BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems

被引：95

作者：

Patnaik, Santosh Kumar ^{[3
]}

Helmberg, Wolfgang ^{[2
]}

Blumenfeld, Olga O. ^{[1
]}

机构：

[1] Albert Einstein Coll Med, Dept Biochem, Bronx, NY 10461 USA

[2] Med Univ Graz, Dept Blood Grp Serol & Transfus Med, A-8036 Graz, Austria

[3] Roswell Pk Canc Inst, Dept Thorac Surg, Buffalo, NY 14203 USA

来源：

NUCLEIC ACIDS RESEARCH | 2012年 / 40卷 / D1期

基金：

美国国家卫生研究院;

关键词：

MUTATIONS;

D O I：

10.1093/nar/gkr958

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Analogous to human leukocyte antigens, blood group antigens are surface markers on the erythrocyte cell membrane whose structures differ among individuals and which can be serologically identified. The Blood Group Antigen Gene Mutation Database (BGMUT) is an online repository of allelic variations in genes that determine the antigens of various human blood group systems. The database is manually curated with allelic information collated from scientific literature and from direct submissions from research laboratories. Currently, the database documents sequence variations of a total of 1251 alleles of all 40 gene loci that together are known to affect antigens of 30 human blood group systems. When available, information on the geographic or ethnic prevalence of an allele is also provided. The BGMUT website also has general information on the human blood group systems and the genes responsible for them. BGMUT is a part of the dbRBC resource of the National Center for Biotechnology Information, USA, and is available online at www.ncbi.nlm.nih.gov/projects/gv/rbc/xslcgi.fcgi?cmd=bgmut. The database should be of use to members of the transfusion medicine community, those interested in studies of genetic variation and related topics such as human migrations, and students as well as members of the general public.

引用

页码：D1023 / D1029

页数：7

共 11 条

[1] Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the blood group antigen gene mutation database [J].

Blumenfeld, OO ;

Patnaik, SK .

HUMAN MUTATION, 2004, 23 (01) :8-16

[2] The distribution of the MiIII (GP.Mur) phenotype among the population of Taiwan [J].

Broadberry, RE ;

Lin, M .

TRANSFUSION MEDICINE, 1996, 6 (02) :145-148

[3] Time for a unified system of mutation description and reporting: A review of locus-specific mutation Databases [J].

Claustres, M ;

Horaitis, O ;

Vanevski, M ;

Cotton, RGH .

GENOME RESEARCH, 2002, 12 (05) :680-688

[4] PhenCode:: Connecting ENCODE data with mutations and phenotype [J].

Giardine, Belinda ;

Riemer, Cathy ;

Hefferon, Tim ;

Thomas, Daryl ;

Hsu, Fan ;

Zielenski, Julian ;

Sang, Yunhua ;

Elnitski, Laura ;

Cutting, Garry ;

Trumbower, Heather ;

Kern, Andrew ;

Kuhn, Robert ;

Patrinos, George P. ;

Hughes, Jim ;

Higgs, Doug ;

Chui, David ;

Scriver, Charles ;

Phommarinh, Manyphong ;

Patnaik, Santosh K. ;

Blumenfeld, Olga ;

Gottlieb, Bruce ;

Vihinen, Mauno ;

Valiaho, Jouni ;

Kent, Jim ;

Miller, Webb ;

Hardison, Ross C. .

HUMAN MUTATION, 2007, 28 (06) :554-562

[5]

Hamosh A, 2005, NUCLEIC ACIDS RES, V33, pD514

[6] The sequencing-based typing tool of dbMHC: typing highly polymorphic gene sequences [J].

Helmberg, W ;

Dunivin, R ;

Feolo, M .

NUCLEIC ACIDS RESEARCH, 2004, 32 :W173-W175

[7] Patterns of Human Genetic Variation Inferred from Comparative Analysis of Allelic Mutations in Blood Group Antigen Genes [J].

Patnaik, Santosh Kumar ;

Blumenfeld, Olga O. .

HUMAN MUTATION, 2011, 32 (03) :263-271

[8] The IMGT/HLA database [J].

Robinson, James ;

Mistry, Kavita ;

McWilliam, Hamish ;

Lopez, Rodrigo ;

Parham, Peter ;

Marsh, Steven G. E. .

NUCLEIC ACIDS RESEARCH, 2011, 39 :D1171-D1176

[9] Database resources of the National Center for Biotechnology Information [J].

Sayers, Eric W. ;

Barrett, Tanya ;

Benson, Dennis A. ;

Bolton, Evan ;

Bryant, Stephen H. ;

Canese, Kathi ;

Chetvernin, Vyacheslav ;

Church, Deanna M. ;

DiCuccio, Michael ;

Federhen, Scott ;

Feolo, Michael ;

Fingerman, Ian M. ;

Geer, Lewis Y. ;

Helmberg, Wolfgang ;

Kapustin, Yuri ;

Landsman, David ;

Lipman, David J. ;

Lu, Zhiyong ;

Madden, Thomas L. ;

Madej, Tom ;

Maglott, Donna R. ;

Marchler-Bauer, Aron ;

Miller, Vadim ;

Mizrachi, Ilene ;

Ostell, James ;

Panchenko, Anna ;

Phan, Lon ;

Pruitt, Kim D. ;

Schuler, Gregory D. ;

Sequeira, Edwin ;

Sherry, Stephen T. ;

Shumway, Martin ;

Sirotkin, Karl ;

Slotta, Douglas ;

Souvorov, Alexandre ;

Starchenko, Grigory ;

Tatusova, Tatiana A. ;

Wagner, Lukas ;

Wang, Yanli ;

Wilbur, W. John ;

Yaschenko, Eugene ;

Ye, Jian .

NUCLEIC ACIDS RESEARCH, 2011, 39 :D38-D51

[10] International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Berlin report [J].

Storry, J. R. ;

Castilho, L. ;

Daniels, G. ;

Flegel, W. A. ;

Garratty, G. ;

Francis, C. L. ;

Moulds, J. M. ;

Moulds, J. J. ;

Olsson, M. L. ;

Poole, J. ;

Reid, M. E. ;

Rouger, P. ;

van der Schoot, E. ;

Scott, M. ;

Smart, E. ;

Tani, Y. ;

Yu, L. -C. ;

Wendel, S. ;

Westhoff, C. ;

Yahalom, V. ;

Zelinski, T. .

VOX SANGUINIS, 2011, 101 (01) :77-82

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