[中国人群中德尔血型表型的分子背景研究]

[Study on the molecular background of Del phenotype in Chinese population].

作者信息

Li Qin, Ye Lu-yi, Guo Zhong-hui, Qian Min, Zhu Zi-yan

机构信息

School of Life, East China Normal University, Shanghai, 200062 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Oct;23(5):486-91.

PMID:17029192

Abstract

OBJECTIVE

To elucidate the molecular background of Del phenotype in the Chinese population and explore new Del alleles.

METHODS

Five hundred and fifteen RhD negative blood samples was tested by Rh typing test, indirect antiglobulin test and adsorption and elution assay to screen the Del phenotype. DNA of all the Del samples was analysed by multiplex polymerase chain reaction (MPX PCR) for the presence of RHD and by sequence-specific primer polymerase chain reaction (PCR-SSP) for Del alleles: RHD 1227A and RHD 885T. Samples which showed the negative result by PCR-SSP, were additionally analysed by genomic DNA sequencing and cDNA sequencing.

RESULTS

Seventy-nine Del samples were found by adsorption and elution assay. All these samples had RHD exons 3, 4, 5, 6, 7 and 9. Except 4 Del samples, other 75 Del samples carried the RHD 1227A allele. None of the samples had the RHD 885T allele. Four novel RHD alleles were found in these four Del sample. There were RHD 3G-->A (GenBank DQ310735), RHD 28C-->T, RHD 53T-->C (GenBank DQ451877,DQ451878), RHD 251T-->C (GenBank DQ310734).

CONCLUSION

fnRh blood group system is very complex. New D variation phenotypes and new RHD alleles may be discovered ceaselessly.

摘要

目的

阐明中国人群中Del血型表型的分子背景，并探索新的Del等位基因。

方法

采用Rh血型定型试验、间接抗球蛋白试验及吸附洗脱试验对515份RhD阴性血样进行检测，以筛选Del血型表型。对所有Del样本的DNA进行多重聚合酶链反应（MPX PCR）检测RHD的存在情况，并采用序列特异性引物聚合酶链反应（PCR-SSP）检测Del等位基因：RHD 1227A和RHD 885T。对PCR-SSP结果为阴性的样本，进一步进行基因组DNA测序和cDNA测序分析。

结果

通过吸附洗脱试验发现79份Del样本。所有这些样本均含有RHD外显子3、4、5、6、7和9。除4份Del样本外，其他75份Del样本携带RHD 1227A等位基因。所有样本均未检测到RHD 885T等位基因。在这4份Del样本中发现了4个新的RHD等位基因，分别为RHD 3G→A（GenBank DQ310735）、RHD 28C→T、RHD 53T→C（GenBank DQ451877、DQ451878）、RHD 251T→C（GenBank DQ310734）。