CAJ | 학술논문

轴前多指(PPD)是人类常见的肢体畸形.Shh在胚胎肢芽前部的异位表达可直接导致PPD的发生,而Lmbr1基因结构的变异与多指表型密切相关.PPD的候选基因定位于人染色体7q36上的450 kb内.最近对多个家系的研究发现,Lmbr1中的顺式调控元件对Shh的远距离调控是引起PPD的关键分子机制.
축전다지(PPD)시인류상견적지체기형.Shh재배태지아전부적이위표체가직접도치PPD적발생,이Lmbr1기인결구적변이여다지표형밀절상관.PPD적후선기인정위우인염색체7q36상적450 kb내.최근대다개가계적연구발현,Lmbr1중적순식조공원건대Shh적원거리조공시인기PPD적관건분자궤제.
Preaxial polydactyltv(PPD)is one of the most frequently observed human limb developmental disorders.Shh ectopically expression and Lmbr1 mutation induce supernumerary digits.PPD genes have been mapped to a 450 kb region on chromosome 7q36.Previous pedigree studies shows that the long-range cisregulation for Shh in Lmbr1 play a key role in PPD.