DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

Stylianos E. Antonarakis, Peter Oettgen, Aravinda Chakravarti, Susan H Blanton, Richard R. Hudson, Lila Feisee, Sotirios K. Karathanasis

Research output: Contribution to journalArticle

55 Citations (Scopus)

Abstract

The genes coding for apolipoproteins A1, C3, and A4 (APOA1, APOC3, APOA4) are closely linked and tandemly organized within a 15-kilobase (kb) DNA segment on the long arm of human chromosome 11. The nucleotide variability of a 61-kb DNA segment containing these genes and their flanking sequences was studied by restriction analysis of a sample of 18 unrelated Northern Europeans using seven different genomic DNA probes. Eleven restriction site polymorphisms located within this DNA segment were used for haplotype analysis of 129 Mediterranean and 67 American black chromosomes. Estimation of the extent of nonrandom association between these polymorphisms indicated considerable linkage disequilibrium within the APOA1-APOC3-APOA4 gene cluster. Several haplotypes arose by recombination, and the rate of recombination within this gene cluster was estimated to be at least 4 times greater than that expected based on uniform recombination. The polymorphism information content of each of these polymorphisms, taken individually, ranges between 0.053 and 0.375, while that of their haplotypes ranges between 0.858 and 0.862. Therefore, DNA polymorphism haplotypes in the APOA1-APOC3-APOA4 gene cluster constitute a highly informative genetic marker on the long arm of human chromosome 11.

Original languageEnglish
Pages (from-to)265-273
Number of pages9
JournalHuman Genetics
Volume80
Issue number3
DOIs
StatePublished - Nov 1 1988
Externally publishedYes

Fingerprint

Apolipoproteins
Multigene Family
Haplotypes
Genetic Recombination
Chromosomes, Human, Pair 11
DNA
Human Chromosomes
Apolipoprotein A-I
Linkage Disequilibrium
DNA Probes
Genetic Markers
Genes
Nucleotides
Chromosomes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Antonarakis, S. E., Oettgen, P., Chakravarti, A., Blanton, S. H., Hudson, R. R., Feisee, L., & Karathanasis, S. K. (1988). DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Human Genetics, 80(3), 265-273. https://doi.org/10.1007/BF01790095

DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. / Antonarakis, Stylianos E.; Oettgen, Peter; Chakravarti, Aravinda; Blanton, Susan H; Hudson, Richard R.; Feisee, Lila; Karathanasis, Sotirios K.

In: Human Genetics, Vol. 80, No. 3, 01.11.1988, p. 265-273.

Research output: Contribution to journalArticle

Antonarakis, SE, Oettgen, P, Chakravarti, A, Blanton, SH, Hudson, RR, Feisee, L & Karathanasis, SK 1988, 'DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster', Human Genetics, vol. 80, no. 3, pp. 265-273. https://doi.org/10.1007/BF01790095
Antonarakis SE, Oettgen P, Chakravarti A, Blanton SH, Hudson RR, Feisee L et al. DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. Human Genetics. 1988 Nov 1;80(3):265-273. https://doi.org/10.1007/BF01790095
Antonarakis, Stylianos E. ; Oettgen, Peter ; Chakravarti, Aravinda ; Blanton, Susan H ; Hudson, Richard R. ; Feisee, Lila ; Karathanasis, Sotirios K. / DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. In: Human Genetics. 1988 ; Vol. 80, No. 3. pp. 265-273.
@article{a4403f6a0d724809b5db3c0f6040c2be,
title = "DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster",
abstract = "The genes coding for apolipoproteins A1, C3, and A4 (APOA1, APOC3, APOA4) are closely linked and tandemly organized within a 15-kilobase (kb) DNA segment on the long arm of human chromosome 11. The nucleotide variability of a 61-kb DNA segment containing these genes and their flanking sequences was studied by restriction analysis of a sample of 18 unrelated Northern Europeans using seven different genomic DNA probes. Eleven restriction site polymorphisms located within this DNA segment were used for haplotype analysis of 129 Mediterranean and 67 American black chromosomes. Estimation of the extent of nonrandom association between these polymorphisms indicated considerable linkage disequilibrium within the APOA1-APOC3-APOA4 gene cluster. Several haplotypes arose by recombination, and the rate of recombination within this gene cluster was estimated to be at least 4 times greater than that expected based on uniform recombination. The polymorphism information content of each of these polymorphisms, taken individually, ranges between 0.053 and 0.375, while that of their haplotypes ranges between 0.858 and 0.862. Therefore, DNA polymorphism haplotypes in the APOA1-APOC3-APOA4 gene cluster constitute a highly informative genetic marker on the long arm of human chromosome 11.",
author = "Antonarakis, {Stylianos E.} and Peter Oettgen and Aravinda Chakravarti and Blanton, {Susan H} and Hudson, {Richard R.} and Lila Feisee and Karathanasis, {Sotirios K.}",
year = "1988",
month = "11",
day = "1",
doi = "10.1007/BF01790095",
language = "English",
volume = "80",
pages = "265--273",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

