本研究分析汉族人群tap1和tap2基因座等位基因和基因型频率的分布及意义。运用TaqManPCR分型技术调查339例中国健康汉族人群随机样本tap1(transporter associated with antigen processing)和tap2基因座等位基因频率和基因型频率分布,...本研究分析汉族人群tap1和tap2基因座等位基因和基因型频率的分布及意义。运用TaqManPCR分型技术调查339例中国健康汉族人群随机样本tap1(transporter associated with antigen processing)和tap2基因座等位基因频率和基因型频率分布,并计算个体鉴别力、累积鉴别力、多态性信息含量、无偏倚期望杂合性、观察杂合性等遗传参数。结果表明:共有5种tap1等位基因(tap1*0101、020101、020102、0301和0401)和4种tap2等位基因(tap2*0101、0102、0103和0201)被检出,tap1实际检出基因型8种,占理论基因型的53.3%,tap2实际检出基因型6种,占理论基因型60%。Tap1和tap2基因型分型结果符合Hardy-Weinberg定律(p>0.05)。Tap1*0101(79.79%)和tap2*0101(82.74%)在中国汉族人群中分布最广。结论:Tap1*0101和tap2*0101在汉族人群中分布最广。Tap1和tap2基因座具有一定的信息量和个体鉴别能力,可用于人类遗传学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。展开更多
Background: Polymorphisms of TAP1 gene might be pertinent in development of cancer by altering the immune response. We studied the association of TAP1 gene polymorphism with HPV related oropharyngeal cancer. Methods: ...Background: Polymorphisms of TAP1 gene might be pertinent in development of cancer by altering the immune response. We studied the association of TAP1 gene polymorphism with HPV related oropharyngeal cancer. Methods: This prospective study consisted of 200 subjects divided into three groups;Group A—HPV positive oropharyngeal cancer (17/100), Group B—HPV negative oropharyngeal cancer (83/100) and Group C—Controls. TAP1ile333val polymorphism genotyping was performed by ARMS-PCR. Results: No significant difference was observed in the distribution of Val/Val genotype of Group A in comparison to Group C (OR = 0.663, 95% CI = 0.164 - 2.688, p = 0.742) and Group B (OR = 1.725, 95% CI = 0.388 - 7.675, p = 0.677) and thus was not associated with HPV associated cancer. But the frequency of Val/Val genotype was found to be significantly decreased in Group B as compared to controls and was linked with increased risk of oropharyngeal cancers (OR = 0.38, 95% CI = 0.15 - 0.97, p = 0.048). Conclusion: TAP1i333v gene polymorphism was not associated with HPV positive oropharyngeal cancer;however decreased frequency of Val/Val genotype raises the risk of oropharyngeal cancer.展开更多
文摘本研究分析汉族人群tap1和tap2基因座等位基因和基因型频率的分布及意义。运用TaqManPCR分型技术调查339例中国健康汉族人群随机样本tap1(transporter associated with antigen processing)和tap2基因座等位基因频率和基因型频率分布,并计算个体鉴别力、累积鉴别力、多态性信息含量、无偏倚期望杂合性、观察杂合性等遗传参数。结果表明:共有5种tap1等位基因(tap1*0101、020101、020102、0301和0401)和4种tap2等位基因(tap2*0101、0102、0103和0201)被检出,tap1实际检出基因型8种,占理论基因型的53.3%,tap2实际检出基因型6种,占理论基因型60%。Tap1和tap2基因型分型结果符合Hardy-Weinberg定律(p>0.05)。Tap1*0101(79.79%)和tap2*0101(82.74%)在中国汉族人群中分布最广。结论:Tap1*0101和tap2*0101在汉族人群中分布最广。Tap1和tap2基因座具有一定的信息量和个体鉴别能力,可用于人类遗传学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。
文摘Background: Polymorphisms of TAP1 gene might be pertinent in development of cancer by altering the immune response. We studied the association of TAP1 gene polymorphism with HPV related oropharyngeal cancer. Methods: This prospective study consisted of 200 subjects divided into three groups;Group A—HPV positive oropharyngeal cancer (17/100), Group B—HPV negative oropharyngeal cancer (83/100) and Group C—Controls. TAP1ile333val polymorphism genotyping was performed by ARMS-PCR. Results: No significant difference was observed in the distribution of Val/Val genotype of Group A in comparison to Group C (OR = 0.663, 95% CI = 0.164 - 2.688, p = 0.742) and Group B (OR = 1.725, 95% CI = 0.388 - 7.675, p = 0.677) and thus was not associated with HPV associated cancer. But the frequency of Val/Val genotype was found to be significantly decreased in Group B as compared to controls and was linked with increased risk of oropharyngeal cancers (OR = 0.38, 95% CI = 0.15 - 0.97, p = 0.048). Conclusion: TAP1i333v gene polymorphism was not associated with HPV positive oropharyngeal cancer;however decreased frequency of Val/Val genotype raises the risk of oropharyngeal cancer.
