深圳地区儿童Kidd血型Jk(a-b-)表型筛选及分子机理研究
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摘要
目的调查深圳地区人群中Jk(a-b-)表型检出率;探讨深圳地区Jk(a-b-)表型产生的分子机理。方法用尿素溶血实验筛选出Jk(a-b-)表型,采用微柱凝胶法进行Jk(a-b-)表型血清学确认试验,并对Jk(a-b-)表型标本进行DNA提取扩增及纯化测序。结果从20 453儿童标本中筛选出4例Jk(a-b-)表型,检出率为4∶20 453,分布频率为0.019 6。在对其中4名先证者基因分型中,共发现了2种基因型,纯合IVS5-1G>A,杂合IVS5-1G>A合并杂合896G>A。结论深圳地区人群中Jk(a-b-)表型分布频率明显高于国内其它地区,检测到的基因型IVS5-1G>A、杂合IVS5-1G>A合并杂合896G>A是中国人群中最常见的基因变异。
Objective To investigate the frequency and explore the genomic characterization of Jk(a-b-) phenotype in Shenzhen.Methods The Jk(a-b-) phenotype was screened by the urea lysis test.The Jk(a-b-) phenotypes were confirmed by an indirect anti-globulin test(IAT).Additionally,polymerase chain reaction amplification and sequence analysis of the JK gene were performed.Results From 20 453 blood samples,four patients with Jk(a-b-) were selected,at a frequency of 0.019 6.Among these four samples available for sequencing JK gene,a total of two genotypes were discovered:homozygotes of IVS5-1G > A and heterozygotes of IVS5-1G > A combining with heterozygotes of 896 G > A.Conclusion The frequency of Jk(a-b-) in Shenzhen area was higher than the reported data from the populations in other areas of China.The genotype of homozygotes of IVS5-1G > A and heterozygotes of IVS5-1G > A combining with 896 G > A constituted the most common mutation in the Chinese population.
Objective To investigate the frequency and explore the genomic characterization of Jk(a-b-) phenotype in Shenzhen.Methods The Jk(a-b-) phenotype was screened by the urea lysis test.The Jk(a-b-) phenotypes were confirmed by an indirect anti-globulin test(IAT).Additionally,polymerase chain reaction amplification and sequence analysis of the JK gene were performed.Results From 20 453 blood samples,four patients with Jk(a-b-) were selected,at a frequency of 0.019 6.Among these four samples available for sequencing JK gene,a total of two genotypes were discovered:homozygotes of IVS5-1G > A and heterozygotes of IVS5-1G > A combining with heterozygotes of 896 G > A.Conclusion The frequency of Jk(a-b-) in Shenzhen area was higher than the reported data from the populations in other areas of China.The genotype of homozygotes of IVS5-1G > A and heterozygotes of IVS5-1G > A combining with 896 G > A constituted the most common mutation in the Chinese population.
引文
[1]章文,李德发,王红梅.等.某地区儿童kidd血型JK(a-b-)表型的筛选.国际检验杂志,2011,32(17):1942-1945.
[2]邓诗桢,曾玫玫,严康峰,等.番禺地区无偿献血人群中Jk(ab-)表型的筛选与研究.中国输血杂志,2007,20(1):9-12.
[3]Lucien N,Sidoux-Walter F,Olives B,et al.Characterization of the gene encoding the human Kidd blood group/urea transporter protein.Evidence for splice site mutations in the JKnull individuals.J Biol Chem.1998,273(21):12973.
[4]朱发明,许先国,洪小珍,等.Jk(a-b-)表型分子机理的初步研究.中国输血杂志,2003,16(4):245-247.
[5]Lucien N,Chiaroni J,Cartron JP,et al.Partial deletion in the JK locus causing a JKnull phenotype.Blood.2002,99(3):1079.
[6]罗广平,汪传喜,夏文杰,等.稀有抗体抗JK3的发现及JK(ab-),血型家系遗传背景研究.中国输血杂志,2008,21(3):172-174.
[7]Irshaid NM.Henry SM,Olsson ML.Genomic Characterization of the Kidd blood group gene;different molecular basis of the JK(ab-)phenotype in Polynesians and Finns.Transfusion.2000,40(1):69-74.
[8]Sidoux-Walter F,Lucien N,Nissinen R,et al.Molecular heterogeneity of the JKnull phenotype:expression analysis of the JK(S129P)mutation found in Finns.Blood.2000,96(4):1566.
[9]Irshaid NM,Eicher NI,Hustinx H,et al.Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.Br J Haematol.2002,116(2):445.
[10]朱发明.Jk(a-b-)表型分子生物学研究进展.国外医学输血及血液学分册,2003,26(5):424-426.
[11]姬艳丽,魏玲,王贞.广州地区无偿献血者人群中Jk(a-b-)表型筛选及分子遗传学研究.中国输血杂志,2012,25(3):216-219.
[2]邓诗桢,曾玫玫,严康峰,等.番禺地区无偿献血人群中Jk(ab-)表型的筛选与研究.中国输血杂志,2007,20(1):9-12.
[3]Lucien N,Sidoux-Walter F,Olives B,et al.Characterization of the gene encoding the human Kidd blood group/urea transporter protein.Evidence for splice site mutations in the JKnull individuals.J Biol Chem.1998,273(21):12973.
[4]朱发明,许先国,洪小珍,等.Jk(a-b-)表型分子机理的初步研究.中国输血杂志,2003,16(4):245-247.
[5]Lucien N,Chiaroni J,Cartron JP,et al.Partial deletion in the JK locus causing a JKnull phenotype.Blood.2002,99(3):1079.
[6]罗广平,汪传喜,夏文杰,等.稀有抗体抗JK3的发现及JK(ab-),血型家系遗传背景研究.中国输血杂志,2008,21(3):172-174.
[7]Irshaid NM.Henry SM,Olsson ML.Genomic Characterization of the Kidd blood group gene;different molecular basis of the JK(ab-)phenotype in Polynesians and Finns.Transfusion.2000,40(1):69-74.
[8]Sidoux-Walter F,Lucien N,Nissinen R,et al.Molecular heterogeneity of the JKnull phenotype:expression analysis of the JK(S129P)mutation found in Finns.Blood.2000,96(4):1566.
[9]Irshaid NM,Eicher NI,Hustinx H,et al.Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.Br J Haematol.2002,116(2):445.
[10]朱发明.Jk(a-b-)表型分子生物学研究进展.国外医学输血及血液学分册,2003,26(5):424-426.
[11]姬艳丽,魏玲,王贞.广州地区无偿献血者人群中Jk(a-b-)表型筛选及分子遗传学研究.中国输血杂志,2012,25(3):216-219.