Gene sequencing of three cases with discrepant ABO blood group identification results: including discovery of a new ABO allele mutation
目的 探讨导致3例ABO血型正反定型不符的分子机制。方法 采用血型血清学方法对ABO正反定型不符标本进行亚型鉴定；采用PCR方法扩增ABO基因的6、7外显子；采用测序方法对ABO6、7外显子进行直接测序。结果 血型血清学试验结合基因测序证实3例标本为分别为：AwB(1例)、Ael(2例)。基因直接测序发现先证者1在A等位基因第7外显子发生了476C>T、595C>T突变，在B等位基因第7外显子526C>G、657C>T、703G>A、796C>A、803G>C、930G>A突变；先证者2、3在A等位基因第7外显子发生了476C>T和767C>T突变，两标本突变点符合Ael05。以上的基因位点改...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Chinês |
| Pubblicazione: |
Institute of Blood Transfusion of Chinese Academy of Medical Sciences
2022-10-01
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| Serie: | Zhongguo shuxue zazhi |
| Soggetti: | |
| Accesso online: | https://www.cjbt.cn/thesisDetails#10.13303/j.cjbt.issn.1004-549x.2022.10.021&lang=en |
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