15例ABO疑难血型基因检测分析
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摘要
目的利用ABO血型基因分型技术辅助疑难血型的鉴定。方法收集2016年4月至2018年6月北京医院15例血型正反定型不符患者的外周静脉血样,应用血型血清学方法结合聚合酶链反应-特异性序列引物(polymerasechain reaction-sequence specific primer, PCR-SSP)法进行ABO基因分型,并对其中7例做基因测序确定基因型。结果15例疑难血型的ABO基因分布为1例A/B、1例A/O2、3例B1/O01、1例Bel09/O02、1例CisAB01/O2、1例Bw12/O01、1例A102/Bw12、1例B(A)04/O2、1例B(A)02/B、2例Bel03/O、1例Ael05/O;1例为新基因,测序结果为797位置发生突变,根据其他位点的突变具有A102/O01特点。结论 ABO血型基因分型技术结合血清学定型可用于疑难血型的准确定型。
Objective To identify the ambiguous blood group by ABO blood group genotyping technology. Methods A total of 15 peripheral venous blood samples with blurred forward-reverse typing were collected in Beijing Hospital from April 2016 to June 2018. ABO genotypes were determined by blood group serological method combined with polymerase chain reaction-sequence specific primer(PCR-SSP) methods, and seven of them were genotyped by DNA sequencing. Results In the 15 cases, one was A/B, one was A/O2, three were B1/O01, one was Bel09/O02, one was CisAB01/O2, one was Bw12/O01, one was A102/Bw12, one was B(A)04/O2, one was B(A)02/B, two were Bel03/O, one was Ael05/O, one was new genes(sequencing results was 797 insT, according to the mutation of other loci with A102/O01 characteristics). Conclusions ABO blood group genotyping technology combined with serological typing can be used for accurate typing of ambiguous blood group.
Objective To identify the ambiguous blood group by ABO blood group genotyping technology. Methods A total of 15 peripheral venous blood samples with blurred forward-reverse typing were collected in Beijing Hospital from April 2016 to June 2018. ABO genotypes were determined by blood group serological method combined with polymerase chain reaction-sequence specific primer(PCR-SSP) methods, and seven of them were genotyped by DNA sequencing. Results In the 15 cases, one was A/B, one was A/O2, three were B1/O01, one was Bel09/O02, one was CisAB01/O2, one was Bw12/O01, one was A102/Bw12, one was B(A)04/O2, one was B(A)02/B, two were Bel03/O, one was Ael05/O, one was new genes(sequencing results was 797 insT, according to the mutation of other loci with A102/O01 characteristics). Conclusions ABO blood group genotyping technology combined with serological typing can be used for accurate typing of ambiguous blood group.
引文
[1]刘达庄.免疫血液学[M].上海:科学技术出版社, 2002:194-222.
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[3]李勇,马学严.实用血液免疫学:血型理论和实验技术[M].北京:科学出版社, 2006:642-645.
[4] Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT:NCBI dbRBC da-tabase of allelic variations of genes encoding antigens of blood groupsystems[J]. Nucleic Acids Res, 2012, 40:D1023-D1029.
[5] Hajizadeh R, Kavandi H, Nadiri M, et al. Association of ABO bloodgroup with incidence and outcome of acute pulmonary embolism[J].Turk Kardiyol Dern Ars, 2016, 44:397-403.
[6]张文静. ABO组织血型抗原与肿瘤疾病相关性的研究进展[J].国际输血及血液学杂志, 2014, 37:69-73.
[7] Daniels G. Human blood groups[M]. 2nd ed. Oxford:Blaekwell Sci-ence Ltd, 2002:36-39.
[8]张烨,庄光艳,刘素芳,等. B(A)血型的血清学和分子生物学定型及患者临床输血策略研究[J].北京医学, 2015, 37:795-797.
[9]向东. ABO亚型的检测[J].中国输血杂志, 2010, 23:577-579.
[10]张嵘,苏品璨,田力,等.昆明地区无偿献血者ABO亚型的分子遗传学分析[J].中国输血杂志, 2012, 25:219-223.
[11] Olsson ML, Irshaid NM, Hosseini-maaf B, et al. Genomic analysis ofclinical samples with serologic ABO blood grouping discrepancies:identification of 15 novel A and B subgroup alleles[J]. Blood, 2001,98:1585-1593.
[12]孟庆丽,高勇,陈玫,等. ABO基因278C>T突变导致Bw12一例[J].中华医学遗传学杂志, 2012, 29:482-484.
[13]李归冀,章旭.两例ABO变异型Bw亚型的分子遗传学分析[J].中华医学遗传学杂志, 2013, 30:733-735.
[14]赵桐茂.基因分型预测ABO亚型的局限性[J].临床输血与检验,2018, 20:113-116.
[2]杰夫·丹尼尔.人类血型[M].北京:科学出版社, 2007:27-48.
[3]李勇,马学严.实用血液免疫学:血型理论和实验技术[M].北京:科学出版社, 2006:642-645.
[4] Patnaik SK, Helmberg W, Blumenfeld OO. BGMUT:NCBI dbRBC da-tabase of allelic variations of genes encoding antigens of blood groupsystems[J]. Nucleic Acids Res, 2012, 40:D1023-D1029.
[5] Hajizadeh R, Kavandi H, Nadiri M, et al. Association of ABO bloodgroup with incidence and outcome of acute pulmonary embolism[J].Turk Kardiyol Dern Ars, 2016, 44:397-403.
[6]张文静. ABO组织血型抗原与肿瘤疾病相关性的研究进展[J].国际输血及血液学杂志, 2014, 37:69-73.
[7] Daniels G. Human blood groups[M]. 2nd ed. Oxford:Blaekwell Sci-ence Ltd, 2002:36-39.
[8]张烨,庄光艳,刘素芳,等. B(A)血型的血清学和分子生物学定型及患者临床输血策略研究[J].北京医学, 2015, 37:795-797.
[9]向东. ABO亚型的检测[J].中国输血杂志, 2010, 23:577-579.
[10]张嵘,苏品璨,田力,等.昆明地区无偿献血者ABO亚型的分子遗传学分析[J].中国输血杂志, 2012, 25:219-223.
[11] Olsson ML, Irshaid NM, Hosseini-maaf B, et al. Genomic analysis ofclinical samples with serologic ABO blood grouping discrepancies:identification of 15 novel A and B subgroup alleles[J]. Blood, 2001,98:1585-1593.
[12]孟庆丽,高勇,陈玫,等. ABO基因278C>T突变导致Bw12一例[J].中华医学遗传学杂志, 2012, 29:482-484.
[13]李归冀,章旭.两例ABO变异型Bw亚型的分子遗传学分析[J].中华医学遗传学杂志, 2013, 30:733-735.
[14]赵桐茂.基因分型预测ABO亚型的局限性[J].临床输血与检验,2018, 20:113-116.