As normal as normal can be?

被引：26

作者：

Carter, NP ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

来源：

NATURE GENETICS | 2004年 / 36卷 / 09期

关键词：

D O I：

10.1038/ng0904-931

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two papers report that large-scale copy-number variations, ranging in size from 100 kb to 2 Mb, are distributed widely throughout the human genome, and that a high proportion of them encompass known genes. This unexpected level of genome variation has implications for our view of human genetic diversity and phenotypic variation.

引用

页码：931 / 932

页数：2

共 16 条

[1] Hotspots of mammalian chromosomal evolution
Bailey, JA
Baertsch, R
Kent, WJ
Haussler, D
Eichler, EE
[J]. GENOME BIOLOGY, 2004, 5 (04)
[2] Recent segmental duplications in the human genome
Bailey, JA
Gu, ZP
Clark, RA
Reinert, K
Samonte, RV
Schwartz, S
Adams, MD
Myers, EW
Li, PW
Eichler, EE
[J]. SCIENCE, 2002, 297 (5583) : 1003 - 1007
[3] LACK OF RH C/E EXPRESSION IN THE RHESUS D-- PHENOTYPE IS THE RESULT OF A GENE DELETION
BLUNT, T
STEERS, F
DANIELS, G
CARRITT, B
[J]. ANNALS OF HUMAN GENETICS, 1994, 58 : 19 - 24
[4] CAMPBELL RD, 1990, EXP CLIN IMMUNOGENET, V7, P69
[5] An assessment of the sequence gaps: Unfinished business in a finished human genome
Eichler, EE
Clark, RA
She, XW
[J]. NATURE REVIEWS GENETICS, 2004, 5 (05) : 345 - 354
[6] The nature, pattern and function of human sequence variation
Evan E Eichler
Kelly A Frazer
[J]. Genome Biology, 5 (4)
[7] Cloning and characterization of a Golgin-related gene from the large-scale polymorphism linked to the PML gene
Gilles, F
Goy, A
Remache, Y
Manova, K
Zelenetz, AD
[J]. GENOMICS, 2000, 70 (03) : 364 - 374
[8] Extensive normal copy number variation of a β-defensin antimicrobial-gene cluster
Hollox, EJ
Armour, JAL
Barber, JCK
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (03) : 591 - 600
[9] Detection of large-scale variation in the human genome
Iafrate, AJ
Feuk, L
Rivera, MN
Listewnik, ML
Donahoe, PK
Qi, Y
Scherer, SW
Lee, C
[J]. NATURE GENETICS, 2004, 36 (09) : 949 - 951
[10] Comparative genomic analysis of the MHC: the evolution of class I duplication blocks, diversity and complexity from shark to man
Kulski, JK
Shiina, T
Anzai, T
Kohara, S
Inoko, H
[J]. IMMUNOLOGICAL REVIEWS, 2002, 190 (01) : 95 - 122

← 1 2 →