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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Authors: | Yong Sung Kim Myoung Hee Kim Young Kil Choi Cheorl-Ho Kim Dae-Sil Lee |
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Affiliation: | (1) Molecular Biology Laboratory, Genetic Engineering Research Institute, KIST, Taedok Science Town, P.O. Box 115, 305-600 Yusung-Ku, Taejon, Korea;(2) Department of Internal Medicine, School of Medicine, Kyung Hee University, Seoul, Korea |
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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 +1380 in the non-coding regions, were found to be polymorphic. In addition to the previously identified polymorphic alleles l (A-C-C-C) and 1 (T-G-T-A), new nucleotide arrangements were also identified and designated 4 (A-C-C-A), 5 (A-G-C-C), 6 (A-C-T-C), and 2 (T-C-C-C). It was concluded that the new alleles may originate by intragenic recombination within INS during chromosomal crossing-over between the 1 and 1 alleles. The allele 1 was the predominant form in our sample; the new variant alleles, as well as allele 1, 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. |
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Keywords: | Allelic divergence Human insulin gene Intragenic recombination Non-coding regions |
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