Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

被引：353

作者：

Bruder, Carl E. G. ^{[1
]}

Piotrowski, Arkadiusz ^{[1
]}

Gijsbers, Antoinet A. C. J. ^{[2
,3
]}

Andersson, Robin ^{[4
]}

Erickson, Stephen ^{[5
]}

de Stahl, Teresita Diaz ^{[6
]}

Menzel, Uwe ^{[6
]}

Sandgren, Johanna ^{[7
]}

von Tell, Desiree ^{[1
]}

Poplawski, Andrzej ^{[1
]}

Crowley, Michael ^{[1
]}

Crasto, Chiquito ^{[1
]}

Partridge, E. Christopher ^{[1
]}

Tiwari, Hemant ^{[5
]}

Allison, David B. ^{[1
,5
]}

Komorowski, Jan ^{[4
]}

van Ommen, Gert-Jan B. ^{[2
,3
]}

Boomsma, Dorret I. ^{[8
]}

Pedersen, Nancy L. ^{[9
]}

den Dunnen, Johan T. ^{[2
,3
]}

Wirdefeldt, Karin ^{[9
]}

Dumanski, Jan P. ^{[1
,6
]}

机构：

[1] Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA

[2] Leiden Univ, Med Ctr, Ctr Human & Clin Genet, NL-2300 RC Leiden, Netherlands

[3] Ctr Med Syst Biol, NL-2300 RA Leiden, Netherlands

[4] Uppsala Univ, Linnaeus Ctr Bioinformat, SE-75124 Uppsala, Sweden

[5] Univ Alabama Birmingham, Dept Biostat, Sect Stat Genet, Birmingham, AL 35294 USA

[6] Uppsala Univ, Dept Genet & Pathol, Rudbeck Lab, Uppsala Acad Hosp, SE-75185 Uppsala, Sweden

[7] Uppsala Univ, Uppsala Acad Hosp, Dept Surg Sci, SE-75185 Uppsala, Sweden

[8] Vrije Univ Amsterdam, Dept Biol Psychol, NL-1081 BT Amsterdam, Netherlands

[9] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 82卷 / 03期

关键词：

D O I：

10.1016/j.ajhg.2007.12.011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.

引用

页码：763 / 771

页数：9

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