Answering a century old riddle: brachydactyly type Al  

Answering a century old riddle:brachydactyly type A1

作　　者：BoGAO LinHE 

机构地区：[1]InstituteforNutritionalSciences,ShanghaiInstitutesforBiologicalSciences,ChineseAcademyofSciencesShanghai200031,China [2]NeuropsychiatricandHumanGeneticsGrotup,Bio-XLifeScienceResearchCenter,ShanghaiJiaotongUniversity,Shanghai200030,China

出　　处：《Cell Research》2004年第3期179-187,共9页细胞研究（英文版）

基　　金：This project was supported by NSFC/RGC joint Research Grant(No.N-HKU705/02);the Major State Basic Research Development Program of China(No.2001CB5 10301).

摘　　要：In 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as type A1 (BDA1). Over 100 cases from different ethnic groups have so far been reported. However, the real breakthrough in identifying the cause of BDA1 has only taken place in the last few years with the progress of the mapping and identification of one of the genes responsible for this disorder, thus providing an answer for a century old riddle. In this article, we attempt to review the current state of knowledge on the genetic features of BDA1 with its century-old history and signalling pathway of IHH, and also discuss genotype-phenotype correlation not only of BDA1, but also of all types of brachydactyly.

关 键 词：BRACHYDACTYLY IHH GDF5 ROR2 BMPRIB. 

分 类 号：Q987[生物学—遗传学] Q343[生物学—人类学]