Abstract
The length of a segment of DNA associated with the human insulin gene, which has been localized to the short arm of chromosome 11, is heterozygous in 63% of 52 individuals analyzed. This polymorphic region is approximately 500 base pairs from the nucleotide encoding the 5' end of insulin mRNA. The polymorphism appears to be due to an insertion or deletion of DNA sequences so that DNA fragments of different length are generated when DNA from a heterozygous individual is digested with selected restriction endonucleases.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bell G. I., Pictet R. L., Rutter W. J., Cordell B., Tischer E., Goodman H. M. Sequence of the human insulin gene. Nature. 1980 Mar 6;284(5751):26–32. doi: 10.1038/284026a0. [DOI] [PubMed] [Google Scholar]
- Bell G. I., Pictet R., Rutter W. J. Analysis of the regions flanking the human insulin gene and sequence of an Alu family member. Nucleic Acids Res. 1980 Sep 25;8(18):4091–4109. doi: 10.1093/nar/8.18.4091. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
- Calos M. P., Miller J. H. Transposable elements. Cell. 1980 Jul;20(3):579–595. doi: 10.1016/0092-8674(80)90305-0. [DOI] [PubMed] [Google Scholar]
- Cameron J. R., Loh E. Y., Davis R. W. Evidence for transposition of dispersed repetitive DNA families in yeast. Cell. 1979 Apr;16(4):739–751. doi: 10.1016/0092-8674(79)90090-4. [DOI] [PubMed] [Google Scholar]
- Gabbay K. H., Bergenstal R. M., Wolff J., Mako M. E., Rubenstein A. H. Familial hyperproinsulinemia: partial characterization of circulating proinsulin-like material. Proc Natl Acad Sci U S A. 1979 Jun;76(6):2881–2885. doi: 10.1073/pnas.76.6.2881. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gabbay K. H. The insulinopathies. N Engl J Med. 1980 Jan 17;302(3):165–167. doi: 10.1056/NEJM198001173020308. [DOI] [PubMed] [Google Scholar]
- Jeffreys A. J. DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man. Cell. 1979 Sep;18(1):1–10. doi: 10.1016/0092-8674(79)90348-9. [DOI] [PubMed] [Google Scholar]
- Kan Y. W., Dozy A. M. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631–5635. doi: 10.1073/pnas.75.11.5631. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kunkel L. M., Smith K. D., Boyer S. H., Borgaonkar D. S., Wachtel S. S., Miller O. J., Breg W. R., Jones H. W., Jr, Rary J. M. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245–1249. doi: 10.1073/pnas.74.3.1245. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Laskey R. A. The use of intensifying screens or organic scintillators for visualizing radioactive molecules resolved by gel electrophoresis. Methods Enzymol. 1980;65(1):363–371. doi: 10.1016/s0076-6879(80)65047-2. [DOI] [PubMed] [Google Scholar]
- Maniatis T., Fritsch E. F., Lauer J., Lawn R. M. The molecular genetics of human hemoglobins. Annu Rev Genet. 1980;14:145–178. doi: 10.1146/annurev.ge.14.120180.001045. [DOI] [PubMed] [Google Scholar]
- McKusick V. A. The anatomy of the human genome. Am J Med. 1980 Aug;69(2):267–276. doi: 10.1016/0002-9343(80)90388-5. [DOI] [PubMed] [Google Scholar]
- Owerbach D., Bell G. I., Rutter W. J., Brown J. A., Shows T. B. The insulin gene is located on the short arm of chromosome 11 in humans. Diabetes. 1981 Mar;30(3):267–270. doi: 10.2337/diab.30.3.267. [DOI] [PubMed] [Google Scholar]
- Owerbach D., Bell G. I., Rutter W. J., Shows T. B. The insulin gene is located on chromosome 11 in humans. Nature. 1980 Jul 3;286(5768):82–84. doi: 10.1038/286082a0. [DOI] [PubMed] [Google Scholar]
- Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
- Rubin C. M., Houck C. M., Deininger P. L., Friedmann T., Schmid C. W. Partial nucleotide sequence of the 300-nucleotide interspersed repeated human DNA sequences. Nature. 1980 Mar 27;284(5754):372–374. doi: 10.1038/284372a0. [DOI] [PubMed] [Google Scholar]
- Slightom J. L., Blechl A. E., Smithies O. Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell. 1980 Oct;21(3):627–638. doi: 10.1016/0092-8674(80)90426-2. [DOI] [PubMed] [Google Scholar]
- Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
- Strobel E., Dunsmuir P., Rubin G. M. Polymorphisms in the chromosomal locations of elements of the 412, copia and 297 dispersed repeated gene families in Drosophila. Cell. 1979 Jun;17(2):429–439. doi: 10.1016/0092-8674(79)90169-7. [DOI] [PubMed] [Google Scholar]
- Tager H., Given B., Baldwin D., Mako M., Markese J., Rubenstein A., Olefsky J., Kobayashi M., Kolterman O., Poucher R. A structurally abnormal insulin causing human diabetes. Nature. 1979 Sep 13;281(5727):122–125. doi: 10.1038/281122a0. [DOI] [PubMed] [Google Scholar]
- Ullrich A., Dull T. J., Gray A., Brosius J., Sures I. Genetic variation in the human insulin gene. Science. 1980 Aug 1;209(4456):612–615. doi: 10.1126/science.6248962. [DOI] [PubMed] [Google Scholar]
- Wahl G. M., Stern M., Stark G. R. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxymethyl-paper and rapid hybridization by using dextran sulfate. Proc Natl Acad Sci U S A. 1979 Aug;76(8):3683–3687. doi: 10.1073/pnas.76.8.3683. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Wu J. C., Manuelidis L. Sequence definition and organization of a human repeated DNA. J Mol Biol. 1980 Sep 25;142(3):363–386. doi: 10.1016/0022-2836(80)90277-6. [DOI] [PubMed] [Google Scholar]
- Wyman A. R., White R. A highly polymorphic locus in human DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6754–6758. doi: 10.1073/pnas.77.11.6754. [DOI] [PMC free article] [PubMed] [Google Scholar]