Identification of candidate regions for familial idiopathic scoliosis
Identification of candidate regions for familial idiopathic scoliosis
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DOI：
10.1097/01.brs.0000162282.46160.0a
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发表时间：
2005-05-15
期刊：
影响因子：
3
通讯作者：
Wilson, AF
中科院分区：
文献类型：
--
作者：
Miller, NH;Justice, CM;Wilson, AF
研究设计.对202个至少有两个特发性脊柱侧凸患者的家系进行基因组筛查和统计学连锁分析。目的：确定可能参与家族性特发性脊柱侧凸表达的候选区域或常染色体基因座。确定了一个大样本的特发性脊柱侧凸的家庭（202个家庭; 1，198个人）;诊断基于体格检查和放射学标准。采用非模型依赖的连锁分析方法，对202个脊柱侧凸家系的391个标记进行基因分型。在基因分型之前，根据每个家族最可能的遗传模式（常染色体显性与X连锁显性）确定家族子集。精细作图结果证实了在主要候选区域的连锁。第6、9、16和17号染色体上的候选区域被认为在所有考虑的子集中具有最强的连锁证据。连锁分析已经确定了几个候选区域，这是确定这种疾病遗传病因的重要一步。
Study Design. A genomic screen and statistical linkage analysis of 202 families with at least two individuals with idiopathic scoliosis was performed.Objectives. To identify candidate regions or the autosomal loci that may be involved in the expression of familial idiopathic scoliosis.Summary of Background Data. A large sample of families with individuals having idiopathic scoliosis (202 families; 1,198 individuals) was ascertained; diagnoses were based on physical examination and radiographic criteria.Methods. Model-independent linkage analysis of qualitative and quantitative traits (degree of lateral curvature) related to scoliosis was used to screen genotyping data from 391 markers in the 202 families. Subsets of families were determined before genotyping based on the most likely mode of inheritance for each family (autosomal dominant vs. X-linked dominant). Fine mapping results corroborated linkage in the primary candidate regions.Results. Candidate regions on chromosomes 6, 9, 16, and 17 were considered to have the strongest evidence for linkage across all subsets considered.Conclusion. Linkage analyses have identified several candidate regions, a significant step in defining the genetic etiology of this disorder.