New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia

Autor: Groenendijk, M., Cantor, R. M., de Bruin, T. W., Dallinga-Thie, G. M.
Přispěvatelé: Other departments
Jazyk: angličtina
Rok vydání: 2001
Předmět:
Zdroj: Journal of lipid research, 42(2), 188-194. American Society for Biochemistry and Molecular Biology Inc.
ISSN: 0022-2275
Popis: Linkage and association between the apolipoprotein (apo) A-I/C-III/A-IV gene region on chromosome 11 and familial combined hyperlipidemia (FCHL) has been observed previously. Using sequence analysis two new allelic variants were identified, C(317) -T in intron 2 of the apoA-I gene and C(1100)-T in exon 3 of the apoC-III gene. These variants were studied in 30 FCHL probands, 159 hyperlipidemic relatives, 327 normolipidemic relatives, and 218 spouses. The allele frequencies of both variants were significantly different in probands and spouses (P
Databáze: OpenAIRE