中国北方汉族人细胞色素P450 1A1基因MspⅠ多态性与早发性帕金森病关系的研究

Relationship of vitamin D receptor polymorphism with breast cancer

目的 探讨中国北方汉族人细胞色素 P45 0 1A1基因 Msp 多态性与早发性帕金森病的易感性的关系。方法 用聚合酶链反应 -限制性片段长度多态性技术 ,分析了 12 6例早发性帕金森病患者 (发病年龄 <5 0岁 )和 172名正常健康成人 CYP1A1基因 3′端限制性内切酶 Msp 位点的 3种基因型 (A、B、C)的分布频率。结果 Msp 基因型 C在病例组和对照组中各占 15 .1%和 13.4% ,基因型 A在两组中分别占 41.3%和 34 .9% ,基因型 B在两组中分别占 43.6 %和 5 1.7% ,各基因型在两组中相比较 ,差异无显著性 (P>0 .0 5 )。C基因型在病例组和对照组分别占 36 .9%和 39.2 % ,两者差异无显著性 (P>0 .0 5 )。结论提示解毒酶 CYP1A1基因 Msp

Objective To detect the association between vitamin D receptor polymorphism and breast cancer. Methods Polymerase chain reaction restriction fragment length polymorphism(PCR RFLP) method was used. Two restriction fragment length polymorphisms in the 3′ region of vitamin D receptor (VDR) gene, Taq Ⅰ and Apa Ⅰ, were tested for association with breast cancer risk in 86 females with breast cancer and 134 healthy female controls. Results Allele frequencies of the 3′ Taq Ⅰ polymorphism showed a significant association ( P =0 0004,OR:5 39,CI:1 81 17 20). The further study of genotype found the association of Tt, tt with breast cancer. The haplotype analysis of Apa Ⅰ and Taq Ⅰ showed a linkage disequilibrium between t allele and A allele. The frequency of tA haplotype was higher in breast cancer patients than in controls ( P =0 001), indicating that tA haplotype is associated with breast cancer. The alleles and haplotype of the two loci had not any difference among the clinical subgroups. Conclusion There is association between vitamin D receptor polymorphism and breast cancer.