Gross rearrangement breakpoint database (GRaBD™)

被引：17

作者：

Abeysinghe, SS

Stenson, PD

Krawczak, M

Cooper, DN

机构：

[1] Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

[2] Univ Kiel, Inst Med Informat & Stat, Kiel, Germany

来源：

HUMAN MUTATION | 2004年 / 23卷 / 03期

关键词：

translocation; deletion; gene rearrangement; breakpoint junction; inherited disease; cancer;

D O I：

10.1002/humu.20006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Translocations and gross gene deletions are an important cause of both cancer and inherited disease. Such DNA rearrangements are nonrandomly distributed in the human genome as a consequence of selection for growth advantage and/or the inherent potential of some DNA sequences to be particularly susceptible to breakage and recombination. The Gross Rearrangement Breakpoint Database (GRaBD(TM); www.uwcm.ac.uk/uwcm/mg/grabd/) was established primarily for the analysis of the sequence context of translocation and deletion breakpoints in a search for characteristics that might have rendered these sequences prone to rearrangement. GRaBD, which contains 397 germline and somatic DNA breakpoint junction sequences derived from 219 different rearrangements underlying human inherited disease and cancer, is the only comprehensive collection of gross gene rearrangement breakpoint junctions currently available. (C) 2004 Wiley-Liss, Inc.

引用

页码：219 / 221

页数：3

共 15 条

[11] Consequences of chromosomal abnormalities in tumor development [J].

Sánchez-García, I .

ANNUAL REVIEW OF GENETICS, 1997, 31 :429-453

[12] Genome architecture, rearrangements and genomic disorders [J].

Stankiewicz, P ;

Lupski, JR .

TRENDS IN GENETICS, 2002, 18 (02) :74-82

[13] Human gene mutation database (HGMD®):: 2003 update [J].

Stenson, PD ;

Ball, EV ;

Mort, M ;

Phillips, AD ;

Shiel, JA ;

Thomas, NST ;

Abeysinghe, S ;

Krawczak, M ;

Cooper, DN .

HUMAN MUTATION, 2003, 21 (06) :577-581

[14] The EMBL Nucleotide Sequence Database: major new developments [J].

Stoesser, G ;

Baker, W ;

van den Broek, A ;

Garcia-Pastor, M ;

Kanz, C ;

Kulikova, T ;

Leinonen, R ;

Lin, Q ;

Lombard, V ;

Lopez, R ;

Mancuso, R ;

Nardone, F ;

Stoehr, P ;

Tuli, MA ;

Tzouvara, K ;

Vaughan, R .

NUCLEIC ACIDS RESEARCH, 2003, 31 (01) :17-22

[15] Genew: The Human Gene Nomenclature Database [J].

Wain, HM ;

Lush, M ;

Ducluzeau, F ;

Povey, S .

NUCLEIC ACIDS RESEARCH, 2002, 30 (01) :169-171

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