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1例新生儿血小板减少症患儿发现HPA-21bw等位基因报告 被引量:2

A case report:HPA-21bw allele found in a neonatal thrombocytopenia patient
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摘要 目的调查新生儿血小板减少症患儿是否携带人类血小板抗原HPA-21w等位基因。方法对20例新生儿血小板减少症患儿及其母亲采用DNA测序方法进行HPA-21bw基因分型。结果 DNA测序表明1例新生儿血小板减少症患儿GPIIIa编码基因1960位G→A,为HPA-21a/b杂合子;而其母亲为HPA-21a/a纯合子,与患儿HPA-21bw不配合。结论在新生儿血小板减少症患儿中首次检出HPA-21bw等位基因,提示HPA-21bw抗原是中国人群引起新生儿同种免疫性血小板减少症的潜在抗原位点。 To study whether human platelet antigen-21bw (HPA-21bw) alleles are carried by neonatal thrombocytopenia patients, total of 20 neonatal thrombocytopenia patients and their mothers were genotyped for HPA-21bw by using a DNA-sequencing method. Result showed that a single G to A substitution at nucleotide 1 960 of GPIIIa gene occurred in a neonatal thrombocytopenia patient, thus the patient was observed to be HPA- 21a/b heterozygous. The patient's mother was found to be HPA-21a/a homozygous but didn't match her child by HPA-21bw antigen. This first study, reporting the rare HPA-21bw allele in neonatal thromboeytopenia patients, suggests that HPA-21bw is a potential trigger for neonatal alloimmune thrombocytopenia in the Chinese population.
出处 《免疫学杂志》 CAS CSCD 北大核心 2013年第6期507-509,共3页 Immunological Journal
基金 广州市医药卫生科技项目(20131A010023)
关键词 HPA-21bw抗原 新生儿血小板减少症 DNA测序 HPA-21bw antigen Neonatal thrombocytopenia DNA-sequencing
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