Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young
O'Rahilly, S. ; Trembath, R. C. ; Patel, P. ; Galton, D. J. ; Turner, R. C. ; Wainscoat, J. S.
Springer
Published 1988
Springer
Published 1988
| ISSN: |
1432-0428
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|---|---|
| Keywords: |
Genetics ; Type 2 (non-insulin-dependent) diabetes ; insulin receptor ; linkage analysis ; maturity onset diabetes of the young
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Summary The possibility of linkage between the human insulin receptor gene locus and diabetes was examined in three Type 2 (non-insulin-dependent) diabetic families and one family with maturity onset diabetes of the young. Insulin receptor gene haplotypes were established using BglII, Rsal and Sstl restriction enzyme digests of genomic DNA from all available family members. The digested DNA was subjected to agarose gel electrophoresis, Southern blotted, and hybridised to 32P-labelled human insulin receptor gene cDNA. In the pedigree with maturity onset diabetes of the young, formal linkage analysis allowed exclusion of close linkage between the insulin receptor locus and diabetes (logarithm of the odds for linkage versus non-linkage was −5.35 at recombination fraction of 0.01). This confirms the absence of linkage between insulin receptor and diabetes which has been reported in two similar pedigrees. In the three Type 2 diabetic families there were a minimum of 4 recombinants between the insulin receptor locus and diabetes, which makes a direct role for insulin receptor defects unlikely. The importance of using realistic estimates of penetrance when performing linkage analysis in a disease with a late age of onset is emphasised. In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sstl Sl(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295378802507777 |
|---|---|
| autor | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. |
| autorsonst | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. |
| book_url | http://dx.doi.org/10.1007/BF00277479 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM199914907 |
| iqvoc_descriptor_keyword | iqvoc_00000708:analysis |
| iqvoc_descriptor_title | iqvoc_00000708:analysis |
| issn | 1432-0428 |
| journal_name | Diabetologia |
| materialart | 1 |
| notes | Summary The possibility of linkage between the human insulin receptor gene locus and diabetes was examined in three Type 2 (non-insulin-dependent) diabetic families and one family with maturity onset diabetes of the young. Insulin receptor gene haplotypes were established using BglII, Rsal and Sstl restriction enzyme digests of genomic DNA from all available family members. The digested DNA was subjected to agarose gel electrophoresis, Southern blotted, and hybridised to 32P-labelled human insulin receptor gene cDNA. In the pedigree with maturity onset diabetes of the young, formal linkage analysis allowed exclusion of close linkage between the insulin receptor locus and diabetes (logarithm of the odds for linkage versus non-linkage was −5.35 at recombination fraction of 0.01). This confirms the absence of linkage between insulin receptor and diabetes which has been reported in two similar pedigrees. In the three Type 2 diabetic families there were a minimum of 4 recombinants between the insulin receptor locus and diabetes, which makes a direct role for insulin receptor defects unlikely. The importance of using realistic estimates of penetrance when performing linkage analysis in a disease with a late age of onset is emphasised. In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sstl Sl(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families. |
| package_name | Springer |
| publikationsjahr_anzeige | 1988 |
| publikationsjahr_facette | 1988 |
| publikationsjahr_intervall | 8014:1985-1989 |
| publikationsjahr_sort | 1988 |
| publisher | Springer |
| reference | 31 (1988), S. 792-797 |
| schlagwort | Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young |
| search_space | articles |
| shingle_author_1 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. |
| shingle_author_2 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. |
| shingle_author_3 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. |
| shingle_author_4 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. |
| shingle_catch_all_1 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Summary The possibility of linkage between the human insulin receptor gene locus and diabetes was examined in three Type 2 (non-insulin-dependent) diabetic families and one family with maturity onset diabetes of the young. Insulin receptor gene haplotypes were established using BglII, Rsal and Sstl restriction enzyme digests of genomic DNA from all available family members. The digested DNA was subjected to agarose gel electrophoresis, Southern blotted, and hybridised to 32P-labelled human insulin receptor gene cDNA. In the pedigree with maturity onset diabetes of the young, formal linkage analysis allowed exclusion of close linkage between the insulin receptor locus and diabetes (logarithm of the odds for linkage versus non-linkage was −5.35 at recombination fraction of 0.01). This confirms the absence of linkage between insulin receptor and diabetes which has been reported in two similar pedigrees. In the three Type 2 diabetic families there were a minimum of 4 recombinants between the insulin receptor locus and diabetes, which makes a direct role for insulin receptor defects unlikely. The importance of using realistic estimates of penetrance when performing linkage analysis in a disease with a late age of onset is emphasised. In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sstl Sl(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families. 1432-0428 14320428 Springer |
