ISSN:
1617-4623
Keywords:
Allelic divergence
;
Human insulin gene
;
Intragenic recombination
;
Non-coding regions
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
Notes:
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 αl (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-C), 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00283261
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