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湖南省RhD阴性献血者D基因多态性研究

Study on RHD Gene Polymorphism Among RhD-negative Blood Donors in Hunan
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摘要 目的血清学方法研究湖南省133名Rh阴性献血者RHD基因多态性的分布以及RHD基因组结构与血清学的关系。方法应用PCR-SSP技术检测湖南省133名Rh阴性献血者的RHD基因的第2、3、4、5、6、7、9、10外显子、1227A等位基因和RHCE基因的第1、2及5外显子,并分别检测二者的第4内显子。并对部分样本进行吸收放散实验。结果133例Rh阴性个体中,ccee表型69例、Ccee57例、CCee4例、CcEe3例、ccEe1例;133例Rh阴性个体中85例RHD基因所检测的8个外显子完全缺失(63.9%)、24例完整(18.05%)、16例部分缺失(12.03%)。吸收放散试验检测出24例RhD放散型。结论湖南省Rh阴性人群的RHD基因结构呈现多态性,常规血清学鉴定的RhD阴性者中存在较高比例的RhD放散型(Del型),且部分带有完整的RHD基因。携带D基因的吸收放散试验阴性个体中具有C抗原者比例较高,但亦有cc表型存在。提示在中国用RHD基因分型完全替代血清学检测RhD表型条件尚不成熟,仍需二者结合以提高检测的准确性。 Objective To evaluate the distribution of RHD specific exons in 133 blood donors in Hunan Province who were classified as RhD - negative by serological methods, and to explore the association between the genomic structure and serological results. Methods The polymerase chain reaction usingsequence specific primers (PCR - SSP) was used to amplify exons 2, 3, 4, 5, 6, 7, 9 and 10 of RHD gene, allele 1227A and exons 1, 2 and 5 of RHCE gene, as well as intron 4 in each of them. Absorption - elution tests were done in a part of the samples. Results The 133 cases of RhD - negative phenotypes consisted of 69 ccee, 57 Ccee, 4 COee, 3 CcEe, and 1 ccEe. Among them, 85 cases lacked the eight RHD ex- ons indicated above (63.9), 24 cases had all the RHD exons examined (18.05 % ), while 16 individuals carried at least one RHD exon ( 12.03 % ). 24 samples were Del phenotype by the absorption - elution tests. Conclusions Polymorphisms of Rh - negative individuals in Hunan population were observed. Del phenotypes were highly detected among the apparently RhD - negative individuals and Del cases had the possibility of carrying the intact RHD gene. The RhD - negative individuals car- ried RHD gene were mainly found the RHC phenotype while Rhc phenotypes among the RhD - negative cases were also found. So it is necessary to combine serological study with gene phenotyping before DNA- based RhD genotyping is performed.
作者 刘业英
出处 《实用预防医学》 CAS 2009年第3期696-699,共4页 Practical Preventive Medicine
关键词 RH阴性 RHD基因 基因多态性 Rh negative RHD gene Polymorphism
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参考文献20

  • 1EliAvent ND, Reid ME. The Rh blood group system 1 a review[J ]. Blood,2000,95(2) :375 - 387.
  • 2Okuda H, Suganuma H, Tsudo N, et al. Sequence analysis of the spacer region between the RHD and RHCE genes [ J ]. Biochem Biophys Res Commun,1999,263(2):378 - 380.
  • 3Okuda H, Kawano M, 1 wamoto S, et al. The RHD gene is highly detectable in RhD - negative Japanese donors[J]. J Clin Invest, 1997,100(2) : 373 - 379.
  • 4徐群,张世训,张建业,司桂玲,宋永红,王玫,李京,王潍,聂向民.中国汉族群体RhD阴性个体D基因外显子多态性研究[J].中华医学遗传学杂志,2001,18(1):39-42. 被引量:23
  • 5Daniels G. Human blood groups[ M ]. Oxford: Blackwell Science, 1995. 265 - 279.
  • 6Zhao TM. Human blood group genetics [ M ]. Beijing: Science Press, 1987. 103 - 104.
  • 7Lan JC,Chen Q,Wu DL,et al. Genetic polymorphism of RhD- negative associated haplotypes in the Chinese[ J ]. J Hum Genet, 2000,45 (4) : 224-227.
  • 8Shao CP, Maas JH, Su YQ, et al. Molecular background of Rh D - positive, D- negative, D and weak D phenotypes in Chinese[ J ]. Vox Sang, 2002,83(z) :156 - 161.
  • 9Avent ND, M artln PG, Armstrong - Fisher SS, et al. Evidence of genetic diversity underlying RhD,weak D and partial D phenotypes as determined by multiplex polymerase chain reaction analysis of the RHD gene [J ]. Blood, 1997,89(7) :2568 - 2577.
  • 10Chen JC, IJin TM, Chen YL, et al. RHD 1227A is an important genetic marker for RhDel individuals [ J ]. Am J Clin Pathol, 2004,122 : 193 - 198.

二级参考文献34

  • 1徐群,张世训,张建业,司桂玲,宋永红,王玫,李京,王潍,聂向民.中国汉族人群RHCE和RHD基因结构研究[J].临床输血与检验,2000,2(1):1-4. 被引量:5
  • 2[1]Colin Y, Cherif-Zahar B, LeVan Kim C, et al. Genetic basis of the Rh D-positive and Rh D-negative blood group polymorphism as determined by Southern analysis, Blood, 1991; 78:2747-2752
  • 3[2]Avent ND. Molecular biology of the Rh blood group system. J Pediatr Hematol Oncol, 2001; 23:394-402
  • 4[3]Wagner FF, Flegel WA. Rh D gene deletion occurred in the Rhesus box. Blood, 2000; 95:3662-3668
  • 5[4]Cartron JP. Defining the Rh blood group antigens. Biochemistry and molecular genetics. Blood Rev, 1994; 8:199-212
  • 6[5]Stoerker J, Hurwitz C, Rose NC, et al. Heteroduplex generator in analysis of Rh blood group alleles. Clin Chem, 1996; 42:356-360
  • 7[6]Okuda H, Kawano M, lwamoto S, et al. The Rh D gene is highly detectable in Rh D-negative Japanese donors. J Clin Invest, 1997;100:373-379
  • 8[8]Lan JC, Chen Q, Wu DL, et al, Genetic polymorphism of Rh Dnegative associated haplotypes in the Chinese. J Hum Genet, 2000;45:224-227
  • 9[9]Singleton BK, Green CA, Avent ND, et al. The presence of an Rh D pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype.Blood, 2000; 95:12-18
  • 10[10]von-Kiparski S, Northoff H, Flegel WA, et al. Rh blood group antigens-update. Clin Lab, 2000; 46:17-22

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