Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assign...
Gespeichert in:
| Veröffentlicht in: | American journal of human genetics 1994-04, Vol.54 (4), p.681-686 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 686 |
|---|---|
| container_issue | 4 |
| container_start_page | 681 |
| container_title | American journal of human genetics |
| container_volume | 54 |
| creator | Keats, B J Nouri, N Pelias, M Z Deininger, P L Litt, M |
| description | Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assigned to the short arm of chromosome 11 through linkage studies in the Acadian population of southwestern Louisiana. Linkage analyses of a set of microsatellite markers in 27 Acadian families provide evidence that USH1C lies between D11S861 and D11S928. Three markers (D11S419, D11S921, and D11S899) that lie between the flanking markers show no recombination with USH1C, and all 54 chromosomes with the abnormal allele at the disease locus have identical alleles for D11S419 and D11S921. This haplotype was found on only 10 of 50 chromosomes with the normal allele at the disease locus, suggesting a strong founder effect. Of the 54 chromosomes with the abnormal allele, 12 had a divergent allele at D11S899. These results suggest that USH1C is in the 2-3-cM interval between D11S861 and D11S899. |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1918090</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>76391717</sourcerecordid><originalsourceid>FETCH-LOGICAL-o234t-b648df178bb50070ac5e62fde398213e038f0810644606c766be2685171fb8033</originalsourceid><addsrcrecordid>eNqFkUtr5DAQhE3YMJk8fsKCyGFvhpZlS_JlIYTNAwK5JGchy-2xMrY0kTQL8--jZIaQnHLqQ39UV1UfFUvaMFFyDs2vYgkAVdlWrTgpTmN8AaBUAlsUC0kr2XK-LNKTXY1p2pHJujX2ZJi0W1u3IrM1wUedcJpsQjLrsMYQyeADSSOS5zhiIHHn-uBnJGm3QXJPJm-2kXj3gcTRh0R0mIkfiBkz5-M7S-l5cTzoKeLFYZ4Vzzf_nq7vyofH2_vrq4fSV6xOZcdr2Q9UyK5rAARo0yCvhh5ZKyvKEJgcQFLgdc2BG8F5hxWXDRV06HJOdlb83etutt2MvUGXgp7UJtgcZ6e8tur7xtlRrfx_RdvcUwtZ4HIv4GOyKprchBmNdw5NUgJYzRqRoT-HK8G_bjEmNdtocm_aod9GJThrs6WfQZq91wKqDP7-6vvT8OFr7A3f0pVH</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>16854702</pqid></control><display><type>article</type><title>Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>ScienceDirect Journals (5 years ago - present)</source><source>PubMed Central</source><creator>Keats, B J ; Nouri, N ; Pelias, M Z ; Deininger, P L ; Litt, M</creator><creatorcontrib>Keats, B J ; Nouri, N ; Pelias, M Z ; Deininger, P L ; Litt, M</creatorcontrib><description>Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assigned to the short arm of chromosome 11 through linkage studies in the Acadian population of southwestern Louisiana. Linkage analyses of a set of microsatellite markers in 27 Acadian families provide evidence that USH1C lies between D11S861 and D11S928. Three markers (D11S419, D11S921, and D11S899) that lie between the flanking markers show no recombination with USH1C, and all 54 chromosomes with the abnormal allele at the disease locus have identical alleles for D11S419 and D11S921. This haplotype was found on only 10 of 50 chromosomes with the normal allele at the disease locus, suggesting a strong founder effect. Of the 54 chromosomes with the abnormal allele, 12 had a divergent allele at D11S899. These results suggest that USH1C is in the 2-3-cM interval between D11S861 and D11S899.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 8128966</identifier><language>eng</language><publisher>United States</publisher><subject>AUDITORY ORGANS ; BASIC BIOLOGICAL SCIENCES ; BODY ; BODY AREAS ; chromosome 11 ; CHROMOSOMES ; Chromosomes, Human, Pair 11 ; Deafness - congenital ; Deafness - genetics ; DISEASES ; DNA, Satellite - analysis ; EYES ; FACE ; Genetic Linkage ; GENETIC MAPPING ; Genetic Markers ; Genetics, Population ; Haplotypes ; HEAD ; HEREDITARY DISEASES ; HUMAN CHROMOSOMES ; Humans ; linkage analysis ; Lod Score ; Louisiana ; man ; MAPPING ; ORGANS ; Pedigree ; Quebec - ethnology ; repeated sequence ; RETINA ; Retinitis Pigmentosa - genetics ; SENSE