Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.

Autor: Nina Bosch, Marta Morell, Immaculada Ponsa, Josep Maria Mercader, Lluís Armengol, Xavier Estivill
Jazyk: angličtina
Rok vydání: 2009
Předmět:
Zdroj: PLoS ONE, Vol 4, Iss 12, p e8269 (2009)
Druh dokumentu: article
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0008269
Popis: BACKGROUND:The human chromosome 8p23.1 region contains a 3.8-4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals. RESULTS:We have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (p
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