Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11
A polymorphic DNA sequence in the 5'-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 alle...
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Veröffentlicht in: | Diabetologia 1985-04, Vol.28 (4), p.218-222 |
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container_title | Diabetologia |
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description | A polymorphic DNA sequence in the 5'-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 allele. The Class 2 allele was not observed in this group of subjects. Genotype frequencies in a control population (n = 88) were: homozygous 1/1, 42%; heterozygous 1/3, 50%; and homozygous 3/3, 8%. Corresponding genotype frequencies in 53 Type 1 diabetic patients were 79%, 21% and 0%, respectively (p less than 0.0005 from chi 2 test). This confirms prevalence data reported by Bell et al. [16]. There appeared to be no coinheritance with HLA-DR3/DR4 related antigens, nor with autoimmune features. Analysis of 17 Type 1 diabetic pedigrees including 34 diabetic and 69 non-diabetic subjects did not demonstrate genetic linkage of these DNA inserts with diabetes, using an autosomal recessive, single locus model of inheritance. |
doi_str_mv | 10.1007/BF00282236 |
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A ; TARN, A. C ; WINTER, R. M ; DRUMMOND, V ; WILLIAMS, L. G ; JOWETT, N. I ; BOTTAZZO, G. F ; GALTON, D. J</creator><creatorcontrib>HITMAN, G. A ; TARN, A. C ; WINTER, R. M ; DRUMMOND, V ; WILLIAMS, L. G ; JOWETT, N. I ; BOTTAZZO, G. F ; GALTON, D. J</creatorcontrib><description>A polymorphic DNA sequence in the 5'-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 allele. The Class 2 allele was not observed in this group of subjects. Genotype frequencies in a control population (n = 88) were: homozygous 1/1, 42%; heterozygous 1/3, 50%; and homozygous 3/3, 8%. Corresponding genotype frequencies in 53 Type 1 diabetic patients were 79%, 21% and 0%, respectively (p less than 0.0005 from chi 2 test). This confirms prevalence data reported by Bell et al. [16]. There appeared to be no coinheritance with HLA-DR3/DR4 related antigens, nor with autoimmune features. Analysis of 17 Type 1 diabetic pedigrees including 34 diabetic and 69 non-diabetic subjects did not demonstrate genetic linkage of these DNA inserts with diabetes, using an autosomal recessive, single locus model of inheritance.</description><identifier>ISSN: 0012-186X</identifier><identifier>EISSN: 1432-0428</identifier><identifier>DOI: 10.1007/BF00282236</identifier><identifier>PMID: 2991052</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Alleles ; Biological and medical sciences ; Chromosomes, Human, 6-12 and X ; Diabetes Mellitus, Type 1 - genetics ; Diabetes. Impaired glucose tolerance ; DNA Transposable Elements ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Etiopathogenesis. Screening. Investigations. Target tissue resistance ; Female ; Genetic Linkage ; Genotype ; Histocompatibility Antigens Class II - genetics ; HLA-DR Antigens ; Humans ; Insulin - genetics ; Male ; Medical sciences ; Pedigree</subject><ispartof>Diabetologia, 1985-04, Vol.28 (4), p.218-222</ispartof><rights>1986 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c347t-4dbadf690f87dd4c23af20e7dede453fd33a77277937549fdfcdddd7be36403</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8437449$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2991052$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HITMAN, G. A</creatorcontrib><creatorcontrib>TARN, A. C</creatorcontrib><creatorcontrib>WINTER, R. M</creatorcontrib><creatorcontrib>DRUMMOND, V</creatorcontrib><creatorcontrib>WILLIAMS, L. G</creatorcontrib><creatorcontrib>JOWETT, N. I</creatorcontrib><creatorcontrib>BOTTAZZO, G. F</creatorcontrib><creatorcontrib>GALTON, D. J</creatorcontrib><title>Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11</title><title>Diabetologia</title><addtitle>Diabetologia</addtitle><description>A polymorphic DNA sequence in the 5'-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 allele. The Class 2 allele was not observed in this group of subjects. Genotype frequencies in a control population (n = 88) were: homozygous 1/1, 42%; heterozygous 1/3, 50%; and homozygous 3/3, 8%. Corresponding genotype frequencies in 53 Type 1 diabetic patients were 79%, 21% and 0%, respectively (p less than 0.0005 from chi 2 test). This confirms prevalence data reported by Bell et al. [16]. There appeared to be no coinheritance with HLA-DR3/DR4 related antigens, nor with autoimmune features. Analysis of 17 Type 1 diabetic pedigrees including 34 diabetic and 69 non-diabetic subjects did not demonstrate genetic linkage of these DNA inserts with diabetes, using an autosomal recessive, single locus model of inheritance.</description><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, 6-12 and X</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>Diabetes. Impaired glucose tolerance</subject><subject>DNA Transposable Elements</subject><subject>Endocrine pancreas. Apud cells (diseases)</subject><subject>Endocrinopathies</subject><subject>Etiopathogenesis. Screening. Investigations. Target tissue resistance</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Genotype</subject><subject>Histocompatibility Antigens Class II - genetics</subject><subject>HLA-DR Antigens</subject><subject>Humans</subject><subject>Insulin - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pedigree</subject><issn>0012-186X</issn><issn>1432-0428</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkM9LwzAUx4Moc04v3oUcRFSo5tea9qjDqTDw4A7eSpq8bB1pMptW2H9vZWW-y4P3_fB98EHokpIHSoh8fJ4TwjLGeHqExlRwlhDBsmM0JoSyhGbp1yk6i3FDCOFTkY7QiOU5JVM2RpvlbguY4tvKx85VPjGwBW_At3fYVKqEFiJW3mCF19Vq7Xb4RzX93QF2QXcRaxci4Dbgdg14KMEr8ICDx3rdhDrEUPcv6Dk6scpFuBj2BH3OX5azt2Tx8fo-e1okmgvZJsKUytg0JzaTxgjNuLKMgDRgQEy5NZwrKZmUOZdTkVtjtelHlsBTQfgE3exbt0347iC2RV1FDc4pD6GLhUwZpZxnPXi_B3UTYmzAFtumqlWzKygp_rQW_1p7-Gpo7coazAEdPPb59ZCrqJWzjfK6igcsE1wKkfNfg8N_Rg</recordid><startdate>198504</startdate><enddate>198504</enddate><creator>HITMAN, G. A</creator><creator>TARN, A. C</creator><creator>WINTER, R. M</creator><creator>DRUMMOND, V</creator><creator>WILLIAMS, L. G</creator><creator>JOWETT, N. I</creator><creator>BOTTAZZO, G. F</creator><creator>GALTON, D. J</creator><general>Springer</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>198504</creationdate><title>Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11</title><author>HITMAN, G. A ; TARN, A. C ; WINTER, R. M ; DRUMMOND, V ; WILLIAMS, L. G ; JOWETT, N. I ; BOTTAZZO, G. F ; GALTON, D. 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Target tissue resistance</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Genotype</topic><topic>Histocompatibility Antigens Class II - genetics</topic><topic>HLA-DR Antigens</topic><topic>Humans</topic><topic>Insulin - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HITMAN, G. A</creatorcontrib><creatorcontrib>TARN, A. C</creatorcontrib><creatorcontrib>WINTER, R. M</creatorcontrib><creatorcontrib>DRUMMOND, V</creatorcontrib><creatorcontrib>WILLIAMS, L. G</creatorcontrib><creatorcontrib>JOWETT, N. I</creatorcontrib><creatorcontrib>BOTTAZZO, G. F</creatorcontrib><creatorcontrib>GALTON, D. 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J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11</atitle><jtitle>Diabetologia</jtitle><addtitle>Diabetologia</addtitle><date>1985-04</date><risdate>1985</risdate><volume>28</volume><issue>4</issue><spage>218</spage><epage>222</epage><pages>218-222</pages><issn>0012-186X</issn><eissn>1432-0428</eissn><abstract>A polymorphic DNA sequence in the 5'-flanking region of the human insulin gene was studied in relation to Type 1 (insulin-dependent) diabetes. In 141 Caucasoid subjects analysed by Southern blot hybridisation techniques, two major DNA insertions were observed: a Class 1 allele or a Class 3 allele. The Class 2 allele was not observed in this group of subjects. Genotype frequencies in a control population (n = 88) were: homozygous 1/1, 42%; heterozygous 1/3, 50%; and homozygous 3/3, 8%. Corresponding genotype frequencies in 53 Type 1 diabetic patients were 79%, 21% and 0%, respectively (p less than 0.0005 from chi 2 test). This confirms prevalence data reported by Bell et al. [16]. There appeared to be no coinheritance with HLA-DR3/DR4 related antigens, nor with autoimmune features. Analysis of 17 Type 1 diabetic pedigrees including 34 diabetic and 69 non-diabetic subjects did not demonstrate genetic linkage of these DNA inserts with diabetes, using an autosomal recessive, single locus model of inheritance.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>2991052</pmid><doi>10.1007/BF00282236</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Alleles Biological and medical sciences Chromosomes, Human, 6-12 and X Diabetes Mellitus, Type 1 - genetics Diabetes. Impaired glucose tolerance DNA Transposable Elements Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Genetic Linkage Genotype Histocompatibility Antigens Class II - genetics HLA-DR Antigens Humans Insulin - genetics Male Medical sciences Pedigree |
title | Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11 |
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