1例新生儿血小板减少症患儿发现HPA-21bw等位基因报告  

A case report:HPA-21bw allele found in a neonatal thrombocytopenia patient

作　　者：周豪杰[1] 邓晶 丁浩强 聂咏梅[1] 

机构地区：[1]广州血液中心质控科,510095 [2]临床输血研究所

出　　处：《免疫学杂志》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)

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.

关 键 词：HPA-21bw抗原 新生儿血小板减少症 DNA测序 

分 类 号：R722.1[医药卫生—儿科]