https://scholars.lib.ntu.edu.tw/handle/123456789/143412
標題: | Heterogeneity of the HumanSecretorα(1,2)Fucosyltransferase Gene among Lewis(a+b−) Non-secretors | 作者: | Yu, Lung-Chih Broadberry, Richard E. Yang, Yun-Hsin Chen, Yee-Hsiung Lin, Marie |
公開日期: | 1996 | 卷: | 222 | 期: | 2 | 起(迄)頁: | 390-394 | 來源出版物: | Biochemical and Biophysical Research Communications | 摘要: | The human Secretor α(1,2)fucosyltransferase gene determines the ABH secretor status and influences the Lewis phenotype of an individual. Two different se alleles with point mutations, C571 to T and G849 to A respectively, in the coding region were identified in Le(a+b-) non-secretors from one of the Taiwanese indigenous groups. The base substitutions predict the alteration of Arg191 and Trp283 to stop codons respectively, resulting in deletion of the Secretor enzyme's C-terminal segment. Both alleles of the Secretor locus in all Le(a+b-) non-secretors, but not in Le(a-b+) secretors, were further demonstrated to be either one of these two se alleles with nonsense mutations. These results suggest two new molecular bases for the null se allele responsible for the formation of the non-secretor phenotype. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/162989 https://www.scopus.com/inward/record.uri?eid=2-s2.0-0030585360&doi=10.1006%2fbbrc.1996.0754&partnerID=40&md5=d74af750481cf17f655e6ce68b651a12 |
ISSN: | 0006291X | SDG/關鍵字: | fucosyltransferase; article; blood group ABO system; blood group Lewis system; carboxy terminal sequence; controlled study; DNA polymorphism; human; nucleic acid base substitution; phenotype; point mutation; priority journal; stop codon |
顯示於: | 生化科學研究所 |
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