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Two distinct alu‐mediated deletions of the human ABO‐secretor (FUT2) locus in Samoan and Bangladeshi populations
Author(s) -
Pang Hao,
Fujitani Noboru,
Soejima Mikiko,
Koda Yoshiro,
Islam Mohammed Nasimul,
Islam A.K.M. Shamsul,
Kimura Hiroshi
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200009)16:3<274::aid-humu20>3.0.co;2-i
Subject(s) - biology , genetics , locus (genetics) , allele , alu element , population , samoan , abo blood group system , gene , human genome , linguistics , philosophy , genome , demography , sociology
The human secretor α(1,2) fucosyltransferase encoded by the FUT2 determines the production of ABO(H) antigens in secretions. Recent studies demonstrated the presence of several nonfunctional alleles in the FUT2 . During the analysis for inactivating mutations at the FUT2 locus from 24 Samoan and 47 Bangladeshi individuals, we found two distinct Alu ‐mediated deletions of FUT2 . The FUT2 deletion in a Bangladeshi population was identical with that found in Indian individuals with the Bombay phenotype ( se del ), but not associated with the null allele (T725G) of the H gene ( FUT1 ). The FUT2 deletion in Samoans is a novel null allele ( se del2 ). The junction region of se del2 was successfully amplified using the same primers for the se del amplification. DNA sequencing of the junction region of the se del2 indicated that there was a 32‐bp sequence identity between DNA sequences surrounding the 5′ and 3′ breakpoints. The size of the deletion of the se del2 was 9.3 kb, including the full coding region of FUT2 . The frequency of the se del in a Bangladeshi population was 0.074, and that of the se del2 in a Samoan population was 0.104. Hum Mutat 16:274, 2000. © 2000 Wiley‐Liss, Inc.