Chan Vivian, Fong Gardian C Y, Luk Keith D K, Yip Ben, Lee Miu-Kuen, Wong Man-Sim, Lu David D S, Chan Tai-Kwong
Division of Molecular Medicine, University Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong Special Administrative Region, China.
Am J Hum Genet. 2002 Aug;71(2):401-6. doi: 10.1086/341607. Epub 2002 Jun 28.
Adolescent idiopathic scoliosis (AIS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was performed. Multipoint linkage analysis by GENEHUNTER revealed significant linkage of the abnormal phenotype to the distal short arm of chromosome 19, with both a maximum multipoint LOD score and a nonparametric LOD score of 4.93. Two-point linkage analysis by MLINK gave a LOD score of 3.63 (recombination fraction theta[m=f]=0.00) at D19S216. Further high-density mapping and informative recombinations defined the AIS critical region in the vicinity of D19S216, flanked by D19S894 and D19S1034, spanning 5.2 cM on the sex-averaged genetic map on chromosome 19p13.3.
青少年特发性脊柱侧凸(AIS)是最常见的骨科疾病之一,全球多达4%的学童受其影响。我们研究了7个患有AIS的、无亲缘关系的华裔南方多重家庭,其中包括25名患病成员。使用400多个荧光微卫星标记进行了全基因组扫描。GENEHUNTER软件进行的多点连锁分析显示,异常表型与19号染色体短臂远端显著连锁,最大多点LOD分数和非参数LOD分数均为4.93。MLINK软件进行的两点连锁分析在D19S216处得出LOD分数为3.63(重组率θ[m=f]=0.00)。进一步的高密度定位和信息性重组确定了AIS关键区域位于D19S216附近,两侧分别为D19S894和D19S1034,在19号染色体p13.3的性别平均遗传图谱上跨度为5.2厘摩。