Heterogeneity analysis in 40 X-linked retinitis pigmentosa families
Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0....
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| Veröffentlicht in: | American journal of human genetics 1994-07, Vol.55 (1), p.105-111 |
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| creator | TEAGUE, P. W ALDRED, M. A BUNDEY, S JAY, B BIRD, A. C BHATTACHARYA, S. S WRIGHT, A. F JAY, M DEMPSTER, M HARRISON, C CAROTHERS, A. D HARDWICK, L. J EVANS, H. J STRAIN, L BROCK, D. J. H |
| description | Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3. Bayesian probabilities of linkage to RP2, RP3, or to neither locus were calculated. This showed that 20 of 40 kindreds could be assigned to one or the other locus, with a probability > .70 (14 kindreds with RP3 and 6 kindreds with RP2 disease). A further three kindreds were found to be unlinked to either locus, with a probability > .8. The remaining 17 kindreds could not be classified unambiguously. This highlights the difficulty of classifying families in the presence of genetic heterogeneity, where the two loci are separated by an estimated 16 cM. |
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W ; ALDRED, M. A ; BUNDEY, S ; JAY, B ; BIRD, A. C ; BHATTACHARYA, S. S ; WRIGHT, A. F ; JAY, M ; DEMPSTER, M ; HARRISON, C ; CAROTHERS, A. D ; HARDWICK, L. J ; EVANS, H. J ; STRAIN, L ; BROCK, D. J. H</creator><creatorcontrib>TEAGUE, P. W ; ALDRED, M. A ; BUNDEY, S ; JAY, B ; BIRD, A. C ; BHATTACHARYA, S. S ; WRIGHT, A. F ; JAY, M ; DEMPSTER, M ; HARRISON, C ; CAROTHERS, A. D ; HARDWICK, L. J ; EVANS, H. J ; STRAIN, L ; BROCK, D. J. H</creatorcontrib><description>Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3. Bayesian probabilities of linkage to RP2, RP3, or to neither locus were calculated. This showed that 20 of 40 kindreds could be assigned to one or the other locus, with a probability > .70 (14 kindreds with RP3 and 6 kindreds with RP2 disease). A further three kindreds were found to be unlinked to either locus, with a probability > .8. The remaining 17 kindreds could not be classified unambiguously. 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W</creatorcontrib><creatorcontrib>ALDRED, M. A</creatorcontrib><creatorcontrib>BUNDEY, S</creatorcontrib><creatorcontrib>JAY, B</creatorcontrib><creatorcontrib>BIRD, A. C</creatorcontrib><creatorcontrib>BHATTACHARYA, S. S</creatorcontrib><creatorcontrib>WRIGHT, A. F</creatorcontrib><creatorcontrib>JAY, M</creatorcontrib><creatorcontrib>DEMPSTER, M</creatorcontrib><creatorcontrib>HARRISON, C</creatorcontrib><creatorcontrib>CAROTHERS, A. D</creatorcontrib><creatorcontrib>HARDWICK, L. J</creatorcontrib><creatorcontrib>EVANS, H. J</creatorcontrib><creatorcontrib>STRAIN, L</creatorcontrib><creatorcontrib>BROCK, D. J. H</creatorcontrib><title>Heterogeneity analysis in 40 X-linked retinitis pigmentosa families</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3. Bayesian probabilities of linkage to RP2, RP3, or to neither locus were calculated. This showed that 20 of 40 kindreds could be assigned to one or the other locus, with a probability > .70 (14 kindreds with RP3 and 6 kindreds with RP2 disease). A further three kindreds were found to be unlinked to either locus, with a probability > .8. The remaining 17 kindreds could not be classified unambiguously. This highlights the difficulty of classifying families in the presence of genetic heterogeneity, where the two loci are separated by an estimated 16 cM.</description><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Bayes Theorem</subject><subject>Biological and medical sciences</subject><subject>BIOLOGICAL VARIABILITY</subject><subject>BODY</subject><subject>BODY AREAS</subject><subject>Chi-Square Distribution</subject><subject>CHROMOSOMES</subject><subject>DISEASES</subject><subject>EYES</subject><subject>FACE</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>GENETIC MAPPING</subject><subject>GENETIC VARIABILITY</subject><subject>Genotype</subject><subject>HEAD</subject><subject>HEREDITARY DISEASES</subject><subject>HETEROCHROMOSOMES</subject><subject>Heterozygote</subject><subject>HUMAN CHROMOSOMES</subject><subject>HUMAN POPULATIONS</subject><subject>HUMAN X CHROMOSOME</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>MAPPING</subject><subject>Medical sciences</subject><subject>Odds