A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events.

Kukita, Y ; Yahara, K ; et al.

In: American journal of human genetics, Jg. 86 (2010-06-11), Heft 6, S. 918-28

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The majority of complete hydatidiform moles (CHMs) harbor duplicated haploid genomes that originate from sperm. This makes CHMs more advantageous than conventional diploid cells for determining haplotypes of SNPs and copy-number variations (CNVs), because all of the genetic variants in a CHM genome are homozygous. Here we report SNP and CNV haplotype structures determined by analysis of 100 CHMs from Japanese subjects via high-density DNA arrays. The obtained haplotype map should be useful as a reference for the haplotype structure of Asian populations. We resolved common CNV regions (merged CNV segments across the examined samples) into CNV events (clusters of CNV segments) on the basis of mutual overlap and found that the haplotype backgrounds of different CNV events within the same CNV region were predominantly similar, perhaps because of inherent structural instability.

Titel:	A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events.
Autor/in / Beteiligte Person:	Kukita, Y ; Yahara, K ; Tahira, T ; Higasa, K ; Sonoda, M ; Yamamoto, K ; Kato, K ; Wake, N ; Hayashi, K
Link:	Full Text Finder (Volltext)
Zeitschrift:	American journal of human genetics, Jg. 86 (2010-06-11), Heft 6, S. 918-28
Veröffentlichung:	2008- : [Cambridge, MA] : Cell Press ; <i>Original Publication</i>: Baltimore, American Society of Human Genetics., 2010
Medientyp:	academicJournal
ISSN:	1537-6605 (electronic)
DOI:	10.1016/j.ajhg.2010.05.003
Schlagwort:	Aneuploidy Databases as Topic Female Genotype Haploidy Humans Nucleic Acid Hybridization Polymorphism, Single Nucleotide Pregnancy DNA Copy Number Variations Haplotypes Hydatidiform Mole genetics
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, Non-U.S. Gov't Language: English [Am J Hum Genet] 2010 Jun 11; Vol. 86 (6), pp. 918-28. <i>Date of Electronic Publication: </i>2010 May 27. MeSH Terms: DNA Copy Number Variations* ; Haplotypes* ; Hydatidiform Mole / *genetics ; Aneuploidy ; Databases as Topic ; Female ; Genotype ; Haploidy ; Humans ; Nucleic Acid Hybridization ; Polymorphism, Single Nucleotide ; Pregnancy References: Genome Res. 2005 Nov;15(11):1511-8. (PMID: 16251461) ; Nat Genet. 2008 Oct;40(10):1166-74. (PMID: 18776908) ; Nat Genet. 2008 Oct;40(10):1199-203. (PMID: 18776910) ; Nature. 2008 Oct 16;455(7215):919-23. (PMID: 18923514) ; Genome Res. 2008 Dec;18(12):2016-23. (PMID: 18836033) ; Hum Mol Genet. 2008 Oct 15;17(R2):R135-42. (PMID: 18852202) ; Science. 2004 Jul 23;305(5683):525-8. (PMID: 15273396) ; Clin Genet. 2007 Jan;71(1):25-34. (PMID: 17204043) ; PLoS Genet. 2009 May;5(5):e1000468. (PMID: 19424418) ; Am J Hum Genet. 2005 Jul;77(1):78-88. (PMID: 15918152) ; Nature. 2007 Oct 18;449(7164):851-61. (PMID: 17943122) ; Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. (PMID: 16651370) ; Nature. 2006 Nov 23;444(7118):444-54. (PMID: 17122850) ; Bioinformatics. 2009 May 15;25(10):1223-30. (PMID: 19276152) ; Methods Mol Biol. 2000;132:365-86. (PMID: 10547847) ; Genome Res. 2006 Sep;16(9):1136-48. (PMID: 16899659) ; Nature. 2010 Apr 1;464(7289):704-12. (PMID: 19812545) ; Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16156-61. (PMID: 12461184) ; Nature. 2005 Oct 27;437(7063):1299-320. (PMID: 16255080) ; Genome Res. 2001 Jun;11(6):1005-17. (PMID: 11381028) ; Am J Hum Genet. 2008 Mar;82(3):685-95. (PMID: 18304495) ; Nat Genet. 2006 Mar;38(3):300-2. (PMID: 16462743) ; Methods. 2001 Dec;25(4):402-8. (PMID: 11846609) ; Nat Genet. 2004 Sep;36(9):949-51. (PMID: 15286789) ; Nat Genet. 2008 Oct;40(10):1253-60. (PMID: 18776909) ; Cytogenet Genome Res. 2006;115(3-4):205-14. (PMID: 17124402) Molecular Sequence: GEO GSE18701 Entry Date(s): Date Created: 20100612 Date Completed: 20100629 Latest Revision: 20211020 Update Code: 20231215 PubMed Central ID: PMC3032077

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