An easy RHD genotyping strategy for D-East Asian persons applied to Korean blood donors
An easy RHD genotyping strategy for D-East Asian persons applied to Korean blood donors
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DOI：
10.1111/j.1537-2995.2006.01042.x
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发表时间：
2006-12-01
期刊：
影响因子：
2.9
通讯作者：
Flegel, Willy A.
中科院分区：
文献类型：
--
作者：
Luettringhaus, Timo A.;Cho, Duck;Flegel, Willy A.
背景：在东亚人群中，已知 RHD 等位基因在 D- 供体中频繁出现，需要适当的基因分型策略。先前在台湾报道的“RHDel”等位基因含有基因组 1013 bp 缺失的分子基础受到了几位作者的质疑。 研究设计和方法：在来自韩国西南部光州的 126 名随机血清学 D 血捐献者中研究了 RHD 基因的存在。还对四名 D 抗原呈弱阳性的捐献者进行了分析。通过聚合酶链式反应 (PCR) 和序列特异性引发 (PCR-SSP) 或核苷酸测序来确定 RH 等位基因。 结果：75% 的血清学 D-样本缺乏 RHD 基因，10% 携带杂种 RHD-CE(2-9)-D-2 或 RHD-CE(2-7)-D-2 等位基因，13% 代表 RHD(K409K)，2% 为弱等位基因D 15 型和 17 型。在 4 名弱 D 型捐献者中，2 名携带弱 D 15 型，1 名携带 RHD(K409K)，1 名携带新型弱 D 43 型。RHD (K409K) 的关键分子特征及其群体频率与报道的 RHDel 等位基因的特征无法区分。结论：韩国 RHD 等位基因频率与中国和日本频率相当。结论是，RHDel 等位基因实际上可能不存在，但与 RHD(K409K) 相同。设计了一种适用于所有东亚人群的 D 型供体的实用 RHD 基因分型策略。该策略仅需要针对 RHD 内含子 4 和外显子 7 以及 RHD(K409K) 和非 RHD(K409K) 进行 4 次 PCR-SSP 程序。
BACKGROUND: In East Asian populations RHD alleles are known to occur frequently among D- donors, requiring suitable genotyping strategies. The molecular basis of the "RHDel" allele previously reported in Taiwan to harbor a genomic 1013-bp deletion was questioned by several authors.STUDY DESIGN AND METHODS: The presence of the RHD gene was investigated in 126 random serologic D- blood donors from Gwangju, southwest Korea. Four donors who typed weakly positive for the D antigen were also analyzed. RH alleles were determined by polymerase chain reaction (PCR) with sequence-specific priming (PCR-SSP) or nucleotide sequencing.RESULTS: Seventy-five percent of the serologically D- samples lacked the RHD gene, 10 percent carried the hybrid RHD-CE(2-9)-D-2 or RHD-CE(2-7)-D-2 alleles, 13 percent represented the RHD(K409K), and 2 percent were weak D type 15 and type 17. Among the four donors typing weak D, two carried weak D type 15, one RHD(K409K), and one the novel weak D type 43. Critical molecular characteristics of RHD(K409K) and its population frequencies were indistinguishable to those reported for the RHDel allele.CONCLUSION: Korean RHD allele frequencies are comparable to Chinese and Japanese frequencies. It is concluded that the RHDel allele may actually not exist but is identical to RHD(K409K). A practical RHD genotyping strategy applicable to D- donors in all East Asian populations was devised. The strategy requires four PCR-SSP procedures only for RHD intron 4 and exon 7 as well as RHD(K409K) and non-RHD(K409K).