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Identification and characterization of polymorphisms at the HSA alpha1-acid glycoprotein (ORM*) gene locus in Caucasians
Owczarek, Catherine M; Owczarek, Aleksander L; Board, Philip G.
  • Owczarek, Catherine M; Monash University. Monash Institute of Reproduction and Development. Centre for Functional Genomics and Human Disease. Melbourne. AU
  • Owczarek, Aleksander L; University of Melbourne. Department of Mathematics and Statistics. Parkville. AU
  • Board, Philip G; John Curtin School of Medical. Molecular Genetics Group. AU
Genet. mol. biol ; 25(1): 13-19, 2002. ilus, tab
Artículo en Inglés | LILACS | ID: lil-324980
ABSTRACT
Human alpha1-acid glycoprotein (AGP) or orosomucoid (ORM) is a major acute phase protein that is thought to play a crucial role in maintaining homeostasis. Human AGP is the product of a cluster of at least two adjacent genes located on HSA chromosome 9. Using a range of restriction endonucleases we have investigated DNA variation at the locus encoding the AGP genes in a panel of healthy Caucasians. Polymorphisms were identified using BamHI, EcoRI, BglII, PvuII, HindIII, TaqI and MspI. Non-random associations were found between the BamHI, EcoRI, BglII RFLPs. The RFLPs detected with PvuII, TaqI and MspI were all located in exon 6 of both AGP genes. The duplication of an AGP gene was observed in 11 percent of the indiviuals studied and was in linkage disequilibrium with the TaqI RFLP. The identification and characterization of these polymorphisms will prove useful for other population and forensic studies
Asunto(s)
Texto completo: Disponible Índice: LILACS (Américas) Asunto principal: Polimorfismo Genético / Orosomucoide Tipo de estudio: Estudio diagnóstico Límite: Animales / Humanos Idioma: Inglés Revista: Genet. mol. biol Asunto de la revista: Genética Año: 2002 Tipo del documento: Artículo País de afiliación: Australia Institución/País de afiliación: John Curtin School of Medical/AU / Monash University/AU / University of Melbourne/AU

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Texto completo: Disponible Índice: LILACS (Américas) Asunto principal: Polimorfismo Genético / Orosomucoide Tipo de estudio: Estudio diagnóstico Límite: Animales / Humanos Idioma: Inglés Revista: Genet. mol. biol Asunto de la revista: Genética Año: 2002 Tipo del documento: Artículo País de afiliación: Australia Institución/País de afiliación: John Curtin School of Medical/AU / Monash University/AU / University of Melbourne/AU