Non-allelic heterogeneity of familial adenomatous polyposis
Linkage studies on familial adenomatous polyposis (FAP) reported so far suggest that FAP is a genetically homogeneous disease. Recently, we found that the putative gene for Turcot syndrome, an apparently autosomal recessive clinical variant of FAP, is not allelic to FAP. Here we describe another fam...
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| Veröffentlicht in: | American journal of medical genetics 1993-09, Vol.47 (4), p.563-567 |
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| container_end_page | 567 |
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| container_title | American journal of medical genetics |
| container_volume | 47 |
| creator | Tops, Carli M. J. Van Der Klift, Heleen M. Van Der Luijt, Rob B. Griffioen, Gerrit Taal, Babs G. Vasen, Hans F. A. Khan, P. Meera |
| description | Linkage studies on familial adenomatous polyposis (FAP) reported so far suggest that FAP is a genetically homogeneous disease. Recently, we found that the putative gene for Turcot syndrome, an apparently autosomal recessive clinical variant of FAP, is not allelic to FAP. Here we describe another family, segregating for an autosomal dominant disease clinically indistinguishable from FAP but genetically not linked to the APC locus, adding further evidence for the occurrence of non‐allelic heterogeneity of FA. These observations have implications to the linkage‐based genetic counselling of persons at risk for FAP especially when they are drawn from small families giving insufficient information. © 1993 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320470425 |
| format | Article |
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These observations have implications to the linkage‐based genetic counselling of persons at risk for FAP especially when they are drawn from small families giving insufficient information. © 1993 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320470425</identifier><identifier>PMID: 8256823</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>adenomatous polyposis coli ; Adenomatous Polyposis Coli - diagnostic imaging ; Adenomatous Polyposis Coli - genetics ; Alleles ; Biological and medical sciences ; familial adenomatous polyposis ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Genetic Linkage ; Humans ; linkage analysis ; Male ; Medical sciences ; non-allelic heterogeneity ; Pedigree ; Radiography ; Stomach. Duodenum. Small intestine. Colon. Rectum. 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J.</creatorcontrib><creatorcontrib>Van Der Klift, Heleen M.</creatorcontrib><creatorcontrib>Van Der Luijt, Rob B.</creatorcontrib><creatorcontrib>Griffioen, Gerrit</creatorcontrib><creatorcontrib>Taal, Babs G.</creatorcontrib><creatorcontrib>Vasen, Hans F. A.</creatorcontrib><creatorcontrib>Khan, P. Meera</creatorcontrib><title>Non-allelic heterogeneity of familial adenomatous polyposis</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Linkage studies on familial adenomatous polyposis (FAP) reported so far suggest that FAP is a genetically homogeneous disease. Recently, we found that the putative gene for Turcot syndrome, an apparently autosomal recessive clinical variant of FAP, is not allelic to FAP. Here we describe another family, segregating for an autosomal dominant disease clinically indistinguishable from FAP but genetically not linked to the APC locus, adding further evidence for the occurrence of non‐allelic heterogeneity of FA. These observations have implications to the linkage‐based genetic counselling of persons at risk for FAP especially when they are drawn from small families giving insufficient information. © 1993 Wiley‐Liss, Inc.</description><subject>adenomatous polyposis coli</subject><subject>Adenomatous Polyposis Coli - diagnostic imaging</subject><subject>Adenomatous Polyposis Coli - genetics</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>familial adenomatous polyposis</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>Male</subject><subject>Medical sciences</subject><subject>non-allelic heterogeneity</subject><subject>Pedigree</subject><subject>Radiography</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. 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Meera</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4405-5bdf441f3c1f504b678e477655f91af9da30ea5220f102f3c45522eae8ff3d223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>adenomatous polyposis coli</topic><topic>Adenomatous Polyposis Coli - diagnostic imaging</topic><topic>Adenomatous Polyposis Coli - genetics</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>familial adenomatous polyposis</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>Male</topic><topic>Medical sciences</topic><topic>non-allelic heterogeneity</topic><topic>Pedigree</topic><topic>Radiography</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. 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J.</au><au>Van Der Klift, Heleen M.</au><au>Van Der Luijt, Rob B.</au><au>Griffioen, Gerrit</au><au>Taal, Babs G.</au><au>Vasen, Hans F. A.</au><au>Khan, P. Meera</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Non-allelic heterogeneity of familial adenomatous polyposis</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1993-09-15</date><risdate>1993</risdate><volume>47</volume><issue>4</issue><spage>563</spage><epage>567</epage><pages>563-567</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Linkage studies on familial adenomatous polyposis (FAP) reported so far suggest that FAP is a genetically homogeneous disease. Recently, we found that the putative gene for Turcot syndrome, an apparently autosomal recessive clinical variant of FAP, is not allelic to FAP. Here we describe another family, segregating for an autosomal dominant disease clinically indistinguishable from FAP but genetically not linked to the APC locus, adding further evidence for the occurrence of non‐allelic heterogeneity of FA. These observations have implications to the linkage‐based genetic counselling of persons at risk for FAP especially when they are drawn from small families giving insufficient information. © 1993 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>8256823</pmid><doi>10.1002/ajmg.1320470425</doi><tpages>5</tpages></addata></record> |
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| ispartof | American journal of medical genetics, 1993-09, Vol.47 (4), p.563-567 |
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| language | eng |
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| subjects | adenomatous polyposis coli Adenomatous Polyposis Coli - diagnostic imaging Adenomatous Polyposis Coli - genetics Alleles Biological and medical sciences familial adenomatous polyposis Female Gastroenterology. Liver. Pancreas. Abdomen Genetic Linkage Humans linkage analysis Male Medical sciences non-allelic heterogeneity Pedigree Radiography Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors |
| title | Non-allelic heterogeneity of familial adenomatous polyposis |
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