A Pedigree Investigation of H-antigen Deletion Caused by Mutation of 658 C to T in the FUT1 Gene
Tóm tắt
Từ khóa
Tài liệu tham khảo
Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB (1995) Sequence and expression of a candidate for the human Secretor blood group ɑ(1, 2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem 270:4640–4649
Rouquier S, Lowe JB, Kelly RJ, Fertitta AL, Lennon GG, Giorgi D (1995) Molecular cloning of a human gnomic region containing the H blood group (1,2)-fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human Secretor blood group locus. J Biol Chem 270:4632–4639
Zhu FM, Xv XG, Hong XZ, Yan LX (2004) Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype. Chin J Med Genet 21(3):215–218
Song M, Zhao SM, Jiang TL, Lu H (2018) A very rare case with particular H-deficient phenotypes. Indian J Hematol Blood Transfus 34(4):788–791
Mao W, Wang F, Zhang T, Liu BJ, Liao HM, Li W (2017) Study on the molecular mechanism of Bh para-Bombay phenotype. Chin J Lab Diagn 21(7):1249–1252
Wagner FF, Flegel WA (1997) Polymorphism of the allele and the population frequency of sporadic nonfunctional alleles. Transfusion 37:284–290
Yu LC, Yang YH, Broadberry RE, Chen YH, Lin M (1997) Heterogeneity of the human H blood group ɑ (1,2) fucosyltransferase gene among para-Bombay individuals. Vox Sang 72:36–40
Kaneko M, Nishihara S, Shinya N, Kudo T, Iwasaki H, Seno T, Okubo Y, Narimatsu H (1997) Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme. Blood 90:839–849
Luo GP, Wei L, Wang Z, Luo H, Zhao Y, Zhang RQ, Mo CY, Ji YL (2013) The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China. Transfusion 53:3224–3229
Hong XZ, Ma KZ, Lan XF, Liu Y, Xv XG, Zhu FM, Liu HJ, Yan LX (2011) Sequence analysis of alpha (1, 2) -fucosyltransferase gene for ten individuals with para -Bombay phenotype. Chin J Health Lab Technol 21:604–606
Guo ZH, Xiang D, Zhu ZY, Wang JL, Zhang JM, Liu X, Shen W, Chen HP (2004) Analysis on FUT1 and FUT2 gene of 10 para-Bombay individuals in China. Chin J Med Genet 21:417–421
Chi Q, Zhang A, Ren BC, Guo YJ (2012) Analysis of FUT1 and FUT2 genes in 16 para-Bombay individuals and identification of a novel null FUT1 allele. Chin J Blood Transfus 25:1152–1154
He YM, Xv XG, Zhu FM, Yan LX (2007) Molecular genetic basis for para-Bombay phenotypes in two cases. J Exp Hematol 15(3):626–629
He ZY, Liu FP (2014) Two novel ɑ-1,2-fucosyltransferase alleles in an H-deficient phenotype individual. Transfus Med Hemother 41:375–379
Liang YL, Su YQ, Yu Q, Li DC (2009) To study on genetic characteristic for the para-Bombay phenotype of genetic characteristic in two families that stochastic marriage and intermarriage. J Mod Med Exam 24(3):48–51
Chen FW, Xie HH, Yang XJ, Sun JF, Lin LH, Chen LF, Cai PW (2017) Molecular and genetic mechanism of three cases of para-bombay blood group. J Exp Hematol 25(6):1793–1798
Hong XZ, Xu XG, Zhu FM, Yan LX (2005) Identification of the para-Bombay phenotype ABmh. Chin J Blood Transfus 18(1):8–10
Liao XC, Jiao W, Li HL, Zhu CL, Mo ZN, Yang ZJ (2015) Study on molecular mechanism of para-Bombay phenotype in Guangxi (a family report of two cases). Chin J Blood Transfusion 28(12):1475–1478
Xu XG, Hong XZ, Liu Y, Ying YL, Tao SD, He YM, Zhu FM, Lv HJ, Yan LX (2010) Analysis of alpha-1,2-fucosyltransferase gene mutation in a Chinese family with para-Bombay phenotype. Chin J Med Genet 27(3):250–254