[Sequence analysis for a case with Para-Bombay AB blood type]

doi:10.3760/cma.j.cn511374-20200605-00411

科研成果详情

题名	[Sequence analysis for a case with Para-Bombay AB blood type]
其他题名	Sequence analysis for a case with Para-Bombay AB blood type
作者	Xuejiao Cai; Xuebing Zhang; Xiangjing Zhou; Zuoting Xie
发表日期	2021-08-10
发表期刊	Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 影响因子和分区
语种	英语
原始文献类型	期刊论文
关键词	类孟买血型 FUT1基因 FUT2基因 H抗原
其他关键词	Para-Bombay subtype ; FUT1 gene ; FUT2 gene ; H antigen
摘要	Objective:To explore the molecular basis for a rare case with Para-Bombay AB blood type. Methods:Serological method was used to determine the blood type of the proband. Exons 6 and 7 of the ABO gene and the coding regions of FUT1 and FUT2 genes were analyzed by direct sequencing. Results:Serological results showed that the proband was a Para-Bombay AB subtype. His genotype was determined as ABO*A1.02/B.01. The proband was also found to harbor c.551-552delAG and c.881-882delTT of the FUT1 gene. For his four children, there were three type B and one type A, though the expression of the H type was normal. Conclusion:The double deletions in the coding region of the FUT1 gene probably underlay the Para-Bombay blood type in the proband. Carrier of single-strand deletions may have a normal ABO phenotype.
其他摘要	Objective To explore the molecular basis for a rare case with Para-Bombay AB blood type.Methods Serological method was used to determine the blood type of the proband.Exons 6 and 7 of the ABO gene and the coding regions of FUT1 and FUT2 genes were analyzed by direct sequencing.Results Serological results showed that the proband was a Para-Bombay AB subtype.His genotype was determined as ABO * A1.02/B.01.The proband was also found to harbor c.551-552del AG and c.881-882del TT of the FUT1 gene.For his four children, there were three type B and one type A,though the expression of the H type was normal.Conclusion The double deletions in the coding region of the FUT1 gene probably underlay the Para-Bombay blood type in the proband.Carrier of single-strand deletions may have a normal ABO phenotype.
资助项目	浙江省温州市科技局项目
出版者	Chinese Medical Journals Publishing House Co.Ltd
ISSN	1003-9406
卷号	38 期号:8 页码:809-811.
DOI	10.3760/cma.j.cn511374-20200605-00411
页数	3
收录类别	PUBMED ; CSCD ; 万方 ; SCOPUS ; ISTIC ; PKU ; 北大核心
学科领域	医药、卫生 ; 基础医学
URL	查看原文
CSCD记录号	CSCD:7067941
PubMed ID	34365632
SCOPUSEID	2-s2.0-85113842579
通讯作者地址	[Cai, Xuejiao]Department of Blood Transfusion,the First Affiliated Hospital of Wenzhou Medical University,Zhejiang,Wenzhou,325000,China
Scopus学科分类	Medicine (all)
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/34478
专题	附属第一医院_输血科
作者单位	Department of Blood Transfusion, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China
第一作者单位	附属第一医院_输血科
通讯作者单位	附属第一医院
第一作者的第一单位	附属第一医院_输血科
推荐引用方式 GB/T 7714	Xuejiao Cai,Xuebing Zhang,Xiangjing Zhou,et al. [Sequence analysis for a case with Para-Bombay AB blood type][J]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,2021,38(8):809-811..
APA	Xuejiao Cai, Xuebing Zhang, Xiangjing Zhou, & Zuoting Xie. (2021). [Sequence analysis for a case with Para-Bombay AB blood type]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 38(8), 809-811..
MLA	Xuejiao Cai,et al."[Sequence analysis for a case with Para-Bombay AB blood type]".Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 38.8(2021):809-811..