AU - Antonarakis, Stylianos E.

AU - Oettgen, Peter

AU - Chakravarti, Aravinda

AU - Blanton, Susan H

AU - Hudson, Richard R.

AU - Feisee, Lila

AU - Karathanasis, Sotirios K.

PY - 1988/11/1

Y1 - 1988/11/1

N2 - The genes coding for apolipoproteins A1, C3, and A4 (APOA1, APOC3, APOA4) are closely linked and tandemly organized within a 15-kilobase (kb) DNA segment on the long arm of human chromosome 11. The nucleotide variability of a 61-kb DNA segment containing these genes and their flanking sequences was studied by restriction analysis of a sample of 18 unrelated Northern Europeans using seven different genomic DNA probes. Eleven restriction site polymorphisms located within this DNA segment were used for haplotype analysis of 129 Mediterranean and 67 American black chromosomes. Estimation of the extent of nonrandom association between these polymorphisms indicated considerable linkage disequilibrium within the APOA1-APOC3-APOA4 gene cluster. Several haplotypes arose by recombination, and the rate of recombination within this gene cluster was estimated to be at least 4 times greater than that expected based on uniform recombination. The polymorphism information content of each of these polymorphisms, taken individually, ranges between 0.053 and 0.375, while that of their haplotypes ranges between 0.858 and 0.862. Therefore, DNA polymorphism haplotypes in the APOA1-APOC3-APOA4 gene cluster constitute a highly informative genetic marker on the long arm of human chromosome 11.

AB - The genes coding for apolipoproteins A1, C3, and A4 (APOA1, APOC3, APOA4) are closely linked and tandemly organized within a 15-kilobase (kb) DNA segment on the long arm of human chromosome 11. The nucleotide variability of a 61-kb DNA segment containing these genes and their flanking sequences was studied by restriction analysis of a sample of 18 unrelated Northern Europeans using seven different genomic DNA probes. Eleven restriction site polymorphisms located within this DNA segment were used for haplotype analysis of 129 Mediterranean and 67 American black chromosomes. Estimation of the extent of nonrandom association between these polymorphisms indicated considerable linkage disequilibrium within the APOA1-APOC3-APOA4 gene cluster. Several haplotypes arose by recombination, and the rate of recombination within this gene cluster was estimated to be at least 4 times greater than that expected based on uniform recombination. The polymorphism information content of each of these polymorphisms, taken individually, ranges between 0.053 and 0.375, while that of their haplotypes ranges between 0.858 and 0.862. Therefore, DNA polymorphism haplotypes in the APOA1-APOC3-APOA4 gene cluster constitute a highly informative genetic marker on the long arm of human chromosome 11.

UR - http://www.scopus.com/inward/record.url?scp=0023806703&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023806703&partnerID=8YFLogxK

U2 - 10.1007/BF01790095

DO - 10.1007/BF01790095

M3 - Article

C2 - 2903847

AN - SCOPUS:0023806703

VL - 80

SP - 265

EP - 273

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -