和疾病基因分析，确定山东省济宁市一个A1型短指症家系的遗传方式及发病机制。
进行家系调查和临床检查以确定遗传方式；分别采用微卫星多态性标记和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行连锁分析和突变筛查。
该家系的短指症类型为A1型（BDA1），呈常染色体显性遗传。在该家系患者中鉴定出印度刺猬基因（IHH）的一个错义突变（G298A）。
IHH基因的错义突变G298A可能是该山东省家系A1型短指症的分子基础。
