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Abstract

Lipoprotein(a) [Lp(a)], an atherogenic lipoprotein, consists of an LDL particle complexed with a large glycoprotein, apolipoprotein(a) [apo(a)]. Apo(a) is one of the most polymorphic expressed sequences in the human genome. The glycoprotein varies in size over a ∼500 kDa range due to length polymorphisms in the apo(a) gene. The region of the apo(a) gene responsible for this size polymorphism was cloned and characterized. Apo(a) alleles of different length were found to contain varying numbers of a subset of a tandemly-repeated, 5.5 kilobase, kringle IV-encoding sequences. A total of 34 apo(a) alleles and glycoproteins could be distinguished using pulsed-field gel etectrophoresis and genomic blotting and immmunoblotting. Molecular analysis of a newly-generated apo(a) allele of different length suggests that the high degree of length polymorphism is in part due to recombination between sister chromatids.

Original languageEnglish (US)
Pages (from-to)933-940
Number of pages8
JournalHuman Molecular Genetics
Volume2
Issue number7
StatePublished - Jul 1993

Fingerprint

Apoprotein(a)
Polymorphism
Glycoprotein
Extremes
Glycoproteins
Lipoproteins
Genes
Alleles
Gene
Kringles
Lipoprotein(a)
Chromatids
Recombination
Genomics
Human Genome
Genome
Encoding
LDL Lipoproteins
Genetic Recombination
Vary

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Molecular definition of the extreme size polymorphism in apolipoprotein(a). / Lackner, Carolin; Cohen, Jonathan C.; Hobbs, Helen H.

In: Human Molecular Genetics, Vol. 2, No. 7, 07.1993, p. 933-940.

Research output: Contribution to journalArticle

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