Luettringhaus Timo A, Cho Duck, Ryang Dong Wook, Flegel Willy A
Department of Transfusion Medicine, University Hospital, Ulm, Germany.
Transfusion. 2006 Dec;46(12):2128-37. doi: 10.1111/j.1537-2995.2006.01042.x.
In East Asian populations RHD alleles are known to occur frequently among D- donors, requiring suitable genotyping strategies. The molecular basis of the "RHD(el)" allele previously reported in Taiwan to harbor a genomic 1013-bp deletion was questioned by several authors.
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.
Seventy-five percent of the serologically D- samples lacked the RHD gene, 10 percent carried the hybrid RHD-CE(2-9)-D2 or RHD-CE(2-7)-D2 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.
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).
在东亚人群中,已知RHD等位基因在D抗原阴性献血者中频繁出现,这需要合适的基因分型策略。先前在台湾报道的“RHD(el)”等位基因的分子基础是基因组1013 bp缺失,这一观点受到了几位作者的质疑。
对来自韩国西南部光州的126名随机血清学D抗原阴性献血者进行RHD基因检测。还对4名D抗原弱阳性的献血者进行了分析。通过序列特异性引物聚合酶链反应(PCR-SSP)或核苷酸测序确定RH等位基因。
75%的血清学D抗原阴性样本缺乏RHD基因,10%携带杂合RHD-CE(2-9)-D2或RHD-CE(2-7)-D2等位基因,13%为RHD(K409K),2%为弱D抗原15型和17型。在4名弱D抗原分型的献血者中,2名携带弱D抗原15型,1名携带RHD(K409K),1名携带新型弱D抗原43型。RHD(K409K)的关键分子特征及其群体频率与报道的RHDel等位基因无法区分。
韩国RHD等位基因频率与中国和日本的频率相当。得出的结论是,RHDel等位基因可能实际上并不存在,而是与RHD(K409K)相同。设计了一种适用于所有东亚人群D抗原阴性献血者的实用RHD基因分型策略。该策略仅需对RHD内含子4和外显子7以及RHD(K409K)和非RHD(K409K)进行4次PCR-SSP操作。