Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes
In this study we compared parameter estimates and model hypotheses in pedigree data collected by fixed sampling with estimates and hypotheses derived by sequential sampling. Employing a fixed sampling scheme, we previously analyzed data on relatives of 159 childhood sarcoma patients. We have now ext...
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| Veröffentlicht in: | Genetic epidemiology 1992, Vol.9 (5), p.291-304 |
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| container_title | Genetic epidemiology |
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| creator | Bondy, Melissa L. Lustbader, Edward D. Strom, Sara S. Strong, Louise C. Chakravarti, Aravinda |
| description | In this study we compared parameter estimates and model hypotheses in pedigree data collected by fixed sampling with estimates and hypotheses derived by sequential sampling. Employing a fixed sampling scheme, we previously analyzed data on relatives of 159 childhood sarcoma patients. We have now extracted from that data set individuals who would have been included in a sequentially sampled study. We applied segregation analysis to the truncated data, to determine the mode of inheritance and major locus parameter estimates. With data from both sampling schemes we made a family‐by‐family comparison to determine each family's contribution to a major gene model. The two sampling schemes yielded similar results: we detected segregation of a dominant major gene and obtained similar major locus parameter estimates. However, the sequential sampling scheme derived these conclusions from data on 982 relatives rather than the 2,451 ascertained in the fixed sampling scheme. The sequential sampling scheme failed to identify only one of the kindreds likely to be segregating the gene. For this data set, the sequential sampling scheme would have provided an efficient mechanism to discriminate genetic hypotheses and would have permitted focus of resources on the specific kindreds likely to segregate a major gene. © 1992 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/gepi.1370090502 |
| format | Article |
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Employing a fixed sampling scheme, we previously analyzed data on relatives of 159 childhood sarcoma patients. We have now extracted from that data set individuals who would have been included in a sequentially sampled study. We applied segregation analysis to the truncated data, to determine the mode of inheritance and major locus parameter estimates. With data from both sampling schemes we made a family‐by‐family comparison to determine each family's contribution to a major gene model. The two sampling schemes yielded similar results: we detected segregation of a dominant major gene and obtained similar major locus parameter estimates. However, the sequential sampling scheme derived these conclusions from data on 982 relatives rather than the 2,451 ascertained in the fixed sampling scheme. The sequential sampling scheme failed to identify only one of the kindreds likely to be segregating the gene. For this data set, the sequential sampling scheme would have provided an efficient mechanism to discriminate genetic hypotheses and would have permitted focus of resources on the specific kindreds likely to segregate a major gene. © 1992 Wiley‐Liss, Inc.</description><identifier>ISSN: 0741-0395</identifier><identifier>EISSN: 1098-2272</identifier><identifier>DOI: 10.1002/gepi.1370090502</identifier><identifier>PMID: 1427019</identifier><identifier>CODEN: GENYEX</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; analysis ; Biological and medical sciences ; Child ; Child, Preschool ; Dermatology ; Epidemiologic Methods ; epidemiological methods ; family studies ; Female ; genetic epidemiology ; Humans ; Incidence ; Infant ; Infant, Newborn ; Likelihood Functions ; Male ; man ; Medical sciences ; Pedigree ; sampling schemes ; Sampling Studies ; sarcoma ; Sarcoma - epidemiology ; Sarcoma - genetics ; segregation ; Soft Tissue Neoplasms - epidemiology ; Soft Tissue Neoplasms - genetics ; soft tissue sarcoma ; statistical genetics ; Texas - epidemiology ; Tumors of the skin and soft tissue. Premalignant lesions</subject><ispartof>Genetic epidemiology, 1992, Vol.9 (5), p.291-304</ispartof><rights>Copyright © 1992 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4752-9a4524c2329326afb80587582ba952cbaf1978d655f9c52dad1b6949984d523c3</citedby><cites>FETCH-LOGICAL-c4752-9a4524c2329326afb80587582ba952cbaf1978d655f9c52dad1b6949984d523c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fgepi.1370090502$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fgepi.1370090502$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,4010,27900,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4444983$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1427019$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bondy, Melissa L.