Miller Nancy H, Justice Cristina M, Marosy Beth, Doheny Kimberly F, Pugh Elizabeth, Zhang Jun, Dietz Harry C, Wilson Alexander F
Johns Hopkins University, Baltimore, MD, USA.
Spine (Phila Pa 1976). 2005 May 15;30(10):1181-7. doi: 10.1097/01.brs.0000162282.46160.0a.
A genomic screen and statistical linkage analysis of 202 families with at least two individuals with idiopathic scoliosis was performed.
To identify candidate regions or the autosomal loci that may be involved in the expression of familial idiopathic scoliosis.
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.
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.
Candidate regions on chromosomes 6, 9, 16, and 17 were considered to have the strongest evidence for linkage across all subsets considered.
Linkage analyses have identified several candidate regions, a significant step in defining the genetic etiology of this disorder.
对202个至少有两名特发性脊柱侧凸患者的家庭进行了基因组筛查和统计连锁分析。
确定可能与家族性特发性脊柱侧凸表达相关的候选区域或常染色体基因座。
确定了一个包含患有特发性脊柱侧凸个体的大量家庭样本（202个家庭；1198名个体）；诊断基于体格检查和影像学标准。
使用与脊柱侧凸相关的定性和定量性状（侧弯程度）的非模型依赖连锁分析，对202个家庭中391个标记的基因分型数据进行筛查。在基因分型之前，根据每个家庭最可能的遗传模式（常染色体显性遗传与X连锁显性遗传）确定家庭子集。精细定位结果证实了主要候选区域中的连锁关系。
在所有考虑的子集中，6号、9号、16号和17号染色体上的候选区域被认为具有最强的连锁证据。
连锁分析已确定了几个候选区域，这是确定该疾病遗传病因的重要一步。
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