Ratio</subject><subject>Ophthalmology</subject><subject>ORGANS</subject><subject>Original</subject><subject>Phenotype</subject><subject>Polymorphism, Genetic</subject><subject>POPULATIONS</subject><subject>RETINA</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>Retinopathies</subject><subject>SENSE ORGANS</subject><subject>Sex Chromosome Aberrations - genetics</subject><subject>X Chromosome</subject><subject>X CHROMOSOME 550400 -- Genetics</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkEFLAzEQhRdRaq3-BGER8baQ2exmsxdBilqh4EXBW5imkza6m9RNKvTfG2gpeprD93jvzTvJxlDzphCC1afZmDFWFm3ZNufZRQifjAFIxkfZSLKSSy7H2XRGkQa_Ikc27nJ02O2CDbl1ecXyj6Kz7ouW-UDROhsT2NhVTy76gLnB3naWwmV2ZrALdHW4k-z96fFtOivmr88v04d54Tk0saglgWxLBlwYhoQAoq5EhbTQAhdtC6Y0hjUCOLQGQRiuS4NMU6OBJ84n2f3ed7Nd9LTUqcaAndoMtsdhpzxa9Z84u1Yr_6OgBVkymQxu9gY-RKuCtpH0WnvnSEclZAlC1kl0d0gZ_PeWQlS9DZq6Dh35bVCNqJsm7ZiE13_rHHsctk389sAxaOzMgE7bcJRVIKoqPfsL0s6Dmw</recordid><startdate>19940701</startdate><enddate>19940701</enddate><creator>TEAGUE, P. W</creator><creator>ALDRED, M. A</creator><creator>BUNDEY, S</creator><creator>JAY, B</creator><creator>BIRD, A. C</creator><creator>BHATTACHARYA, S. S</creator><creator>WRIGHT, A. F</creator><creator>JAY, M</creator><creator>DEMPSTER, M</creator><creator>HARRISON, C</creator><creator>CAROTHERS, A. D</creator><creator>HARDWICK, L. J</creator><creator>EVANS, H. J</creator><creator>STRAIN, L</creator><creator>BROCK, D. J. H</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>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19940701</creationdate><title>Heterogeneity analysis in 40 X-linked retinitis pigmentosa families</title><author>TEAGUE, P. W ; ALDRED, M. A ; BUNDEY, S ; JAY, B ; BIRD, A. C ; BHATTACHARYA, S. S ; WRIGHT, A. F ; JAY, M ; DEMPSTER, M ; HARRISON, C ; CAROTHERS, A. D ; HARDWICK, L. J ; EVANS, H. J ; STRAIN, L ; BROCK, D. J. 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H</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>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>TEAGUE, P. W</au><au>ALDRED, M. A</au><au>BUNDEY, S</au><au>JAY, B</au><au>BIRD, A. C</au><au>BHATTACHARYA, S. S</au><au>WRIGHT, A. F</au><au>JAY, M</au><au>DEMPSTER, M</au><au>HARRISON, C</au><au>CAROTHERS, A. D</au><au>HARDWICK, L. J</au><au>EVANS, H. J</au><au>STRAIN, L</au><au>BROCK, D. J. H</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Heterogeneity analysis in 40 X-linked retinitis pigmentosa families</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1994-07-01</date><risdate>1994</risdate><volume>55</volume><issue>1</issue><spage>105</spage><epage>111</epage><pages>105-111</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Analysis of genetic heterogeneity in 40 kindreds with X-linked retinitis pigmentosa (XLRP), with 20 polymorphic markers, showed that significant heterogeneity is present (P = .001) and that 56% of kindreds are of RP3 type and that 26% are of RP2 type. The location of the RP3 locus was found to be 0.4 cM distal to OTC in the Xp21.1 region, and that of the RP2 locus was 6.5 cM proximal to DXS7 in Xp11.2-p11.3. Bayesian probabilities of linkage to RP2, RP3, or to neither locus were calculated. This showed that 20 of 40 kindreds could be assigned to one or the other locus, with a probability > .70 (14 kindreds with RP3 and 6 kindreds with RP2 disease). A further three kindreds were found to be unlinked to either locus, with a probability > .8. The remaining 17 kindreds could not be classified unambiguously. This highlights the difficulty of classifying families in the presence of genetic heterogeneity, where the two loci are separated by an estimated 16 cM.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>8023838</pmid><tpages>7</tpages></addata></record> |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present); EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | BASIC BIOLOGICAL SCIENCES Bayes Theorem Biological and medical sciences BIOLOGICAL VARIABILITY BODY BODY AREAS Chi-Square Distribution CHROMOSOMES DISEASES EYES FACE Female Genetic Linkage GENETIC MAPPING GENETIC VARIABILITY Genotype HEAD HEREDITARY DISEASES HETEROCHROMOSOMES Heterozygote HUMAN CHROMOSOMES HUMAN POPULATIONS HUMAN X CHROMOSOME Humans Lod Score Male MAPPING Medical sciences Odds Ratio Ophthalmology ORGANS Original Phenotype Polymorphism, Genetic POPULATIONS RETINA Retinitis Pigmentosa - genetics Retinopathies SENSE ORGANS Sex Chromosome Aberrations - genetics X Chromosome X CHROMOSOME 550400 -- Genetics |
| title | Heterogeneity analysis in 40 X-linked retinitis pigmentosa families |
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