</creatorcontrib><creatorcontrib>Lustbader, Edward D.</creatorcontrib><creatorcontrib>Strom, Sara S.</creatorcontrib><creatorcontrib>Strong, Louise C.</creatorcontrib><creatorcontrib>Chakravarti, Aravinda</creatorcontrib><title>Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes</title><title>Genetic epidemiology</title><addtitle>Genet. Epidemiol</addtitle><description>In this study we compared parameter estimates and model hypotheses in pedigree data collected by fixed sampling with estimates and hypotheses derived by sequential sampling. Employing a fixed sampling scheme, we previously analyzed data on relatives of 159 childhood sarcoma patients. We have now extracted from that data set individuals who would have been included in a sequentially sampled study. We applied segregation analysis to the truncated data, to determine the mode of inheritance and major locus parameter estimates. With data from both sampling schemes we made a family‐by‐family comparison to determine each family's contribution to a major gene model. The two sampling schemes yielded similar results: we detected segregation of a dominant major gene and obtained similar major locus parameter estimates. However, the sequential sampling scheme derived these conclusions from data on 982 relatives rather than the 2,451 ascertained in the fixed sampling scheme. The sequential sampling scheme failed to identify only one of the kindreds likely to be segregating the gene. For this data set, the sequential sampling scheme would have provided an efficient mechanism to discriminate genetic hypotheses and would have permitted focus of resources on the specific kindreds likely to segregate a major gene. © 1992 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>analysis</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Dermatology</subject><subject>Epidemiologic Methods</subject><subject>epidemiological methods</subject><subject>family studies</subject><subject>Female</subject><subject>genetic epidemiology</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Likelihood Functions</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Pedigree</subject><subject>sampling schemes</subject><subject>Sampling Studies</subject><subject>sarcoma</subject><subject>Sarcoma - epidemiology</subject><subject>Sarcoma - genetics</subject><subject>segregation</subject><subject>Soft Tissue Neoplasms - epidemiology</subject><subject>Soft Tissue Neoplasms - genetics</subject><subject>soft tissue sarcoma</subject><subject>statistical genetics</subject><subject>Texas - epidemiology</subject><subject>Tumors of the skin and soft tissue. Premalignant lesions</subject><issn>0741-0395</issn><issn>1098-2272</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1rFDEYh4ModVs9exJyEPEybT4nEz3J0l0LRQtWCl5CJsmssfNl3lns_vfNMkuLF5tLDu_z_PKGH0JvKDmlhLCzTRjjKeWKEE0kYc_QghJdFYwp9hwtiBK0IFzLl-gY4DchlAotj9ARFUwRqheo-x42KWzsFIce2962O4iAhwZTqTEMzYSnCLANGGxyQ2fxbex9Ch4-4uXQjTZFyGLmm3gXfE7wGMKfbeinaNssdWMb-w0G9yt0AV6hF41tIbw-3Cfox-r8evmluPy2vlh-viycUJIV2grJhGOcac5K29QVkZWSFautlszVtqFaVb6UstFOMm89rUsttK6El4w7foLez7ljGvIyMJkuggtta_swbMEozimpSv4kSEuhSq1YBj_8H5SCMK4zm9GzGXVpAEihMWOKnU07Q4nZl2b2pZnH0rLx9hC-rbvgH_m5pTx_d5hbcLZtku1dhAdM5KOr_Wc-zdjf2IbdU6-a9fnVxT9LFLMdYQp3D7ZNt6ZUXElz83Vt5Orm5-rqWpo1vwcXHL9K</recordid><startdate>1992</startdate><enddate>1992</enddate><creator>Bondy, Melissa L.</creator><creator>Lustbader, Edward D.</creator><creator>Strom, Sara S.</creator><creator>Strong, Louise C.