中文摘要：

目的研究乳腺癌耐药蛋白（BCRP）单核苷酸多态（SNP）G34A和C421A在华南地区汉族人群中的分布，同时比较不同地区人群间BCRP基因型及等位基因频率分布的差异。方法采用聚合酶链反应一单链构象多态性（PCR—SSCP）方法，检测华南地区无亲缘关系的汉族人群BCRP基因G34A和C421A多态性，结合文献比较不同人群间等位基因频率的差异。结果华南地区人群BCRP基因G34A基因型分布频率为：GG基因型267例（39．03％）、GA基因型328例（47．95％）、AA基因型89例（13．02％）。C421A基因型分布频率为：CC基因型288例（45．79％），CA基因型277例（44．04％），AA基因型64例（10．17％）。其基因型频率在东亚、高加索以及非洲人群中的分布存在显著差异（P〈0．05）。结论BCRP基因在华南汉族人群中存在G34A和C421A多态性，其在不同人群中的分布频率存在显著差异。

英文摘要：

Objective To explore the distribution of breast cancer drug resistance protein （BCRP） single-nucleotide polymorphism （SNP） G34A and C421A in Han population from southern China, compare the genotype and allele frequency among different races. Methods Sequence variations were detected by PCR-SSCP in unrelated cases from southern, genotype and allele distribution differences among different ethnicity were tested by ehi-square test. Results The number and frequency of different genotypes were GG genotype 267 cases （39. 03% ） , GA genotype 328 cases （47. 95% ）, AA genotype 89 cases （13.02%） for G34A, and CC genotype 289 cases （45. 79% ） , CA genotype 277 cases （44. 04% ） , AA genotype 64 cases （ 10. 17% ） for C421A, respectively. There were significant differences in the al- lele frequencies among the east Asian, Caucasian, and African （ P 〈 0. 05 ）. Conclusions Han race population in south China has the BCRP gene polymorphism G34A and C421A. There is significant difference in the allele frequency between different populations.