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哮喘属于气道慢性炎症性疾患,其发生是遗传因素与环境因素相互作用的结果。哮喘的遗传率约为36%-79%。国内外对哮喘家系或人群的连锁分析、关联研究等分子遗传学研究显示,哮喘相关基因及其多态性至少与人类多条染色体上的100多个基因关联。由于哮喘呈多基因、复杂性遗传方式,涉及的基因及单核苷酸多态性(SNP)位点众多,国内外对相关基因的研究结果多有不一,使得哮喘发病的分子机制至今不详。位于人类染色体5q31上的IL-13基因可能在哮喘的发病机制中具有重要作用。外显子组捕获测序以及即将面世的第三代测序或单分子实时测序技术,是目前寻找哮喘易感基因的最好方法。
Asthma is a chronic airway inflammatory disease that occurs as a result of interactions between genetic and environmental factors. The heritability of asthma is about 36% -79%. Linkage analysis and association studies of asthma pedigrees or populations both at home and abroad show that asthma related genes and their polymorphisms are associated with at least over 100 genes on human chromosomes. Due to the multi-gene and complex inheritance of asthma, many genes and single nucleotide polymorphisms (SNPs) are involved, the research results of related genes are different at home and abroad, so far the molecular mechanism of asthma pathogenesis is still unknown . The IL-13 gene located on human chromosome 5q31 may play an important role in the pathogenesis of asthma. Exome capture sequencing and forthcoming third-generation sequencing or single-molecule real-time sequencing technology is currently the best way to find asthma susceptibility genes.