ORGANS 550400 -- Genetics ; Syndrome ; Usher's syndrome ; VESTIBULAR APPARATUS</subject><ispartof>American journal of human genetics, 1994-04, Vol.54 (4), p.681-686</ispartof><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/PMC1918090/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918090/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53790,53792</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8128966$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/7034357$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Keats, B J</creatorcontrib><creatorcontrib>Nouri, N</creatorcontrib><creatorcontrib>Pelias, M Z</creatorcontrib><creatorcontrib>Deininger, P L</creatorcontrib><creatorcontrib>Litt, M</creatorcontrib><title>Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assigned to the short arm of chromosome 11 through linkage studies in the Acadian population of southwestern Louisiana. Linkage analyses of a set of microsatellite markers in 27 Acadian families provide evidence that USH1C lies between D11S861 and D11S928. Three markers (D11S419, D11S921, and D11S899) that lie between the flanking markers show no recombination with USH1C, and all 54 chromosomes with the abnormal allele at the disease locus have identical alleles for D11S419 and D11S921. This haplotype was found on only 10 of 50 chromosomes with the normal allele at the disease locus, suggesting a strong founder effect. Of the 54 chromosomes with the abnormal allele, 12 had a divergent allele at D11S899. These results suggest that USH1C is in the 2-3-cM interval between D11S861 and D11S899.</description><subject>AUDITORY ORGANS</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>BODY</subject><subject>BODY AREAS</subject><subject>chromosome 11</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 11</subject><subject>Deafness - congenital</subject><subject>Deafness - genetics</subject><subject>DISEASES</subject><subject>DNA, Satellite - analysis</subject><subject>EYES</subject><subject>FACE</subject><subject>Genetic Linkage</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>Genetics, Population</subject><subject>Haplotypes</subject><subject>HEAD</subject><subject>HEREDITARY DISEASES</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>Lod Score</subject><subject>Louisiana</subject><subject>man</subject><subject>MAPPING</subject><subject>ORGANS</subject><subject>Pedigree</subject><subject>Quebec - ethnology</subject><subject>repeated sequence</subject><subject>RETINA</subject><subject>Retinitis Pigmentosa - genetics</subject><subject>SENSE ORGANS 550400 -- Genetics</subject><subject>Syndrome</subject><subject>Usher's syndrome</subject><subject>VESTIBULAR APPARATUS</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>eNqFkUtr5DAQhE3YMJk8fsKCyGFvhpZlS_JlIYTNAwK5JGchy-2xMrY0kTQL8--jZIaQnHLqQ39UV1UfFUvaMFFyDs2vYgkAVdlWrTgpTmN8AaBUAlsUC0kr2XK-LNKTXY1p2pHJujX2ZJi0W1u3IrM1wUedcJpsQjLrsMYQyeADSSOS5zhiIHHn-uBnJGm3QXJPJm-2kXj3gcTRh0R0mIkfiBkz5-M7S-l5cTzoKeLFYZ4Vzzf_nq7vyofH2_vrq4fSV6xOZcdr2Q9UyK5rAARo0yCvhh5ZKyvKEJgcQFLgdc2BG8F5hxWXDRV06HJOdlb83etutt2MvUGXgp7UJtgcZ6e8tur7xtlRrfx_RdvcUwtZ4HIv4GOyKprchBmNdw5NUgJYzRqRoT-HK8G_bjEmNdtocm_aod9GJThrs6WfQZq91wKqDP7-6vvT8OFr7A3f0pVH</recordid><startdate>19940401</startdate><enddate>19940401</enddate><creator>Keats, B J</creator><creator>Nouri, N</creator><creator>Pelias, M Z</creator><creator>Deininger, P L</creator><creator>Litt, M</creator><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>19940401</creationdate><title>Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11</title><author>Keats, B J ; Nouri, N ; Pelias, M Z ; Deininger, P L ; Litt, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-o234t-b648df178bb50070ac5e62fde398213e038f0810644606c766be2685171fb8033</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>AUDITORY ORGANS</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>BODY</topic><topic>BODY AREAS</topic><topic>chromosome 11</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 11</topic><topic>Deafness - congenital</topic><topic>Deafness - genetics</topic><topic>DISEASES</topic><topic>DNA, Satellite - analysis</topic><topic>EYES</topic><topic>FACE</topic><topic>Genetic Linkage</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>Genetics, Population</topic><topic>Haplotypes</topic><topic>HEAD</topic><topic>HEREDITARY DISEASES</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>Lod Score</topic><topic>Louisiana</topic><topic>man</topic><topic>MAPPING</topic><topic>ORGANS</topic><topic>Pedigree</topic><topic>Quebec - ethnology</topic><topic>repeated sequence</topic><topic>RETINA</topic><topic>Retinitis Pigmentosa - genetics</topic><topic>SENSE ORGANS 550400 -- Genetics</topic><topic>Syndrome</topic><topic>Usher's syndrome</topic><topic>VESTIBULAR APPARATUS</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Keats, B J</creatorcontrib><creatorcontrib>Nouri, N</creatorcontrib><creatorcontrib>Pelias, M Z</creatorcontrib><creatorcontrib>Deininger, P L</creatorcontrib><creatorcontrib>Litt, M</creatorcontrib><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>Keats, B J</au><au>Nouri, N</au><au>Pelias, M Z</au><au>Deininger, P L</au><au>Litt, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1994-04-01</date><risdate>1994</risdate><volume>54</volume><issue>4</issue><spage>681</spage><epage>686</epage><pages>681-686</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><abstract>Usher syndrome type I is an autosomal recessive disease characterized by profound congenital hearing impairment and vestibular dysfunction followed by the onset of progressive pigmentary retinopathy in childhood or early adolescence. A locus (USH1C) for one form of this disease was previously assigned to the short arm of chromosome 11 through linkage studies in the Acadian population of southwestern Louisiana. Linkage analyses of a set of microsatellite markers in 27 Acadian families provide evidence that USH1C lies between D11S861 and D11S928. Three markers (D11S419, D11S921, and D11S899) that lie between the flanking markers show no recombination with USH1C, and all 54 chromosomes with the abnormal allele at the disease locus have identical alleles for D11S419 and D11S921. This haplotype was found on only 10 of 50 chromosomes with the normal allele at the disease locus, suggesting a strong founder effect. Of the 54 chromosomes with the abnormal allele, 12 had a divergent allele at D11S899. These results suggest that USH1C is in the 2-3-cM interval between D11S861 and D11S899.</abstract><cop>United States</cop><pmid>8128966</pmid><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1994-04, Vol.54 (4), p.681-686 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1918090 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; ScienceDirect Journals (5 years ago - present); PubMed Central |
| subjects | AUDITORY ORGANS BASIC BIOLOGICAL SCIENCES BODY BODY AREAS chromosome 11 CHROMOSOMES Chromosomes, Human, Pair 11 Deafness - congenital Deafness - genetics DISEASES DNA, Satellite - analysis EYES FACE Genetic Linkage GENETIC MAPPING Genetic Markers Genetics, Population Haplotypes HEAD HEREDITARY DISEASES HUMAN CHROMOSOMES Humans linkage analysis Lod Score Louisiana man MAPPING ORGANS Pedigree Quebec - ethnology repeated sequence RETINA Retinitis Pigmentosa - genetics SENSE ORGANS 550400 -- Genetics Syndrome Usher's syndrome VESTIBULAR APPARATUS |
| title | Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T21%3A02%3A29IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Tightly%20linked%20flanking%20microsatellite%20markers%20for%20the%20Usher%20syndrome%20type%20I%20locus%20on%20the%20short%20arm%20of%20chromosome%2011&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Keats,%20B%20J&rft.date=1994-04-01&rft.volume=54&rft.issue=4&rft.spage=681&rft.epage=686&rft.pages=681-686&rft.issn=0002-9297&rft.eissn=1537-6605&rft_id=info:doi/&rft_dat=%3Cproquest_pubme%3E76391717%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=16854702&rft_id=info:pmid/8128966&rfr_iscdi=true |