Tim-1基因多态性与湖北地区汉族成人变应性哮喘关系的研究

目的：分析湖北地区汉族成人T细胞免疫球蛋白域粘蛋白域蛋白-1(Tim-1)外显子4插入(ins)／缺失(del)多态性和内含子8拼接供体部位(间插序列intervening sequence，IVS)8 9G／A的单核苷酸多态性(Single Nucleotide Polymorphism，SNP)，探讨与支气管哮喘易感性的关系。方法：采用聚合酶链反应(PCR)检测100例湖北地区健康者和119例变应性哮喘患者Tim-1外显子ins／del和IVS8 9G／A的SNP，计算基因型和等位基因频率。结果：①湖北地区汉族健康成年人群Tim-1外显子4del／del纯合子、del／ins杂合子和ins／ins纯合的频率分别是0.620、0.300和0.080；Tim-1 IVS8 9G／G、G／A和A/A的频率分别是0.780、0.190和0.030。②变应性哮喘患者Tim-1外显子4del／del纯合子、del／ins杂合子和ins／ins纯合的频率分别是0.613，0.353，0.034，与对照组无显著性差异，Tim-1 IVS8 9G／G、G／A和A/A的频率分别是0.790，0.202，0.008，与对照组无显著性差异。结论：湖北汉族人群存在。Tim-1外显子4插入／缺失和IVS8 9G／A多态性，其分布与日本人群相似，Tim-1多态性与湖北地区汉族成人变应性哮喘无相关性。

Study on relation between two polymorphism sites of the exon 4 in Tim-1 and allergic asthma in adult population of the Han nationality from Hubei Province of China

Objective:To investigate the two polymorphism sites of the exon 4 and intron 8 in T cells,immunoglobulin domain and mucin domain protein-1(Tim-1,also Human hepatitis A virus cellular receptor-1)and allergic asthma in adult population of the Han nationality from Hubei Province of China.Methods:The ins/del polymorphism of the exon 4 in Tim-1 was detected with polymerase chain reaction,and a G/A polymorphism at intervening sequence(IVS) between exon 8 and exon 9(IVS8 9) in Tim-1 was deteted 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 0 080,0 300,and 0 620 respectively in healthy population of the Han nationality.We also found IVS8 9 G/A polymorphism.The genotype frequencies of A/A,G/A,G/G were 0 030,0 190,and 0 780 respectively.2 The genotype frequencies of ins/ins,ins/del,and del/del were 0 034,0 353,and 0 613 respectively in allergic asthma population in adult of the Han nationality.No significant difference in ins/del polymorphism was found between allergic asthma patients and control subjects.The authors also found ISV 8 9 G/A polmorphism.The genotype frequencies of A/A,G/A,G/G were 0 008,0 202,and 0 790 respectively in allergic asthma.No significant difference in IVS8 9 G/G 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 Han nationality from Hubei Province of China were as same as Japanese.The two polymorphism sites in Tim-1 are not associated with allergic asthma in adult Chinese.