罕见的ABO等位基因编码糖基转移酶与双特异性发现柬埔寨个体与A2B表型

HongBi Yu, Yoo Na Chung, Tae Yeul Kim, Eun-Mee Suh, Kwang-Mo Choi, D. Cho
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引用次数: 0

摘要

顺式ab和B(A)等位基因编码具有双A和B糖基转移酶活性的ABO酶。虽然全球罕见,但在韩国、日本和中国人群中发现的顺式-AB表型相对较多。B(A)等位基因的病例报道多见于中国人群。对一名ABO差异的柬埔寨妇女进行的正向分型显示抗a和抗b试剂有强烈反应,而凝集素抗a1没有反应。反向分型检测到抗a1抗体。通过对6、7外显子的ABO基因序列分析,鉴定出其中一个等位基因为ABO*B。01。相比之下,另一个含有C . 803g > C替换的等位基因要么是ABO*cisAB。05或ABO*BA。06等位基因。ABO血型* cisAB。05和ABO*BA。尽管常规血清学检测和ABO基因分型,06个等位基因仍然无法区分。据作者所知,这是首次在居住在韩国的柬埔寨人身上发现这些变异的病例报告。(韩国输血杂志2020;31:25 -259)
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rare ABO Allele Encoding Glycosyltransferase with Dual Specificity Found in a Cambodian Individual with the A2B Phenotype
Cis-AB and B(A) alleles encode an ABO enzyme with dual A and B glycosyltransferase activity. Although globally rare, the cis -AB phenotype is found relatively often in Korean, Japanese, and Chinese populations. Cases of the B(A) allele have been reported mostly in the Chinese population. Forward typing performed in a Cambodian woman with an ABO discrepancy demonstrated a strong reaction with anti-A and anti-B reagents, while there was no reaction with lectin anti-A 1 . The anti-A 1 antibody was detected in reverse typing. Through ABO gene sequence analyses of exons 6 and 7, one of the alleles was identified as ABO*B.01 . In contrast, the other allele harboring a c.803G > C substitution was either ABO*cisAB.05 or ABO*BA.06 allele. The ABO*cisAB.05 and ABO*BA.06 alleles remain indistinguishable despite routine serological testing and ABO genotyping. To the best of the author’s knowledge, this is the first case report of these variants discovered in a Cambodian individual residing in Korea. (Korean J Blood Transfus 2020;31:254-259)
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