title: Linkage of the apo CIII microsatellite with isolated low high-density lipoprotein cholesterol.
abstract: To evaluate whether a highly polymorphic microsatellite region within intron 3 of the apolipoprotein (apo) CIII gene is linked to the isolated low HDL-C phenotype, we studied eight unrelated probands (mean HDL-C = 10+/-5 mg/dl) and 157 biological family members. After PCR amplification of genomic DNA and denaturing polyacrylamide gel electrophoresis, 26 alleles were identified in this microsatellite including 9 alleles heretofore unreported. Quantitative sib-pair linkage analysis demonstrated strong evidence of linkage between the isolated low HDL-C phenotype and the apo CIII microsatellite region (P = 0.007). The microsatellite was also linked to apo AI (P = 0.001), the primary apolipoprotein of HDL-C. Therefore, this highly polymorphic microsatellite region is a potentially important marker in the genetic evaluation of the isolated low HDL-C phenotype.
authors.affiliation: Baltimore Veterans Affairs Medical Center, MD 21201, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Devlin
authors.forename: V L
authors.initials: VL
authors.lastname: Prenger
authors.forename: M
authors.initials: M
authors.lastname: Miller
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D053305:Apolipoprotein C-III; D001056:Apolipoproteins C / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D008076:Cholesterol, HDL / Q000097:blood*; D004247:DNA / Q000097:blood; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016555:Matched-Pair Analysis; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D009679:Nuclear Family; D010375:Pedigree; D018709:Statistics, Nonparametric
chemical_list: D053305:Apolipoprotein C-III; D001056:Apolipoproteins C; D008076:Cholesterol, HDL; D004247:DNA