| shingle_catch_all_2 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Summary The possibility of linkage between the human insulin receptor gene locus and diabetes was examined in three Type 2 (non-insulin-dependent) diabetic families and one family with maturity onset diabetes of the young. Insulin receptor gene haplotypes were established using BglII, Rsal and Sstl restriction enzyme digests of genomic DNA from all available family members. The digested DNA was subjected to agarose gel electrophoresis, Southern blotted, and hybridised to 32P-labelled human insulin receptor gene cDNA. In the pedigree with maturity onset diabetes of the young, formal linkage analysis allowed exclusion of close linkage between the insulin receptor locus and diabetes (logarithm of the odds for linkage versus non-linkage was −5.35 at recombination fraction of 0.01). This confirms the absence of linkage between insulin receptor and diabetes which has been reported in two similar pedigrees. In the three Type 2 diabetic families there were a minimum of 4 recombinants between the insulin receptor locus and diabetes, which makes a direct role for insulin receptor defects unlikely. The importance of using realistic estimates of penetrance when performing linkage analysis in a disease with a late age of onset is emphasised. In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sstl Sl(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families. 1432-0428 14320428 Springer |
| shingle_catch_all_3 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Summary The possibility of linkage between the human insulin receptor gene locus and diabetes was examined in three Type 2 (non-insulin-dependent) diabetic families and one family with maturity onset diabetes of the young. Insulin receptor gene haplotypes were established using BglII, Rsal and Sstl restriction enzyme digests of genomic DNA from all available family members. The digested DNA was subjected to agarose gel electrophoresis, Southern blotted, and hybridised to 32P-labelled human insulin receptor gene cDNA. In the pedigree with maturity onset diabetes of the young, formal linkage analysis allowed exclusion of close linkage between the insulin receptor locus and diabetes (logarithm of the odds for linkage versus non-linkage was −5.35 at recombination fraction of 0.01). This confirms the absence of linkage between insulin receptor and diabetes which has been reported in two similar pedigrees. In the three Type 2 diabetic families there were a minimum of 4 recombinants between the insulin receptor locus and diabetes, which makes a direct role for insulin receptor defects unlikely. The importance of using realistic estimates of penetrance when performing linkage analysis in a disease with a late age of onset is emphasised. In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sstl Sl(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families. 1432-0428 14320428 Springer |
| shingle_catch_all_4 | O'Rahilly, S. Trembath, R. C. Patel, P. Galton, D. J. Turner, R. C. Wainscoat, J. S. Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Genetics Type 2 (non-insulin-dependent) diabetes insulin receptor linkage analysis maturity onset diabetes of the young Summary The possibility of linkage between the human insulin receptor gene locus and diabetes was examined in three Type 2 (non-insulin-dependent) diabetic families and one family with maturity onset diabetes of the young. Insulin receptor gene haplotypes were established using BglII, Rsal and Sstl restriction enzyme digests of genomic DNA from all available family members. The digested DNA was subjected to agarose gel electrophoresis, Southern blotted, and hybridised to 32P-labelled human insulin receptor gene cDNA. In the pedigree with maturity onset diabetes of the young, formal linkage analysis allowed exclusion of close linkage between the insulin receptor locus and diabetes (logarithm of the odds for linkage versus non-linkage was −5.35 at recombination fraction of 0.01). This confirms the absence of linkage between insulin receptor and diabetes which has been reported in two similar pedigrees. In the three Type 2 diabetic families there were a minimum of 4 recombinants between the insulin receptor locus and diabetes, which makes a direct role for insulin receptor defects unlikely. The importance of using realistic estimates of penetrance when performing linkage analysis in a disease with a late age of onset is emphasised. In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sstl Sl(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families. 1432-0428 14320428 Springer |
| shingle_title_1 | Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young |
| shingle_title_2 | Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young |
| shingle_title_3 | Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young |
| shingle_title_4 | Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:35:15.973Z |
| titel | Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young |
| titel_suche | Linkage analysis of the human insulin receptor gene in Type 2 (non-insulin-dependent) diabetic families and a family with maturity onset diabetes of the young |
| topic | WW-YZ |
| uid | nat_lic_papers_NLM199914907 |