alpha-1,3-N-acetylgalactose aminotransferase gene 539G > C mutation leads to the A(2)B isoform

doi:10.4238/2014.April.16.7

科研成果详情

题名	alpha-1,3-N-acetylgalactose aminotransferase gene 539G > C mutation leads to the A(2)B isoform
作者	Lin, J. J.1; Wang, X. D.2; Zhu, S. Y.1
发表日期	2014-12-31
发表期刊	GENETICS AND MOLECULAR RESEARCH 影响因子和分区
语种	英语
原始文献类型	Article
关键词	A(2)B subtypes anti-A(1) antibody ABO gene Sequencing
其他关键词	BLOOD-GROUP GENE ; ABO LOCUS ; MOLECULAR-BASIS ; ALLELES ; IDENTIFICATION ; PHENOTYPE ; POPULATION ; DIVERSITY ; SUBGROUP ; SYSTEM
摘要	In this study, the phenotypic identification and molecular mechanism of one case of an A(2)B subtype pedigree was investigated. ABO blood groupings were identified by serological methods and sequence amplification was performed by polymerase chain reaction (PCR) using TA cloning and DNA sequencing analysis to identify the pedigree and the ABO gene haploid of the proband. There were both A and B antigens on the proband's red blood cells, and anti-A(1) antibodies were found in the serum. Direct sequencing of the 6th and 7th exons of the ABO gene showed the A208/B101 genotype, and haploid determination revealed the A208 and B101 alleles. Compared with the A102 allele sequence, the A208 allele was mutated at the 539 G>C site. Pedigree analysis showed that the ABO blood phenotypes of the proband's father, mother, husband, and daughter were A2, B, AB, and A(2)B, respectively, and their genotypes were A208/O02, B101/B101, A102/B101, and A208/B101, respectively. The father of the proband had anti-A(1) antibodies and the A208 allele of the proband was inherited from her father, which can be passed on to her daughter. The alpha-1, 3-N-acetylgalactose aminotransferase gene 539G>C mutation resulted in A(2)B phenotype generation, and individual serum contained the anti-A(1) antibody.
资助项目	Science and Technology Projects of Wenzhou [H20100057]
出版者	FUNPEC-EDITORA
出版地	RIBEIRAO PRETO
ISSN	1676-5680
卷号	13 期号:2 页码:2987-2993
DOI	10.4238/2014.April.16.7
页数	7
WOS类目	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS研究方向	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS记录号	WOS:000336729500068
收录类别	SCIE ; PUBMED
URL	查看原文
PubMed ID	24782133
通讯作者地址	[Lin, J. J.]Wenzhou Med Coll, Affiliated Hosp 2, Dept Blood Transfus, Wenzhou, Peoples R China.
引用统计	被引频次：2[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/18917
专题	附属第二医院_输血科第二临床医学院，附属第二医院、育英儿童医院
通讯作者	Lin, J. J.
作者单位	1.Wenzhou Med Coll, Affiliated Hosp 2, Dept Blood Transfus, Wenzhou, Peoples R China; 2.Wenzhou Med Coll, Affiliated Hosp 2, Sci Res Ctr, Wenzhou, Peoples R China
第一作者单位	附属第二医院_输血科
通讯作者单位	附属第二医院_输血科
第一作者的第一单位	附属第二医院_输血科
推荐引用方式 GB/T 7714	Lin, J. J.,Wang, X. D.,Zhu, S. Y.. alpha-1,3-N-acetylgalactose aminotransferase gene 539G > C mutation leads to the A(2)B isoform[J]. GENETICS AND MOLECULAR RESEARCH,2014,13(2):2987-2993.
APA	Lin, J. J., Wang, X. D., & Zhu, S. Y.. (2014). alpha-1,3-N-acetylgalactose aminotransferase gene 539G > C mutation leads to the A(2)B isoform. GENETICS AND MOLECULAR RESEARCH, 13(2), 2987-2993.
MLA	Lin, J. J.,et al."alpha-1,3-N-acetylgalactose aminotransferase gene 539G > C mutation leads to the A(2)B isoform".GENETICS AND MOLECULAR RESEARCH 13.2(2014):2987-2993.