中国人 DEL 表型的分子基础。

Molecular basis of DEL phenotype in the Chinese population.

机构信息

Department of Clinical Laboratory, The Fifth People's Hospital of Wuxi, The Clinical College of Nanjing Medical University, Wuxi, Jiangsu 214005, PR China.

出版信息

BMC Med Genet. 2014 May 5;15:54. doi: 10.1186/1471-2350-15-54.

Abstract

BACKGROUND

Rh blood group system is the most complex and immunogenetic blood group system. Prevalent RHD alleles vary in different populations. We conducted the present study to examine the genotype of DEL individuals and to elucidate whether novel alleles exist in the Chinese population.

METHODS

DEL phenotype was identified by a serologic adsorption-elution method. The nucleotide sequences of ten RHD exons and exon-intron boundary regions were evaluated by RHD gene-specific PCR-SSP and sequencing.

RESULTS

Of 42306 samples from individual donors and patients, 165 samples were typed as D-negative. Among these D-negative samples, 41 DEL individuals were observed. Thirty-seven DELs were confirmed to have the RHD1227A allele. Two DELs seemed to have RHD-CE-D hybrid alleles, including one RHD-CE (4-7)-D and one RHD-CE (2-5)-D. Two novel RHD alleles were found among the rest of the DEL samples, including one RHD93T > A and one RHD838G > A.

CONCLUSION

In this study, about 24.85% (41/165) of the apparent D-negative Chinese individuals were DEL. RHD1227G > A is the most frequent allele in Chinese DEL phenotypes, accounting for 90.24% (37/41). The RHD-CE-D hybrid allele might be the second most frequent DEL allele in the Chinese population. Our study would contribute to the understanding of the molecular mechanism underlying D antigen expression of DEL individuals and provide useful information for designing suitable genotyping strategies in RhD-negative individuals in Asia.

摘要

背景

Rh 血型系统是最复杂和免疫遗传的血型系统。不同人群中流行的 RHD 等位基因有所不同。本研究旨在检测 DEL 个体的基因型,并阐明中国人群中是否存在新的等位基因。

方法

采用血清吸附洗脱法鉴定 DEL 表型。通过 RHD 基因特异性 PCR-SSP 和测序评估 10 个 RHD 外显子和外显子-内含子边界区域的核苷酸序列。

结果

在来自个体供者和患者的 42306 个样本中,有 165 个样本被定型为 D 阴性。在这些 D 阴性样本中,观察到 41 例 DEL 个体。37 例 DEL 被确认为具有 RHD1227A 等位基因。2 例 DEL 似乎具有 RHD-CE-D 杂合等位基因,包括 1 例 RHD-CE(4-7)-D 和 1 例 RHD-CE(2-5)-D。在其余的 DEL 样本中发现了另外 2 个新的 RHD 等位基因,包括 1 个 RHD93T > A 和 1 个 RHD838G > A。

结论

在本研究中,约 24.85%(41/165)的明显 D 阴性中国个体为 DEL。RHD1227G > A 是中国 DEL 表型中最常见的等位基因,占 90.24%(37/41)。RHD-CE-D 杂合等位基因可能是中国人群中第二常见的 DEL 等位基因。本研究有助于了解 DEL 个体 D 抗原表达的分子机制,并为亚洲 RhD 阴性个体的合适基因分型策略提供有用信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c340/4024116/2867f4e0ff49/1471-2350-15-54-1.jpg

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