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[中国汉族Rh血型基因多态性观察]

[Observation on gene polymorphism of Rh blood group in Chinese Han nationality].

作者信息

Lan Jiong-Cai, Wang Cong-Rong, Wei Ya-Ming, Zhou Hua-You, Cao Qiong, Zhang Yin-Ze, Jiang KuReXi, Wu Da-Lin, Liu Zhong

机构信息

Department of Blood Transfusion, Nanfang Hospital, The First Military Medical University, Guangzhou 510515, China. DDiD21CN.com

出版信息

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2003 Dec;11(6):642-5.

Abstract

To observe the gene polymorphism of Rh blood group in unrelated random individuals and families for Chinese Han nationality, polymerase chain reaction-sequence specific primer (PCR-SSP) was used to amplify the Rh C/E gene, RhD gene, exons, intron 2 and 10, insert and Rh Box in 160 blood samples of RhD positive unrelated individuals and 71 samples of RhD negative unrelated individuals and 7 samples of families whose probands were RhD-negative. The results showed that RhD genes of RhD-negative individuals with C antigens were polymorphism, three forms were found for D exon including intact, partial deletion and complete deletion exons. Insert fragments and Rh Box were found in most cases of families whose probands were RhD-negative and its inheritance accorded with the Mendel's Law, and it did not affect the expression of RhD gene. "Normal" RhD exon 4 amplifying product was not found in all of the samples. It was concluded that gene structure of the RhD-negative in Chinese was polymorphism, intact, partial deletion and complete deletion exons were found in the individuals with C antigen and probably existed specific D (nf) Ce haplotype. The function of insert was uncertain. The Rh gene sequences of Chinese Han nationality are different from those of Caucasian and the Rh gene library based on Han nationality should be established.

摘要

为观察中国汉族非血缘随机个体及家系中Rh血型的基因多态性,采用聚合酶链反应-序列特异性引物(PCR-SSP)技术,对160例RhD阳性非血缘个体、71例RhD阴性非血缘个体及7例先证者为RhD阴性的家系样本进行Rh C/E基因、RhD基因、外显子、内含子2和10、插入片段及Rh Box的扩增。结果显示,带有C抗原的RhD阴性个体的RhD基因存在多态性,D外显子发现3种形式,包括完整、部分缺失和完全缺失外显子。先证者为RhD阴性的家系多数样本中发现插入片段及Rh Box,其遗传符合孟德尔定律,且不影响RhD基因的表达。所有样本均未发现“正常”的RhD外显子4扩增产物。结论:中国汉族RhD阴性个体的基因结构存在多态性,带有C抗原的个体存在完整、部分缺失和完全缺失外显子,可能存在特异性D(nf)Ce单倍型。插入片段功能尚不确定。中国汉族Rh基因序列与白种人不同,应建立汉族Rh基因文库。

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