脊柱骨骺发育不良的分子遗传学研究进展  

Progress in studies on molecular genetics of spondyloepiphyseal dysplasia

作　　者：夏欣一[1] 周鑫[1] 崔英霞[1] 

机构地区：[1]南京大学医学院临床学院(南京军区南京总医院)解放军检验医学研究所中心实验科,江苏南京210002

出　　处：《医学研究生学报》2009年第11期1217-1219,1224,共4页Journal of Medical Postgraduates

基　　金：江苏省科技厅生殖健康研究技术服务平台项目(批准号:BM2008151)

摘　　要：脊柱骨骺发育不良(SED)是一组由于基因突变导致脊柱和骨骺畸形的疾病,主要临床表现包括非匀称性矮身材(短躯干)、胸部畸形和早发性关节退行性变。SED一般分为为先天性(SEDC)和迟发性(SEDT)两大类。《国际遗传性骨病分类标准(2006年版)》共纳入372种遗传性骨病,已明确其中215种与一个或多个基因突变相关,相关致病基因约140个。SEDC的发生通常与12号染色体长臂上编码Ⅱ型胶原的COL2A1基因突变有关,而SEDT的致病基因则为定位于X短臂(Xp22)的SEDL基因。文中简要综述了SEDC、SEDT以及其他少见类型的SED的分子遗传学研究进展,有助于SED的基因诊断与产前诊断。Spondyloepiphyseal dysplasia （SED） includes a group of disorders that cause deformation of vertebrae and epiphyses following gene mutations. Its main clinical manifestations are short stature （with a disproportionately short-trunk）, chest malformation and early - onset joint degeneration. These disorders are broadly categorized into two subtypes： eongenita （SEDC） and tarda （SEDT）. In the 2006 revision of the International Nosology and Classification of Genetic Skeletal Disorders, 372 different conditions were listed, of which 215 were associated with one or more of 140 different genes. SEDC has consistently been shown to correlate with defects in the gene COL2A1 on the long arm of chromosome 12, whose product is needed to form normal type-II collagen. The gene responsible for SEDT is SEDL, mapped to the short arm of the X chromosome （Xp22）. This paper briefly reviews the progress in the studies of molecular genetics of SEDC, SEDT and other rare forms of SED, which might provide some practical help for genetic and prenatal diagnoses of SED.

关 键 词：脊柱骨骺发育不良 分子遗传学 基因诊断 产前诊断 

分 类 号：Q754[生物学—分子生物学]