台灣人的抗多藥物蛋白基因之多型性   全文下載

Polymorphisms of the Gene Encoding Multidrug Resistance Protein 1 in Taiwanese

抗多藥物蛋白是去毒作用第三階中最重要蛋白之一。吾等猜測，國人抗多藥物蛋白基因之多型性變異頻率和外國人種可能不同，因此吾等以110位健康台灣成人為對象，採用切割瓷TspR I、Stu I、Hae II、Pst I、Hae III、BseY I、BstZ17 I和Mbo I，以切割片段長度多型性法，檢測基因驅動區上游-41、-145核啟酸和密碼區307、1199、1236、2677、2995和3435核啟酸等8處之變異情形。結果顯示，所有110位成人在基因核啟酸307、1199和2995均為野生型；而在-41、-145、1236、2677和3435等核啟酸之異合子和同合子變異頻率分別為17.3%和0.0%；15.5%和2.7%；50.0%和39.1；56.4%和28.2%；以及45.5%和14.5%。變異情形和外國人已發表的頻率比較，除了核啟酸-41和日本人無差異，以及核啟酸1236和2677和新加坡華人無差異外，其它變異和日本人、新加坡華人、白人、非洲人及大陸華人都有顯著差別。本文結果可看出，國人的抗多藥物蛋白基因之多型性情形和其他人種有別。

Multidrug resistance protein 1 (MDR1) is one of the most important phase-3 proteins for detoxification. We hypothesized that the allele frequencies of polymorphisms in the MDR1 gene in Taiwanese are different from those in other ethnic groups. The polymorphisms of A-41G, C-145G, T307C, G1199A, C1236T, G2677T, G2995A, and C3435T for the MDR1 gene were determined for 110 healthy Taiwanese adults using restriction fragment length polymorphism of PCR product and the enzymes TspR I, Stu I, Hae II, Pst I, Hae III, BseY I, BstZ17 I, and Mbo I. The results showed that all the study subjects carried the wild type at nucleotides 307, 1199, and 2995. The frequencies of the heterozygous and homozygous variations were 17.3% and 0.0%, 15.5% and 2.7%, 50.0% and 39.1%, 56.4% and 28.2%, and 45.5% and 14.5% at nucleotides -41, -145, 1236, 2677, and 3435, respectively. Compared with previous reports, for Taiwanese, the allele frequencies of polymorphisms in the MDR1 gene were significantly different from Japanese, Caucasians, Africans, Chinese living in Singapore, and Chinese living in Mainland China; except for those of -41G (identical to Japanese), 1236T, and 2677T (identical to Chinese living in Singapore). In conclusion, differences in allele frequencies for polymorphisms in the MDR1 gene were observed for Taiwanese in comparison with other ethnic groups and Chinese living in Singapore and Mainland China.