等位基因
表型
东亚
遗传学
人口学
生物
医学
地理
基因
社会学
中国
考古
作者
Jizhi Wen,Xiaojie Ma,Shuangshuang Jia,Jingwang Chen,Ling Wei,Yanli Ji
出处
期刊:Vox Sanguinis
[Wiley]
日期:2025-05-19
卷期号:120 (7): 714-722
被引量:1
摘要
BACKGROUND AND OBJECTIVES: Among the rare serologically D-negative (D-) individuals in Asia, those carrying the Asian-type DEL allele (RHD*DEL1) can be safely managed as D+ individuals during transfusion and pregnancy. Recently, some individuals carrying RHD*DEL1, who exhibit serologically weak/partial D phenotypes rather than the serologically D- phenotype, have also been described. Whether anti-D alloimmunization can occur among them was explored. MATERIALS AND METHODS: A retrospective study was carried out in 143 Chinese pregnant women identified as serologically weak/partial D phenotypes. The RHD*DEL1 allele was detected using the high-resolution melting method. Then, RHD genotyping was determined mainly by Sanger sequencing. D epitope expression was detected with the anti-D panel (D-Screen) by haemagglutination and adsorption/elution tests. RESULTS: RHD*DEL1 allele carriers were identified in 42.0% (60/143) of weak/partial D women. The single genotypes (mainly RHD*DEL1/01N.01 or RHD*DEL1/DEL1, n = 52) and the compound heterozygous genotypes (RHD*DEL1/weak or partial D allele, n = 8) were detected. A complete repertoire of D epitopes was shown in six weak/partial D women who simultaneously carried the RHD*DEL1 allele. Alloanti-D was not observed among any carriers (0/60). In the remaining 78 weak/partial D samples available but not carrying RHD*DEL1, 24 types of RHD variant alleles, including six novel alleles, were detected. CONCLUSION: The RHD*DEL1 allele occurred often in the Chinese individuals with weak/partial D phenotypes who showed a lack of anti-D alloimmunization. Routine Asian-type DEL genotyping is recommended both in serologically D- and weak D/partial D individuals with East and Southeast Asian ancestry to consider Asian-type DEL carriers as D+ individuals during transfusion and pregnancy.
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