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PMID: 1679033 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

DNA haplotype analysis suggests linkage disequilibrium in the human insulin receptor gene.

Human genetics ·Vol. 87 ·No. 4 ·1991-08-00 ·Pages 469-74

Sten-Linder M, Olsson M, Iselius L, Efendić S, Luthman H

Abstract

Haplotypes of the insulin receptor gene were resolved in parents from Scandinavian nuclear families by studying the segregation of seven restriction fragment length polymorphisms (RFLPs). Of 97 unrelated parents, 41 had non-insulin-dependent diabetes mellitus (NIDDM). Considerable linkage disequilibrium in the region of the insulin receptor gene was found. Pairwise non-random associations were found between proximate RFLP sites, indicating the absence of recombinational hot spots between these sites. Thus, association studies between DNA polymorphisms at this locus and disease susceptibility genes could well be feasible in this population. Differences in the distribution of insulin receptor haplotypes were examined between NIDDM patients and healthy subjects. However, the differences observed were not statistically significant.

MeSH Terms
Adult Aged DNA/genetics Diabetes Mellitus, Type 2/genetics Female Haplotypes Humans Linkage Disequilibrium Male Middle Aged Polymorphism, Restriction Fragment Length Receptor, Insulin/genetics Reference Values Restriction Mapping
Chemicals
DNA Receptor, Insulin
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Sten-Linder M
Department of Clinical Genetics, Karolinska Institute, Karolinska Hospital, Stockholm, Sweden.
Olsson M
Iselius L
Efendić S
Luthman H
References (29)
29 references, click to expand
  1. Three RFLPs for the insulin receptor gene INSR: EcoRI, Pst I, Hind III.
    Nucleic Acids Res. 1986 Aug 26;14(16):6776 PMID: 3018678
  2. Structure of the human insulin receptor gene and characterization of its promoter.
    Proc Natl Acad Sci U S A. 1989 Jan;86(1):114-8 PMID: 2911561
  3. Type II diabetes mellitus and polymorphism of insulin-receptor gene in Mexican Americans.
    Diabetes. 1989 Aug;38(8):975-80 PMID: 2568958
  4. Polymorphic DNA region adjacent to the 5' end of the human insulin gene.
    Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759-63 PMID: 6272317
  5. Mutations in insulin-receptor gene in insulin-resistant patients.
    Diabetes Care. 1990 Mar;13(3):257-79 PMID: 1968373
  6. Evidence for increased recombination near the human insulin gene: implication for disease association studies.
    Proc Natl Acad Sci U S A. 1986 Feb;83(4):1045-9 PMID: 3006026
  7. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.
    Hum Genet. 1987 May;76(1):40-6 PMID: 2883110
  8. Linkage disequilibrium between DNA markers at the low-density lipoprotein receptor gene.
    Genet Epidemiol. 1990;7(1):69-81 PMID: 1970320
  9. Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II.
    Am J Hum Genet. 1988 Oct;43(4):495-501 PMID: 2902788
  10. Impaired glucose tolerance as a disorder of insulin action. Longitudinal and cross-sectional studies in Pima Indians.
    N Engl J Med. 1988 May 12;318(19):1217-25 PMID: 3283552
  11. Rsa1 polymorphism at the insulin receptor locus (INSR) on chromosome 19.
    Nucleic Acids Res. 1985 Dec 9;13(23):8661 PMID: 3001646
  12. Multiple restriction fragment length polymorphisms at the insulin receptor locus: a highly informative marker for linkage analysis.
    Proc Natl Acad Sci U S A. 1986 Jul;83(14):5223-7 PMID: 3014538
  13. Restriction-fragment-length polymorphism in insulin-receptor gene and insulin resistance in NIDDM.
    Diabetes. 1988 Aug;37(8):1071-5 PMID: 2899037
  14. Mechanisms of insulin resistance in non-insulin-dependent (type II) diabetes.
    Am J Med. 1985 Sep 20;79(3B):12-22 PMID: 3901744
  15. The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models.
    Genetics. 1964 Jan;49(1):49-67 PMID: 17248194
  16. Nonuniform recombination within the human beta-globin gene cluster.
    Am J Hum Genet. 1984 Nov;36(6):1239-58 PMID: 6097112
  17. Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.
    Proc Natl Acad Sci U S A. 1984 Oct;81(19):6085-9 PMID: 6091133
  18. DNA polymorphisms of the insulin receptor gene in Japanese subjects with non-insulin-dependent diabetes mellitus.
    Hum Hered. 1988;38(5):273-6 PMID: 2906902
  19. Linkage disequilibria between pairs of loci within a highly polymorphic region of chromosome 2Q.
    Am J Hum Genet. 1986 Aug;39(2):166-78 PMID: 3019131
  20. Restriction fragment length polymorphism (RFLP) of the human insulin receptor gene in Japanese: its possible usefulness as a genetic marker.
    Diabetologia. 1986 Sep;29(9):667-9 PMID: 2878850
  21. Insulin-receptor and apolipoprotein genes contribute to development of NIDDM in Chinese Americans.
    Diabetes. 1989 Jan;38(1):17-23 PMID: 2562831
  22. Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction.
    Diabetes. 1990 Jan;39(1):123-8 PMID: 2210055
  23. Gametic disequilibrium measures: proceed with caution.
    Genetics. 1987 Oct;117(2):331-41 PMID: 3666445
  24. Molecular and clinical characterization of an insertional polymorphism of the insulin-receptor gene.
    Diabetes. 1989 Jun;38(6):737-43 PMID: 2566545
  25. The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.
    Am J Hum Genet. 1988 Jan;42(1):113-24 PMID: 2892394
  26. Human insulin receptor RFLPs detected by HindIII and DraI.
    Nucleic Acids Res. 1989 Feb 11;17(3):1277 PMID: 2564186
  27. A strategy for using multiple linked markers for genetic counseling.
    Am J Hum Genet. 1985 Sep;37(5):984-97 PMID: 2996337
  28. Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.
    Am J Hum Genet. 1988 Jul;43(1):23-8 PMID: 2897786
  29. Screening for insulin receptor gene DNA polymorphisms associated with glucose intolerance in a Scandinavian population.
    Diabetologia. 1991 Apr;34(4):265-70 PMID: 1676686
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00197171
Published
1991-08-00
Pages
469-74
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00197171 View journal details
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