Confirmation of chromosome 9p linkage familial melanoma
Malignant melanoma occurs as a familial cancer in 5%-10% of cases where it segregates in a manner consistent with autosomal dominant inheritance. Evidence from cytogenetics, fine-mapping studies of deletions in melanomas, and recent linkage studies supports the location of a human melanoma predispos...
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| Veröffentlicht in: | American journal of human genetics 1993-10, Vol.53 (4), p.936-942 |
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| creator | NANCARROW, D. J MANN, G. J FOUNTAIN, J. W KEFFORD, R. F HAYWARD, N. K HOLLAND, E. A WALKER, G. J BEATON, S. C WALTERS, M. K LUXFORD, C PALMER, J. M DONALD, J. A WEBER, J. L |
| description | Malignant melanoma occurs as a familial cancer in 5%-10% of cases where it segregates in a manner consistent with autosomal dominant inheritance. Evidence from cytogenetics, fine-mapping studies of deletions in melanomas, and recent linkage studies supports the location of a human melanoma predisposition gene on the short arm of chromosome 9. We have carried out linkage analysis using the 9p markers IFNA and D9S126 in 26 Australian melanoma kindreds. Multipoint analysis gave a peak lod score of 4.43, 15 cM centromeric to D9S126, although a lod score of 4.13 was also found 15 cM telomeric of IFNA. These data confirm the existence of a melanoma susceptibility gene on 9p and indicate that this locus most probably lies outside of the IFNA-D9S126 interval. No significant heterogeneity was found between families, when either pairwise or multipoint data were analyzed using HOMOG. |
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J ; MANN, G. J ; FOUNTAIN, J. W ; KEFFORD, R. F ; HAYWARD, N. K ; HOLLAND, E. A ; WALKER, G. J ; BEATON, S. C ; WALTERS, M. K ; LUXFORD, C ; PALMER, J. M ; DONALD, J. A ; WEBER, J. L</creator><creatorcontrib>NANCARROW, D. J ; MANN, G. J ; FOUNTAIN, J. W ; KEFFORD, R. F ; HAYWARD, N. K ; HOLLAND, E. A ; WALKER, G. J ; BEATON, S. C ; WALTERS, M. K ; LUXFORD, C ; PALMER, J. M ; DONALD, J. A ; WEBER, J. L</creatorcontrib><description>Malignant melanoma occurs as a familial cancer in 5%-10% of cases where it segregates in a manner consistent with autosomal dominant inheritance. Evidence from cytogenetics, fine-mapping studies of deletions in melanomas, and recent linkage studies supports the location of a human melanoma predisposition gene on the short arm of chromosome 9. We have carried out linkage analysis using the 9p markers IFNA and D9S126 in 26 Australian melanoma kindreds. Multipoint analysis gave a peak lod score of 4.43, 15 cM centromeric to D9S126, although a lod score of 4.13 was also found 15 cM telomeric of IFNA. These data confirm the existence of a melanoma susceptibility gene on 9p and indicate that this locus most probably lies outside of the IFNA-D9S126 interval. No significant heterogeneity was found between families, when either pairwise or multipoint data were analyzed using HOMOG.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 8213823</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>Adult ; Age of Onset ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; BIOLOGICAL MARKERS ; CARCINOMAS ; chromosome 9 ; CHROMOSOMES ; Chromosomes, Human, Pair 9 ; Dermatology ; DISEASES ; EPITHELIOMAS ; family studies ; GENE MUTATIONS ; Genetic Linkage ; GENETIC MAPPING ; Genetic Predisposition to Disease ; HEREDITARY DISEASES ; HUMAN CHROMOSOME 9 ; HUMAN CHROMOSOMES ; Humans ; linkage analysis ; Lod Score ; man ; MAPPING ; Medical sciences ; melanoma ; Melanoma - genetics ; MELANOMAS ; Middle Aged ; MUTATIONS ; NEOPLASMS 550400 -- Genetics ; Original ; Tumors of the skin and soft tissue. Premalignant lesions</subject><ispartof>American journal of human genetics, 1993-10, Vol.53 (4), p.936-942</ispartof><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682395/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682395/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4884256$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8213823$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/5135259$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>NANCARROW, D. J</creatorcontrib><creatorcontrib>MANN, G. J</creatorcontrib><creatorcontrib>FOUNTAIN, J. W</creatorcontrib><creatorcontrib>KEFFORD, R. F</creatorcontrib><creatorcontrib>HAYWARD, N. K</creatorcontrib><creatorcontrib>HOLLAND, E. A</creatorcontrib><creatorcontrib>WALKER, G. J</creatorcontrib><creatorcontrib>BEATON, S. C</creatorcontrib><creatorcontrib>WALTERS, M. K</creatorcontrib><creatorcontrib>LUXFORD, C</creatorcontrib><creatorcontrib>PALMER, J. M</creatorcontrib><creatorcontrib>DONALD, J. A</creatorcontrib><creatorcontrib>WEBER, J. L</creatorcontrib><title>Confirmation of chromosome 9p linkage familial melanoma</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Malignant melanoma occurs as a familial cancer in 5%-10% of cases where it segregates in a manner consistent with autosomal dominant inheritance. Evidence from cytogenetics, fine-mapping studies of deletions in melanomas, and recent linkage studies supports the location of a human melanoma predisposition gene on the short arm of chromosome 9. We have carried out linkage analysis using the 9p markers IFNA and D9S126 in 26 Australian melanoma kindreds. Multipoint analysis gave a peak lod score of 4.43, 15 cM centromeric to D9S126, although a lod score of 4.13 was also found 15 cM telomeric of IFNA. These data confirm the existence of a melanoma susceptibility gene on 9p and indicate that this locus most probably lies outside of the IFNA-D9S126 interval. No significant heterogeneity was found between families, when either pairwise or multipoint data were analyzed using HOMOG.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>BIOLOGICAL MARKERS</subject><subject>CARCINOMAS</subject><subject>chromosome 9</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Dermatology</subject><subject>DISEASES</subject><subject>EPITHELIOMAS</subject><subject>family studies</subject><subject>GENE MUTATIONS</subject><subject>Genetic Linkage</subject><subject>GENETIC MAPPING</subject><subject>Genetic Predisposition to Disease</subject><subject>HEREDITARY DISEASES</subject><subject>HUMAN CHROMOSOME 9</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>Lod Score</subject><subject>man</subject><subject>MAPPING</subject><subject>Medical sciences</subject><subject>melanoma</subject><subject>Melanoma - genetics</subject><subject>MELANOMAS</subject><subject>Middle Aged</subject><subject>MUTATIONS</subject><subject>NEOPLASMS 550400 -- Genetics</subject><subject>Original</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkEtLAzEUhYMotVZ_gjCIuBvIY_LaCFJ8QcGNrsOdNGmjk6ROpoL_3oGWoitXd3E-zj3nHKEp4UzWQmB-jKYYY1prquUpOivlHWNCFGYTNFGUMEXZFMl5Tj70EYaQU5V9Zdd9jrnk6Cq9qbqQPmDlKg8xdAG6KroOUo5wjk48dMVd7O8MvT3cv86f6sXL4_P8blFn1qihdo31wjOiqBdaSQltI1uHW0ExaN3ahnuxlIJZyvGSyMYy0Nx7ywTxDIhiM3S7891s2-iW1qWhh85s-hCh_zYZgvmrpLA2q_xliBj7aT4aXO0MchmCKTYMzq5tTsnZwXDCOOV6hG72X_r8uXVlMDEU67qxq8vbYqTAhKtG_AsSwZXUmozg5e_ch8D74Uf9eq9DsdD5HpIN5YA1SjWUC_YDm3uMlw</recordid><startdate>19931001</startdate><enddate>19931001</enddate><creator>NANCARROW, D. J</creator><creator>MANN, G. J</creator><creator>FOUNTAIN, J. W</creator><creator>KEFFORD, R. F</creator><creator>HAYWARD, N. K</creator><creator>HOLLAND, E. A</creator><creator>WALKER, G. J</creator><creator>BEATON, S. C</creator><creator>WALTERS, M. K</creator><creator>LUXFORD, C</creator><creator>PALMER, J. M</creator><creator>DONALD, J. A</creator><creator>WEBER, J. L</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19931001</creationdate><title>Confirmation of chromosome 9p linkage familial melanoma</title><author>NANCARROW, D. J ; MANN, G. J ; FOUNTAIN, J. W ; KEFFORD, R. F ; HAYWARD, N. K ; HOLLAND, E. A ; WALKER, G. J ; BEATON, S. C ; WALTERS, M. K ; LUXFORD, C ; PALMER, J. M ; DONALD, J. A ; WEBER, J. L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-o348t-e4cf6f3182f69877ab47be0b620a99bc45f6d763c250d174c3a95ffc361f3a183</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>BIOLOGICAL MARKERS</topic><topic>CARCINOMAS</topic><topic>chromosome 9</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 9</topic><topic>Dermatology</topic><topic>DISEASES</topic><topic>EPITHELIOMAS</topic><topic>family studies</topic><topic>GENE MUTATIONS</topic><topic>Genetic Linkage</topic><topic>GENETIC MAPPING</topic><topic>Genetic Predisposition to Disease</topic><topic>HEREDITARY DISEASES</topic><topic>HUMAN CHROMOSOME 9</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>Lod Score</topic><topic>man</topic><topic>MAPPING</topic><topic>Medical sciences</topic><topic>melanoma</topic><topic>Melanoma - genetics</topic><topic>MELANOMAS</topic><topic>Middle Aged</topic><topic>MUTATIONS</topic><topic>NEOPLASMS 550400 -- Genetics</topic><topic>Original</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>NANCARROW, D. J</creatorcontrib><creatorcontrib>MANN, G. J</creatorcontrib><creatorcontrib>FOUNTAIN, J. W</creatorcontrib><creatorcontrib>KEFFORD, R. F</creatorcontrib><creatorcontrib>HAYWARD, N. K</creatorcontrib><creatorcontrib>HOLLAND, E. A</creatorcontrib><creatorcontrib>WALKER, G. J</creatorcontrib><creatorcontrib>BEATON, S. C</creatorcontrib><creatorcontrib>WALTERS, M. K</creatorcontrib><creatorcontrib>LUXFORD, C</creatorcontrib><creatorcontrib>PALMER, J. M</creatorcontrib><creatorcontrib>DONALD, J. A</creatorcontrib><creatorcontrib>WEBER, J. L</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>NANCARROW, D. J</au><au>MANN, G. J</au><au>FOUNTAIN, J. W</au><au>KEFFORD, R. F</au><au>HAYWARD, N. K</au><au>HOLLAND, E. A</au><au>WALKER, G. J</au><au>BEATON, S. C</au><au>WALTERS, M. K</au><au>LUXFORD, C</au><au>PALMER, J. M</au><au>DONALD, J. A</au><au>WEBER, J. L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Confirmation of chromosome 9p linkage familial melanoma</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1993-10-01</date><risdate>1993</risdate><volume>53</volume><issue>4</issue><spage>936</spage><epage>942</epage><pages>936-942</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Malignant melanoma occurs as a familial cancer in 5%-10% of cases where it segregates in a manner consistent with autosomal dominant inheritance. Evidence from cytogenetics, fine-mapping studies of deletions in melanomas, and recent linkage studies supports the location of a human melanoma predisposition gene on the short arm of chromosome 9. We have carried out linkage analysis using the 9p markers IFNA and D9S126 in 26 Australian melanoma kindreds. Multipoint analysis gave a peak lod score of 4.43, 15 cM centromeric to D9S126, although a lod score of 4.13 was also found 15 cM telomeric of IFNA. These data confirm the existence of a melanoma susceptibility gene on 9p and indicate that this locus most probably lies outside of the IFNA-D9S126 interval. No significant heterogeneity was found between families, when either pairwise or multipoint data were analyzed using HOMOG.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>8213823</pmid><tpages>7</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Adult Age of Onset BASIC BIOLOGICAL SCIENCES Biological and medical sciences BIOLOGICAL MARKERS CARCINOMAS chromosome 9 CHROMOSOMES Chromosomes, Human, Pair 9 Dermatology DISEASES EPITHELIOMAS family studies GENE MUTATIONS Genetic Linkage GENETIC MAPPING Genetic Predisposition to Disease HEREDITARY DISEASES HUMAN CHROMOSOME 9 HUMAN CHROMOSOMES Humans linkage analysis Lod Score man MAPPING Medical sciences melanoma Melanoma - genetics MELANOMAS Middle Aged MUTATIONS NEOPLASMS 550400 -- Genetics Original Tumors of the skin and soft tissue. Premalignant lesions |
| title | Confirmation of chromosome 9p linkage familial melanoma |
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