Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism

Journal Article · Sat Feb 01 00:00:00 EST 1986 · Proc. Natl. Acad. Sci. U.S.A.; (United States)

DOI:https://doi.org/10.1073/pnas.83.3.644· OSTI ID:6220243

Huang, L; Miller, D A; Bruns, G A.P.; Breslow, J L

ApoB is a large glycoprotein with an apparent molecular mass of 550 kDa on NaDodSO/sub 4//PAGE. Recently, apoB cDNA clones have been isolated from an expression library made with mRNA from a human hepatoma cell line. These clones, which were all 1.5-1.6 kilobases (kb) long and corresponded to the 3' end of apoB mRNA, were used to demonstrate that hepatic apoB mRNA is approx. = 22 kb long. In the current report, a probe derived from one of these cDNA clones, pB8, was used for in situ hybridization experiments to map the human gene for apoB, APOB, to the distal half of the short arm of chromosome 2. This probe was also used to analyze somatic cell hybrids and, in agreement with the in situ hybridization studies, concordancy was demonstrated with chromosome 2. In addition, two hybrids with chromosome 2 translocations that contain only the short arm reacted with the pB8 probe. A third hybrid with a complex rearrangement of chromosome 2, which deleted an interstitial region and the tip of the short arm of chromosome 2, did not react. These data indicate that APOB maps to either 2p21-p23 or 2p24-pter. In further studies, DNA from normal individuals, digested with the restriction endonuclease EcoRI and subjected to Southern blot analysis with the pB8 probe, revealed a two-allele restriction fragment length polymorphism (RFLP). The mapping studies provide the means for understanding the relationship of the APOB locus to others in the human genome, whereas the demonstration of an APOB RFLP increases their ability to assess the role of this locus in determining plasma lipoprotein levels.

• Research Organization: Rockefeller Univ., New York, NY
• OSTI ID: 6220243
• Journal Information: Proc. Natl. Acad. Sci. U.S.A.; (United States), Vol. 83:3
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
APOLIPOPROTEINS
GENETICS
RECOMBINANT DNA
HYBRIDIZATION
TRITIUM COMPOUNDS
CHROMOSOMES
GENES
GENETIC MAPPING
MAN
MESSENGER-RNA
NUCLEOTIDES
ANIMALS
BIOLOGY
DNA
LABELLED COMPOUNDS
LIPIDS
LIPOPROTEINS
MAMMALS
MAPPING
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PRIMATES
PROTEINS
RNA
VERTEBRATES
550401* - Genetics- Tracer Techniques