Allelic divergence in the human insulin gene provides evidence for intragenic recombination events in the non-coding regions : evidence for existence of new alleles

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Title
Allelic divergence in the human insulin gene provides evidence for intragenic recombination events in the non-coding regions : evidence for existence of new alleles
Author(s)
Yong Sung Kim; Myoung Hee Kim; Young Kil Choi; Cheorl Ho Kim; Dae Sil Lee
Bibliographic Citation
Molecular Genetics and Genomics, vol. 245, pp. 146-151
Publication Year
1994
Abstract
Intragenic polymorphism of the human insulin gene (INS) was investigated in Korean subjects. The 1.9 kb INS sequence, including the 5' to 3' flanking regions, was amplified using the polymerase chain reaction (PCR), and analyzed by direct sequencing. All nucleotide sequences in the coding regions were the same as INS sequences previously reported, and four nucleotides, at positions +216, +1045, +1367, and +1350 in the non-coding regions, were found to be polymorphic. In addition to the previously identified polymorphic alleles α1 (A-C-C-C) and β1 (T-G-T-A), new nucleotide arrangements were also identified and designated α4 (A-C-C-A), α5 (A-G-C-C), α6 (A-C-T-CI), and β2 (T-C-C-C). It was concluded that the new alleles may originate by intragenic recombination within INS during chromosomal crossing-over between the α1 and β1 alleles. The allele α1 was the predominant form in our sample; the new variant alleles, as well as allele β1, appeared to be much less frequent in INSs genes of the Korean subjects studied. Furthermore, the new alleles were detected only in heterozygous form. These results suggest that intragenic recombination can account for allelic divergence in INS.
Keyword
Human insulin geneIntragenic recombinationNon-coding regionsAllelic divergence
ISSN
0026-8925
Publisher
Springer
DOI
http://dx.doi.org/10.1007/BF00283261
Type
Article
Appears in Collections:
1. Journal Articles > Journal Articles
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