自然等位变异的乳腺癌耐药蛋白(BCRP)和他们的关系在人类肠道BCRP的表达。
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K Zamber CP、兰JK Yasuda Farnum J, K Thummel, Schuetz JD, Schuetz如
自然等位变异的乳腺癌耐药蛋白(BCRP)和他们的关系在人类肠道BCRP的表达。
药物基因学。2003年1月,13 (1):19-28。
- PubMed ID
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12544509 (在PubMed]
- 文摘
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本研究的目的是确定遗传变异的程度在人类乳腺癌耐药蛋白(BCRP)。我们首先分析了BCRP cDNA序列从人类肝脏和人类肠道肠道BCRP的表达的表型。然后我们确定所有已知的频率编码单核苷酸多态性DNA (cSNPs)使用11个不同种族人群的个体。9个snp包括四个非同义和三个cSNPs和两个intronic同义snp。错义突变的外显子2 SNP (G34A)导致V12M变化;外显子5 SNP (C421A)导致Q141K替换;外显子6 SNP (A616C)导致了I206L氨基酸替换;15和外显子的SNP (A1768T)导致N590Y BCRP蛋白质的变化。人口中标识的两个最频繁的多态性研究G34A和C421A转换。有很显著的不同BCRP基因型和等位基因频率在不同的人群。 BCRP mRNA was phenotyped in human small bowel intestinal samples by real-time polymerase chain reaction and BCRP protein was analysed on immunoblots of tissue from the same individuals. There was a 78-fold variation in expression of BCRP mRNA and significant variation in BCRP protein expression in human intestine. Expression of intestinal BCRP mRNA and protein was not different between persons expressing the common Gln141 allele compared to the Lys141 allele. Thus, common natural allelic variants of BCRP have been identified, and did not influence interindividual variation in expression of BCRP mRNA in human intestine, but remain to be tested for their effect on BCRP function.