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相关基因多态性片段的研究 被引量：1

Study on RHD-gene associated structure region in Chinese population
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摘要 研究中国人RHD基因相关结构区的特征。采用PCR-SSP技术对随机非血缘关系RhD阳性样本100例,RhD阴性样本228例和Del样本42例的RHD基因的Rhesus盒、启动子区、第4内含子、ψ假基因、第9外显子1227G>A突变点研究。结果:存在RHD基因序列的样本(RHD^+/RHD^+,RHD^+/RHD)可测出启动子区3个多态性位点,有第4外显子者均有第4内含子,所有样本都检查不到RHDψ,34/42例Del样本可检测到1227G>A突变点。中国人RHD基因相关结构区有丰富的遗传背景,其生物学意义和遗传学意义有待进一步探讨。 The characteristics of the RHD-gene associated structure region in Chinese population was studied by means of the PCR-SSP technique on 100 sample of the PhD-positive,228 samples of the PhD-negative and 42 samples of Del individuals of Chinese population. It was demonstrated that three polymorphic loci of promoter region were found in all samples with RHD gene sequence（RHD^＋/RHD^＋ ,RHD^＋/RHD）, in which the samples with exon 4 also possesed intron 4, no RHD pseudogene ψ gene could be detected in all samples, but 1227G〉A mutation could be demonstrated in 34 out of 42 Del samples. It is concluded that the RHD-gene associated structure region exhibit full genetic background, but its significance in biology and genetics should be studied in more detail.
作者 兰炯采 周华友 吴穗元 白旭华 王晓珠
机构地区 南方医科大学南方医院 穗兴有限公司 新疆建设兵团中心血站 秦皇岛血站
出处 《现代免疫学》 CAS CSCD 北大核心 2007年第3期244-247,共4页 Current Immunology
基金 国家自然科学基金(30271208)
关键词 RHD基因 内含子 外显子 假基因(ψ) RHD gene intron exon pseudogene
分类号 R457.11 [医药卫生—治疗学]
  • 相关文献

参考文献9

  • 1兰炯采,周华友,夏荣,曹琼,邢颜超,庞桂芝,吴灿,杨全科.Rhesus盒检测技术[J].中国实验血液学杂志,2005,13(6):1103-1105. 被引量：6
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  • 8兰炯采,王从容,魏亚明,周华友,曹琼,张印则,库热西江,武大林,刘忠.中国汉族Rh血型基因多态性观察[J].中国实验血液学杂志,2003,11(6):642-645. 被引量：22
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二级参考文献13

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共引文献24

同被引文献11

  • 1Hyland CA,Wolter LC ,saul A. Three unrelated RhD gene polymorphisms Identified among blood donors with Rhesus Ccee(r'r) phenotypes. Blood, 1994,84 ( 3 ) :321-324.
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  • 3Okuda H,Kawano M,lwamoto S,et al. The RHD gene is highly detectable In RhD-negative associated haolotypes in the Chinese. Journal of Human Genetics, 2000,45 ( 4 ) : 224 -227.
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  • 5Okuda H, Suganuma H, Tsudo N, et al. Sequence analysis of the spacer regin between the RHD and RHCE genes. Biochem Biophys Res Commun, 1999,263 (2) :378-385.
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  • 9周华友,刘持翔,李晓娟,白旭华,张印则,斯郎则仁,杨贺才,王淑红.汉族、藏族和维吾尔族人群RHD基因启动子区检测[J].中国输血杂志,2011,24(8):665-668. 被引量：3
  • 10兰炯采,陈强,孙倩,武大林,丁红,张志梅,彭道波.RhD基因外显子多态性观察[J].中国免疫学杂志,2000,16(5):284-285. 被引量：14

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现代免疫学
2007年 第3期

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