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1例类孟买型家系的分子遗传学研究 被引量:5

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摘要 目的分析攀枝花地区1例类孟买型家系的分子遗传学基础。方法采用PCR扩增产物直接测序法,对1例类孟买型家系的FUT1基因编码序列进行序列检测。结果该先证者的FUT1基因有1处纯合突变,第547-552位的3个重复连续的AG中缺失1个AG;其父母FUT1基因则含有第547-552位AG缺失的杂合突变。结论 FUT1基因第547-552位AG缺失使阅读框架发生移码,提前在804-806位核苷酸形成终止密码,导致H抗原缺乏,是形成类孟买型的机制之一。
出处 《中国输血杂志》 CAS CSCD 北大核心 2013年第5期448-449,共2页 Chinese Journal of Blood Transfusion
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  • 1Yu LC, Yang YH, Broadherry RE, et al. Heterogeneity of the human H blood group alpha (1 , 2) fucosyltransferase gene among paraBombay individuals. Vox Sang, 1997, 72(1) :3640.
  • 2田力,宋宁,姚志强,邓永福,罗玫,陈静娴,陈强,杨刘.Am新等位基因分子遗传背景的研究[J].中国输血杂志,2010,23(7):524-526. 被引量:12
  • 3和艳敏,许先国,朱发明,严力行.2例类孟买表型的分子机理研究[J].中国实验血液学杂志,2007,15(3):626-629. 被引量:18
  • 4Cai XH,Fang CJ,Jin S,et al. H blood-group deficiency has a high frequency in Lahu Chinese. Blood Transfus. 2011 ,9 (4) :466-468.
  • 5Kaneko M, Nishihara S, Shinya N, et al. Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme. Blood. 1997 ,90(2) :839-849.
  • 6Storry JR, Johannesson JS, Poole J, et al. Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para-Bombay phenotypes. Transfusion. 2006,46 (12) :2149-2155.
  • 7Xu X, Tao S, Ying Y , et al. A novel FUTI allele was identified in a Chinese individual with para-Bombay phenotype. Transfus Med, 2011,21 (6) :385-393.
  • 8Cai XH, Jin S, Liu X, et al. Molecular genetic analysis for the paraBombay blood group revealing two novel alleles in the FUTl gene. Transfus Med. 2011,21 (3) :209-210.
  • 9郭忠慧,向东,朱自严,王健莲,张嘉敏,刘曦,沈伟,陈和平.中国类孟买血型FUT1和FUT2基因研究[J].中华医学遗传学杂志,2004,21(5):417-421. 被引量:64
  • 10苏宇清,吴国光,魏天莉,喻琼,梁延连,黄文华.类孟买型的FUT1和FUT2等位基因突变的分析[J].中国输血杂志,2005,18(3):192-193. 被引量:19

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  • 1李勇,马学严.实用血液免疫学[M].北京:科学出版社,2006.
  • 2胡利华.临床输血学检验.3版.北京:人民卫生出版社,2012:18-22.
  • 3叶应妩,王毓三,申子瑜.全国临床检验操作规程.3版.南京:东南大学出版社,2009:254-257.
  • 4杰夫·丹尼尔.人类血型.朱自严,主译.1版.北京:科学出版社,2002:14-20.
  • 5Kelly RJ,Ernst LK,Larserl RD,et d. Mo.ecl basis for H blood group deficiency in Bombay (Oh) and para -Bombay individuals. Proc Nat] Aead Sei USA,1994,91(13) : 5843-5847.
  • 6Kaneko bl,Nishihara S,Shinya N,et M. Wide variety of point mu- tations in the H gene of Bombay and para -Bombay individuals that inactivate H enzyme. Blood,1997,90(2) : 839 - 849.
  • 7Kelly R J, Ernst LK, Larsen RD, et al. Molecular basis for H blood group deficiency in Bombay ( Oh ) and para - Bombay individuals [J]. Proe Natl Aead Sci USA, 1994, 91(13) : 5843 -5847.
  • 8Kaneko M, Nishihara S, Shinya N, et al. Wide variety of point mutations in the H gene of Bombay and para - Bombay individuals that inactivate H enzyme[J]. Blood, 1997, 90(2) : 839 -849.
  • 9Yah LX, Zhu FM, Xu XG, et al. Molecular basis for para - Bom- bay phenotypes in Chinese persons, including a novel nonfunctional FUT1 allele[J]. Transfusion, 2005, 45(5): 725 -730.
  • 10Blumenfeld OO, Patnaik SK. Allelic genes of blood group antigens : a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database[J]. Hum Mutat, 2004, 23 (1): 8-16.

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