Nickel R, Wahn U, Hizawa N, Maestri N, Duffy D L, Barnes K C, Beyer K, Forster J, Bergmann R, Zepp F, Wahn V, Marsh D G
Department of Medicine, Johns Hopkins University, Baltimore, Maryland 21224, USA.
Genomics. 1997 Nov 15;46(1):159-62. doi: 10.1006/geno.1997.5013.
Linkage of asthma and high total serum IgE levels to chromosome 12q15-q24.1 has been recently described. To evaluate this region further in regard to total IgE responsiveness, we genotyped 52 unrelated German children with persistently "high" total serum IgE (selected from a noninterventional prospective multicenter cohort study) and their parents. We carefully defined a most extreme IgE phenotype and analyzed it as a dichotomous trait. We tested for linkage between high total IgE concentrations and nine polymorphic microsatellite markers on chromosome 12q15-q24.1 using the transmission/disequilibrium test. Evidence for linkage and allelic association for high total IgE was observed for four markers in this region. This study demonstrates the value of using extreme phenotypes in genetic analysis of a complex quantitative trait.
哮喘与血清总IgE水平升高与12号染色体q15 - q24.1的连锁关系最近已有报道。为了进一步评估该区域与总IgE反应性的关系，我们对52名血清总IgE持续“高”的德国无关儿童（选自一项非干预性前瞻性多中心队列研究）及其父母进行了基因分型。我们仔细定义了一种最极端的IgE表型，并将其作为二分性状进行分析。我们使用传递/不平衡检验，检测了12号染色体q15 - q24.1上总IgE浓度升高与9个多态性微卫星标记之间的连锁关系。在该区域的4个标记中观察到总IgE升高的连锁和等位基因关联证据。这项研究证明了在复杂数量性状的遗传分析中使用极端表型的价值。
