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Title: Characterization of the COL2A1 VNTR polymorphism

Abstract

The variable number of tandem repeat (VNTR) region 3{prime} to the collagen type II gene (COL2A1) was amplified in vitro by the polymerase chain reaction. Subsequent high-resolution gel electrophoresis showed that the five earlier reported alleles could be further subtyped. A total of 17 allelic variants with a heterozygosity of 73.0% were found in 202 unrelated Norwegians. DNA sequencing of 19 COL2A1 alleles has been performed. The internal organization of the VNTR was common for all alleles, as previously shown for a few alleles. Moreover, the polymorphism in the COL2A1 locus is mainly due to variation in the numbers of copies of two repeat units, containing 34 and 31 bp, respectively, and/or to small deletions in either of the two units. DNA sequencing of alleles with the same electrophoretic size revealed no heterogeneity such as an alternating order of the different units, a feature that might have been expected to be the result of unequal crossing-over events. The observed ordered structure of the VNTR and the possibility of single-stranded DNA from the cores in the VNTR forming hairpins and loops suggest that the COL2A1 polymorphism may have evolved mainly by replication slippage mechanisms. 23 refs., 2 figs., 3 tabs.

Authors:
;  [1]
  1. Univ. of Oslo (Norway)
Publication Date:
OSTI Identifier:
28963
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 16; Journal Issue: 2; Other Information: PBD: May 1993
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; COLLAGEN; GENES; DNA SEQUENCING; GENE MUTATIONS

Citation Formats

Berg, E S, and Olaisen, B. Characterization of the COL2A1 VNTR polymorphism. United States: N. p., 1993. Web. doi:10.1006/geno.1993.1196.
Berg, E S, & Olaisen, B. Characterization of the COL2A1 VNTR polymorphism. United States. https://doi.org/10.1006/geno.1993.1196
Berg, E S, and Olaisen, B. 1993. "Characterization of the COL2A1 VNTR polymorphism". United States. https://doi.org/10.1006/geno.1993.1196.
@article{osti_28963,
title = {Characterization of the COL2A1 VNTR polymorphism},
author = {Berg, E S and Olaisen, B},
abstractNote = {The variable number of tandem repeat (VNTR) region 3{prime} to the collagen type II gene (COL2A1) was amplified in vitro by the polymerase chain reaction. Subsequent high-resolution gel electrophoresis showed that the five earlier reported alleles could be further subtyped. A total of 17 allelic variants with a heterozygosity of 73.0% were found in 202 unrelated Norwegians. DNA sequencing of 19 COL2A1 alleles has been performed. The internal organization of the VNTR was common for all alleles, as previously shown for a few alleles. Moreover, the polymorphism in the COL2A1 locus is mainly due to variation in the numbers of copies of two repeat units, containing 34 and 31 bp, respectively, and/or to small deletions in either of the two units. DNA sequencing of alleles with the same electrophoretic size revealed no heterogeneity such as an alternating order of the different units, a feature that might have been expected to be the result of unequal crossing-over events. The observed ordered structure of the VNTR and the possibility of single-stranded DNA from the cores in the VNTR forming hairpins and loops suggest that the COL2A1 polymorphism may have evolved mainly by replication slippage mechanisms. 23 refs., 2 figs., 3 tabs.},
doi = {10.1006/geno.1993.1196},
url = {https://www.osti.gov/biblio/28963}, journal = {Genomics},
number = 2,
volume = 16,
place = {United States},
year = {Sat May 01 00:00:00 EDT 1993},
month = {Sat May 01 00:00:00 EDT 1993}
}