【摘要】 目的　检测湖北地区汉族儿童T细胞免疫球蛋白域粘蛋白域蛋白 1(Tcell,immunoglobulindomainandmucindomainprotein 1,TIM 1)基因第 4外显子插入 /缺失多态性和第 8内含子拼接供体部位(interveningsequence ,IVS) 8+9G/A的单核苷酸多态性 (singlenucleotidepolymorphism ,SNP) ,探讨与儿童变应性支气管哮喘易感性的关系。方法　采用聚合酶链反应检测TIM 1第 4外显子插入 /缺失多态性 ,同时采用PCR 限制性片段长度多态性检测 92名湖北地区健康者和 110例变应性哮喘患儿TIM 1IVS 8+9G/A的SNP ,计算基因型和等位基因频率。结果　 ( 1)湖北地区汉族健康儿童TIM 1第 4外显子缺失 /缺失纯合子、插入 /缺失杂合子和插入 /插入纯合的频率分别是 0 .60 8、0 .3 2 6和 0 .0 65 ;TIM 1IVS 8+9G/G、G/A和A/A的频率分别是 0 .783、0 .196和 0 .0 2 2。 ( 2 )变应性哮喘患儿TIM 1第 4外显子缺失 /缺失纯合子、插入 /缺失杂合子和插入 /插入纯合的频率分别是 0 .63 6,0 3 18,0 .0 45 ,与对照组比较差异无显著性 ,TIM 1IVS 8+9G/G、G/A和A/A的频率分别是 0 .782 ,0 .2 0 9,0 .0 0 9,与对照组比较差异无显著性。结论　湖北汉族儿童存在TIM 1第 4外显子插入 /缺失和第 8内含子IVS 8+9G/A多态性 ,其分布与日本人群相似 ,TI更多还原

【Abstract】 Objective To investigate two polymorphism sites of exon 4 in T cells, immunoglobulin domain and mucin domain protein-1(TIM-1, also human hepatitis A virus cellular receptor-1) and to detect whether they are associated with allergic asthma in children of the Hans in Hubei province of China. Methods The ins/del and IVS 8+9 G/A polymorphisms in TIM-1 were detected with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The genotypes and alleles frequencies were calculated and analyzed. Results (1) Two alleles, a wide type del and a variant allele ins were identified in the TIM-1 exon 4. The genotype frequencies of ins/ins, ins/del, and del/del were 0.065,0.326, and 0.608 respectively in the healthy population of the Hans. Another IVS 8/9 G/A polymorphism was also found. The genotype frequencies of A/A, G/A, G/G were 0.022, 0.196 and 0.783, respectively. (2) The genotype frequencies of ins/ins, ins/del, and del/del were 0.045, 0.318, and 0.636 respectively in the allergic asthma population in children of the Hans. No significant difference in ins/del polymorphism was found between allergic asthama patients and control subjects. Another 8/9 IVS G/A polymorphism was also found. The genotype frequencies of A/A, G/A and G/G were 0.009, 0.209 and 0.782 respectively in allergic asthma. No significant difference in IVS G/A polymorphism was found between allergic asthma patients and control subjects. Conclusion The genotype and allele frequencies in the two polymorphism sites in TIM-1 in healthy population of the Hans from Hubei province of China were similar to those in Japanese. The two polymorphism sites of TIM-1 are not associated with allergic asthma in Chinese children.更多还原