</creator><creator>Chakravarti, Aravinda</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7T3</scope><scope>7X8</scope></search><sort><creationdate>1992</creationdate><title>Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes</title><author>Bondy, Melissa L. ; Lustbader, Edward D. ; Strom, Sara S. ; Strong, Louise C. ; Chakravarti, Aravinda</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4752-9a4524c2329326afb80587582ba952cbaf1978d655f9c52dad1b6949984d523c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Adolescent</topic><topic>analysis</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Dermatology</topic><topic>Epidemiologic Methods</topic><topic>epidemiological methods</topic><topic>family studies</topic><topic>Female</topic><topic>genetic epidemiology</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Likelihood Functions</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Pedigree</topic><topic>sampling schemes</topic><topic>Sampling Studies</topic><topic>sarcoma</topic><topic>Sarcoma - epidemiology</topic><topic>Sarcoma - genetics</topic><topic>segregation</topic><topic>Soft Tissue Neoplasms - epidemiology</topic><topic>Soft Tissue Neoplasms - genetics</topic><topic>soft tissue sarcoma</topic><topic>statistical genetics</topic><topic>Texas - epidemiology</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bondy, Melissa L.</creatorcontrib><creatorcontrib>Lustbader, Edward D.</creatorcontrib><creatorcontrib>Strom, Sara S.</creatorcontrib><creatorcontrib>Strong, Louise C.</creatorcontrib><creatorcontrib>Chakravarti, Aravinda</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>Human Genome Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genetic epidemiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bondy, Melissa L.</au><au>Lustbader, Edward D.</au><au>Strom, Sara S.</au><au>Strong, Louise C.</au><au>Chakravarti, Aravinda</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes</atitle><jtitle>Genetic epidemiology</jtitle><addtitle>Genet. Epidemiol</addtitle><date>1992</date><risdate>1992</risdate><volume>9</volume><issue>5</issue><spage>291</spage><epage>304</epage><pages>291-304</pages><issn>0741-0395</issn><eissn>1098-2272</eissn><coden>GENYEX</coden><abstract>In this study we compared parameter estimates and model hypotheses in pedigree data collected by fixed sampling with estimates and hypotheses derived by sequential sampling. Employing a fixed sampling scheme, we previously analyzed data on relatives of 159 childhood sarcoma patients. We have now extracted from that data set individuals who would have been included in a sequentially sampled study. We applied segregation analysis to the truncated data, to determine the mode of inheritance and major locus parameter estimates. With data from both sampling schemes we made a family‐by‐family comparison to determine each family's contribution to a major gene model. The two sampling schemes yielded similar results: we detected segregation of a dominant major gene and obtained similar major locus parameter estimates. However, the sequential sampling scheme derived these conclusions from data on 982 relatives rather than the 2,451 ascertained in the fixed sampling scheme. The sequential sampling scheme failed to identify only one of the kindreds likely to be segregating the gene. For this data set, the sequential sampling scheme would have provided an efficient mechanism to discriminate genetic hypotheses and would have permitted focus of resources on the specific kindreds likely to segregate a major gene. © 1992 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1427019</pmid><doi>10.1002/gepi.1370090502</doi><tpages>14</tpages></addata></record> |
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| ispartof | Genetic epidemiology, 1992, Vol.9 (5), p.291-304 |
| issn | 0741-0395 1098-2272 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adolescent analysis Biological and medical sciences Child Child, Preschool Dermatology Epidemiologic Methods epidemiological methods family studies Female genetic epidemiology Humans Incidence Infant Infant, Newborn Likelihood Functions Male man Medical sciences Pedigree sampling schemes Sampling Studies sarcoma Sarcoma - epidemiology Sarcoma - genetics segregation Soft Tissue Neoplasms - epidemiology Soft Tissue Neoplasms - genetics soft tissue sarcoma statistical genetics Texas - epidemiology Tumors of the skin and soft tissue. Premalignant lesions |
| title | Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes |
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