Cui Tian-pen, Jin Jing, Liu Chang-yu, Wu Xue-lan, Wu Jian-min, Hu Li-hua
Immunology Laboratory, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Aug;21(4):403-6.
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.
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.
(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 asthma 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.
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.
研究T细胞免疫球蛋白黏蛋白结构域蛋白1(TIM-1,亦为人甲型肝炎病毒细胞受体1)外显子4的两个多态性位点,并检测其是否与中国湖北省汉族儿童过敏性哮喘相关。
采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法检测TIM-1基因的插入/缺失及IVS 8+9 G/A多态性。计算并分析基因型和等位基因频率。
(1)在TIM-1外显子4中鉴定出两个等位基因,即野生型缺失型(del)和变异型插入型(ins)。在汉族健康人群中,ins/ins、ins/del和del/del基因型频率分别为0.065、0.326和0.608。还发现了另一个IVS 8/9 G/A多态性。A/A、G/A、G/G基因型频率分别为0.022、0.196和0.783。(2)在汉族儿童过敏性哮喘人群中,ins/ins、ins/del和del/del基因型频率分别为0.045、0.318和0.636。过敏性哮喘患者与对照组之间在ins/del多态性方面未发现显著差异。还发现了另一个8/9 IVS G/A多态性。在过敏性哮喘中,A/A、G/A和G/G基因型频率分别为0.009、0.209和0.782。过敏性哮喘患者与对照组之间在IVS G/A多态性方面未发现显著差异。
中国湖北省汉族健康人群中TIM-1基因两个多态性位点的基因型和等位基因频率与日本人相似。TIM-1基因的这两个多态性位点与中国儿童过敏性哮喘无关。