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A Genome-Wide Screen for Hyposmia Susceptibility Loci

机译:全基因组筛查低氧敏感性基因座

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摘要

Olfactory dysfunction is an important public health problem in the United States,with approximately 14 million elderly Americans having chronic olfactory impairment.We performed a genome-wide linkage scan for loci influencing susceptibility to hyposmia in the Hutterites,a founder population of European ancestry.Using interviews regarding the olfactory medical history and psychophysical smell testing,we identified 25 individuals with severe hyposmia.Elimination of subjects with confounding conditions yielded 7 hyposmics for analysis.A 52-member pedigree including all affected individuals was constructed from the larger,>1623-member pedigree,and a genome-wide screen for loci influencing the trait of hyposmia using 1123 markers was performed.The most significant evidence for linkage with hyposmia extended over a 45 cM region on chromosome 4q(P = 0.0013).Although this signal meets the criteria for suggestive linkage only and will require replication,these results offer the strongest data to date on the effects of genetic variation on olfactory dysfunction.
机译:嗅觉功能障碍是美国一个重要的公共卫生问题,约有1400万老年人患有慢性嗅觉障碍。我们对全基因组连锁扫描进行了研究,以分析影响欧洲祖先的哈特人低渗症易感性的基因座。通过对嗅觉病史和心理物理气味测试的访谈,我们确定了25名严重低渗症患者。消除患有混杂疾病的受试者产生了7个低渗血症以进行分析。一个包括所有受影响个体的52人谱系由更大的,> 1623人组成谱系,并使用1123个标记对影响低渗性状的基因座进行了全基因组筛选。与低渗性连锁的最重要证据延伸到4q染色体上的45 cM区域(P = 0.0013)。尽管该信号符合标准仅用于暗示性链接,需要复制,这些结果提供了最强大的数据关于遗传变异对嗅觉功能障碍的影响。

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