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类孟买型的FUT1和FUT2等位基因突变的分析 被引量：19

Mutational analysis of FUT1 and FUT2 genes in para-Bombay individuals
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摘要 目的分析类孟买型个体的FUT1和FUT2位点基因突变的分子生物学基础。方法采用PCR扩增产物直接测序法,对2例类孟买型个体的FUT1和FUT2位点的等位基因进行序列检测。结果1例类孟买型个体FUT1位点547～552位的3个重复连续的AG中缺失1个AG,使得氨基酸序列发生182框码移位;另1例FUT1位点880～882位3个重复连续的T中缺失2个T,使得氨基酸序列发生294框码移位,而2例类孟买型的FUT2位点均为正常野生型。结论FUT1位点的移码突变是导致H抗原缺乏,形成类孟买型的原因之一。 Objective To study the mutation of FUT1 and FUT2 genes in para-Bombay individual.Methods Direct DNA sequencing of FUT1 and FUT2 gene coding region were analyzed in two individuals with para-Bombay phenotype.Results One individual lost one of the three AG repeats located at nucleotides 547~552 of the FUT1 gene, whereas two of the three T repeats located at nucleotides 880~882 were deleted in the other.Conclusion Two frame-shift mutations of FUT1 gene are responsible for the H antigen deficiency
作者 苏宇清 吴国光 魏天莉 喻琼 梁延连 黄文华
机构地区 深圳市输血医学研究所 福州市中心血站
出处 《中国输血杂志》 CAS CSCD 2005年第3期192-193,共2页 Chinese Journal of Blood Transfusion
关键词 血型/类孟买型 FUT1 FUT2 移码突变 测序 Para-Bombay FUT1 gene FUT2 gene Frame-shift mutation
分类号 R457.11 [医药卫生—治疗学] Q754 [生物学—分子生物学]
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参考文献5

  • 1Yu L, Yang YH, Broadberry RE, Lin M:: Heterogeneity of the human H blood group (1,2)fuscoyhransferase gene among paraBombay individuals. Vox Sang, 1997,72(1) : 36.
  • 2Yip SP, Chee KY,Chan PY, et al. Molecular genetic analysis of para-Bombay phenotypes in Chinese: a novel non-functional FUT1 allele is identified. Vox Sang,2002,83(3):258.
  • 3Fernandez-Mateos P, Cailleau A , Henry S, et al. Point Mutations and Deletion Responsible for the Bombay H null and the Reunion H weak Blood Groups Vox Sang,1998,75(1):37.
  • 4苏宇清,吴国光,魏天莉,李大成,喻琼,梁延连.中国汉族人FUT2基因点突变初步研究[J].中国输血杂志,2003,16(4):239-241. 被引量：21
  • 5Oriol R,Candelier JJ,Mollicone R,et al. Molecular genetics of H.Vox Sang, 2000,78(Suppl 2):105.

二级参考文献8

  • 1Koda Y,Tachida H,Pang H,et al. Contrasting patterns of polymorphisms at the ABO-secretor gene(FUT2) and plasma α(1,3)-Fucosyl transferase gene (FUT6) in human populations. Genetics,2001,158(2) :747.
  • 2Kelly RJ, Rouquir S, Giorg D, et al. Sequence and expression of a candidate for the htnnan secretor blood group a(1,2)Fucosyl transferase gene (FUT2). Homozygosity for an enzyme inactivating nonsense mutation commonly correlates with the non-secretor phenotype. J Biol Chem, 1995,270 (9) :4640.
  • 3Rouquir S, Lowe JB ,Kelly RJ,et al. Molecular cloning of a human genomic region containing the H blood group a( 1,2 )Fucosyl transferase gene and two H locus-related DNA restriction fragments. J Biol Chem, 1995,270(9) :4632.
  • 4Koda Y, Soejima M,Liu Y,et al. Molecular basis for secretor type α(1,2)Fucosyl transferase gene deficiency in a Japanese population:A fusion gene generated by unequal crossover responsible for the enzyme deficiency. Am J Hum Genet, 1996,59(2) :343.
  • 5Pang H,Koda Y,Sojima M,et al. Polymorphism of the ABO-secretor locus (FUT2) in four population in Asia: indication of distinct Asian subpopulatioas. Hum Genet,2001,65(Pt 5) :429.
  • 6Chang JG,Yang TY,Liu TC, et al .Molecular analysis of secretor type α(1,2)Fucosyl transferase gene mutations in the Chinese and Thai populations. Transfusion 1999,39(9) : 1013.
  • 7Yu LC,Yang YH,Broadberry RE ,et al. Correlation of a missence mutation in the human secretor α1,2Fucosyl transferase gene with the Lewis(a + b+ ) phenotype:a potential molecular basis for weak secretor allele(Se^w) . Biochem J, 1995,312 (Pt2) : 329.
  • 8Henry S, Mollicone R, Fernandez P, et al.Homozygous expression of a missense mutation at nucleotide 385 in the FUT2 gene associates with the Le(a+ b+ )partial-secretor phenotype in an Indonesian family. Biochemical and Biophysical. Research Communications, 1996,219(3) :675.

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中国输血杂志
2005年 第3期

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