1例稀有CisAB血型的鉴定及家系分析
Identification and pedigree analysis of one rare CisAB phenotype
骆宏 1朱洁好 2邵媛 1叶伙梅 2陈景旺 1罗广平1
作者信息
- 1. 广州血液中心广州市血液安全重点实验室,广东广州 510095
- 2. 云浮市人民医院输血科,广东云浮 527300
- 折叠
摘要
目的 对1例血清学检测疑为CisAB型的患者血液样本进行进一步确认和家系调查,以探究其分子背景及遗传方式.方法 收集患儿及家系成员EDTA抗凝血液样本,采用血型血清学方法进行ABO血型鉴定,血样抽提DNA后PCR扩增ABO基因第6和第7外显子,对扩增产物进行测序分析.结果 患者和母亲的血液样本血清学正定型分别呈现A1Bx和A2B型,红细胞表面检出较强的H抗原,血浆中含有弱的抗-B,为CisAB表型;患儿父亲和哥哥为正常的A型和O型.克隆测序表明患儿在ABO*B.01基础上发生c.796A＞C突变形成新的CisAB等位基因,其基因型为ABO*CisAB.novel/ABO*A1.01,母亲基因型为 ABO*CisAB.novel/ABO*O.01.01,父亲基因型为 ABO*A1.01/ABO*O.01.01,哥哥基因型为ABO*O.01.01/ABO*O.01.01.结论 患儿和母亲为稀有的CisAB型,ABO*B.01发生c.796A＞C突变形成新的CisAB等位基因并能稳定遗传给子代.
Abstract
Objective To discuss the molecular background and genetic rule of a patient whose ABO blood group was suspected to be CisAB with further identification tests and pedigree analysis.Methods Peripheral blood samples with ethyl-enediaminetetraacetic acid disodium salt(EDTA-Na2)anticoagulant from the patient and his three family members were col-lected,ABO blood group of all samples were identified by serological tests.Exons 6 and 7 of ABO gene were amplified by polymerase chain reaction(PCR)after genomics DNA had been extracted,then the amplified products were performed se-quencing analysis.Results ABO forward typing results of the patient and his mother were A1Bx and A2B,respectively.How-ever,high level H antigens were detected on the RBCs and low level anti-B was found in their plasma.Serological results indicated patient and his mother were CisAB,while his father and brother were normal A and O group.Cloning and sequenc-ing showed that one of the patient's alleles arising from nucleotide substitution c.796A＞C in ABO*B.01 caused the CisAB phenotype and his genotype was ABO*CisAB.novel/ABO*A1.01,mother's genotype was ABO*CisAB.novel/ABO*O.01.01,father and brother's were ABO*A1.01/ABO*O.01.01 and ABO*O.01.01/ABO*O.01.01,respectively.Conclusion ABO blood group of the patient and his mother were CisAB,novel allele arising from nucleotide substitution c.796A＞C in ABO*B.01 can lead to CisAB phenotype and could inherit to next generation.
关键词
ABO血型/CisAB型/等位基因/家系分析Key words
ABO blood group/CisAB phenotype/allele/pedigree analysis引用本文复制引用
基金项目
广州市科技计划项目(2023A03J0552)
出版年
2024
NETL
NSTL
万方数据