Single Nucleotide Polymorphisms of a 16 kb Region on Human Chromosome 11p15.5 that Includes the H19 Gene
Genomics & Informatics
;
: 74-79, 2005.
Artículo
en Inglés
| WPRIM
| ID: wpr-62314
ABSTRACT
The H19 gene, located at human chromosome 11p15.5, is imprinted in most normal human tissues. However, imprinting is often lost in tumors suggesting H19 is a putative tumor suppressor. We analyzed the single nucleotide polymorphisms (SNPs) of a 16 kb region that includes the H19 gene and its imprinting control region (ICR) in the Korean population. To identify SNPs, we directly sequenced this region in 18 Korean subjects. We identified 64 SNPs, of which 7 were in the exons of H19, 2 were in the introns, 14 were in the 3' intergenic region and 41 were in the 5' intergenic region. Of the 64 SNPs, 21 had not previously been reported and thus appear to be unique to the Korean population. The identified SNPs of H19 in the Korean population may eventually be useful as genetic markers associated with various diseases. In this study, 7 of the 64 identified SNPs were at CTCF binding sites in the ICR and may affect regulation of H19 gene imprinting. Thus, several genetic variations of the H19 gene may be important markers in human diseases that involve genomic imprinting, including cancer.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Variación Genética
/
Sitios de Unión
/
Haplotipos
/
Intrones
/
Marcadores Genéticos
/
Exones
/
Cromosomas Humanos
/
Impresión Genómica
/
Polimorfismo de Nucleótido Simple
/
ADN Intergénico
Límite:
Humanos
Idioma:
Inglés
Revista:
Genomics & Informatics
Año:
2005
Tipo del documento:
Artículo
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