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肺结核易感性——一项群体遗传学研究。

Susceptibility to lung tuberculosis--a population-genetic study.

作者信息

Pesut Dragica

机构信息

Institute of Lung Diseases and Tuberculosis, University of Belgrade School of Medicine, Clinical Centre of Serbia, Belgrade.

出版信息

Med Pregl. 2004;57 Suppl 1:21-4.

Abstract

The aim of this study was to compare the genetic structure of lung tuberculosis (LTB) patients (Pts) to healthy controls i.e. to evaluate dependency of LTB occurrence and course of the disease in regard to subject's genetic constitution. The study group consisted of 100 LTB Pts, while the same number of healthy non-sibling individuals served as controls. The groups were analyzed with respect to homozygous recessive characteristics (HRC) that served as genetic markers, which were studied in each subject. Twenty-three HRCs were chosen according to HRC-test rules. The results show significant difference in average HRC number between two samples, a decreased number in Pts group, total cumulative chi2 difference (p<0.001) and frequency distribution (p = 0.0027). We conclude that the analyzed groups make two different samples in regard to their population-genetic structure. It means that they may give a different response to similar environmental agents. A significantly decreased HRC number in the Pts group may be a manifestation of their decreased degree of homozygosity and indicate a dominant factor inluence in predisposition to LTB. It is possible that individuals with such genetic and physiological constitution are more liable to infection/disease caused by M. tuberculosis. Deviation from optimal degree of homozygosity appoints to possibility of altered genetic-physiological organism homeostasis and its altered reaction norm that leads to illness. Particular phenotype distribution analysis of significantly decreased frequency of HRC and characteristic expression (eye and hair colour) suggest that there is a possibility of related gene alleles association with genetic basis for susceptibility to TB in humans.

摘要

本研究的目的是比较肺结核(LTB)患者与健康对照的基因结构,即评估LTB发病及病程与受试者基因构成的相关性。研究组由100例LTB患者组成,同时选取相同数量的无血缘关系的健康个体作为对照。对两组进行分析,以纯合隐性特征(HRC)作为基因标记,对每个受试者进行研究。根据HRC测试规则选择了23个HRC。结果显示,两个样本的平均HRC数量存在显著差异,患者组数量减少,总累积卡方差异(p<0.001)和频率分布(p = 0.0027)。我们得出结论,就群体遗传结构而言,分析的两组构成了两个不同的样本。这意味着它们对相似的环境因素可能会有不同的反应。患者组中HRC数量显著减少可能表明其纯合度降低,这是LTB易感性中一个显性因素影响的表现。具有这种基因和生理构成的个体可能更容易感染结核分枝杆菌/患病。偏离最佳纯合度表明基因 - 生理机体稳态改变及其反应规范改变导致疾病的可能性。对HRC频率显著降低和特征表达(眼睛和头发颜色)的特定表型分布分析表明,人类中可能存在与结核易感性遗传基础相关的基因等位基因关联。

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