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目的建立简便快速的PCR方法检测中国汉族健康人群中乳腺癌耐药蛋白(breast cancer resistance protein,BCRP)主要SNP的分布频率。方法对262名中国健康汉族志愿者进行BCRP基因分型,建立PCR限制性内切酶方法测定志愿者BCRPC376T基因型,建立位点特异PCR方法检测定BCRP G34A、BCRP C421A基因型。结果 BCRP G34A、C376T、C421A基因型在中国汉族健康人群中的分布频率分别为28.6%、1.4%、32.1%,分布符合Hardy-Weinberg平衡。结论以上3个BCRPSNPs在中国汉族健康人群中均检测到,且BCRP G34A、C421A分布频率较高。
Objective To establish a simple and rapid PCR method to detect the distribution frequency of major SNPs in breast cancer resistance protein (BCRP) in Chinese Han healthy population. Methods BCRP genotyping was performed in 262 healthy Chinese Han volunteers. The genotypes of BCRPC376T in volunteers were determined by PCR restriction endonuclease assay. The genotypes of BCRP G34A and BCRP C421A were determined by site - specific PCR. Results The distribution frequencies of BCRP G34A, C376T and C421A genotypes were 28.6%, 1.4% and 32.1% respectively in healthy Chinese Han population, and their distributions were in accordance with Hardy-Weinberg equilibrium. Conclusion All the above 3 BCRPSNPs were detected in healthy Chinese Han population, and the distribution frequencies of BCRP G34A and C421A were higher.