Mutation screening of Pakistani families with congenital eye disorders
To map the disease loci several Pakistani families suffering from autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium and Leber congenital amaurosis (LCA) were analyzed. Analysis revealed close genetic linkage between the disease phenotype of some of th...
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| Veröffentlicht in: | Experimental eye research 2003-03, Vol.76 (3), p.343-348 |
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| creator | Khaliq, Shagufta Abid, Aiysha Hameed, Abdul Anwar, Khalid Mohyuddin, Aisha Azmat, Zobia Shami, S.A Ismail, Muhammad Mehdi, S.Qasim |
| description | To map the disease loci several Pakistani families suffering from autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium and Leber congenital amaurosis (LCA) were analyzed. Analysis revealed close genetic linkage between the disease phenotype of some of the families (3330RP, 111RP and 010LCA) and the microsatellite markers on chromosome 1q31. Mutation screening of the candidate gene CRB1 revealed a G to A transversion in exon 7 in arRP family 330RP and a T to C substitution in another arRP family, 111RP. In exon 9 of the CRB1 gene a T to C transversion was found in the family suffering from LCA (010LCA).
The LCA phenotype of another family (011LCA) in which the CRB1 locus was excluded, showed linkage with microsatellite markers D17S1294 and D17S796 on chromosome 17p13·1. The association of the candidate gene GUCY2D (17p13·1) with the disease phenotype was excluded as no disease-associated mutation was found in any of its exons. Mutation screening of another candidate gene, AIPL1 located in the same region, showed a novel homozygous C to A substitution in exon 2. These sequence changes are unique for the Pakistani families and some of these have not been reported previously. |
| doi_str_mv | 10.1016/S0014-4835(02)00304-4 |
| format | Article |
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The LCA phenotype of another family (011LCA) in which the CRB1 locus was excluded, showed linkage with microsatellite markers D17S1294 and D17S796 on chromosome 17p13·1. The association of the candidate gene GUCY2D (17p13·1) with the disease phenotype was excluded as no disease-associated mutation was found in any of its exons. Mutation screening of another candidate gene, AIPL1 located in the same region, showed a novel homozygous C to A substitution in exon 2. These sequence changes are unique for the Pakistani families and some of these have not been reported previously.</description><identifier>ISSN: 0014-4835</identifier><identifier>EISSN: 1096-0007</identifier><identifier>DOI: 10.1016/S0014-4835(02)00304-4</identifier><identifier>PMID: 12573663</identifier><identifier>CODEN: EXERA6</identifier><language>eng</language><publisher>London: Elsevier Ltd</publisher><subject>Adolescent ; Adult ; AIPL1 ; Biological and medical sciences ; candidate gene ; Child ; Chromosomes, Human, Pair 1 - genetics ; Chromosomes, Human, Pair 17 - genetics ; CRB1 ; DNA Mutational Analysis ; Female ; Genotype ; Heterozygote ; Humans ; LCA4 ; Leber congenital amaurosis ; Male ; Medical sciences ; Miscellaneous ; Mutation ; Ophthalmology ; Optic Atrophy, Hereditary, Leber - genetics ; Pedigree ; preserved para-arteriolar retinal pigment epithelium (PPRPE) ; retinal dystrophies ; Retinitis Pigmentosa - genetics</subject><ispartof>Experimental eye research, 2003-03, Vol.76 (3), p.343-348</ispartof><rights>2003 Elsevier Science Ltd</rights><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c391t-7c591c9163b7305f6466894122cd545ccb11a6c7b7de3dbdad296cff1aa828b33</citedby><cites>FETCH-LOGICAL-c391t-7c591c9163b7305f6466894122cd545ccb11a6c7b7de3dbdad296cff1aa828b33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0014-4835(02)00304-4$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14576285$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12573663$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Khaliq, Shagufta</creatorcontrib><creatorcontrib>Abid, Aiysha</creatorcontrib><creatorcontrib>Hameed, Abdul</creatorcontrib><creatorcontrib>Anwar, Khalid</creatorcontrib><creatorcontrib>Mohyuddin, Aisha</creatorcontrib><creatorcontrib>Azmat, Zobia</creatorcontrib><creatorcontrib>Shami, S.A</creatorcontrib><creatorcontrib>Ismail, Muhammad</creatorcontrib><creatorcontrib>Mehdi, S.Qasim</creatorcontrib><title>Mutation screening of Pakistani families with congenital eye disorders</title><title>Experimental eye research</title><addtitle>Exp Eye Res</addtitle><description>To map the disease loci several Pakistani families suffering from autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium and Leber congenital amaurosis (LCA) were analyzed. Analysis revealed close genetic linkage between the disease phenotype of some of the families (3330RP, 111RP and 010LCA) and the microsatellite markers on chromosome 1q31. Mutation screening of the candidate gene CRB1 revealed a G to A transversion in exon 7 in arRP family 330RP and a T to C substitution in another arRP family, 111RP. In exon 9 of the CRB1 gene a T to C transversion was found in the family suffering from LCA (010LCA).
The LCA phenotype of another family (011LCA) in which the CRB1 locus was excluded, showed linkage with microsatellite markers D17S1294 and D17S796 on chromosome 17p13·1. The association of the candidate gene GUCY2D (17p13·1) with the disease phenotype was excluded as no disease-associated mutation was found in any of its exons. Mutation screening of another candidate gene, AIPL1 located in the same region, showed a novel homozygous C to A substitution in exon 2. These sequence changes are unique for the Pakistani families and some of these have not been reported previously.</description><subject>Adolescent</subject><subject>Adult</subject><subject>AIPL1</subject><subject>Biological and medical sciences</subject><subject>candidate gene</subject><subject>Child</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Chromosomes, Human, Pair 17 - genetics</subject><subject>CRB1</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genotype</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>LCA4</subject><subject>Leber congenital amaurosis</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Miscellaneous</subject><subject>Mutation</subject><subject>Ophthalmology</subject><subject>Optic Atrophy, Hereditary, Leber - genetics</subject><subject>Pedigree</subject><subject>preserved para-arteriolar retinal pigment epithelium (PPRPE)</subject><subject>retinal dystrophies</subject><subject>Retinitis Pigmentosa - genetics</subject><issn>0014-4835</issn><issn>1096-0007</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1P3DAQhi3Uil0-fgJVLkX0EPC3k1OFUGkrbQUScLac8YQassnWTlrx72vYqHvsaTSj550ZPYScMHrOKNMXd5QyWcpKqDPKP1EqaO72yJLRWpeUUvOOLP8hC3KQ0lOeCmnkPlkwrozQWizJ9Y9pdGMY-iJBROxD_1gMbXHrnkMaXR-K1q1DFzAVf8L4s4Chf8zQ6LoCX7DwIQ3RY0xH5H3ruoTHcz0kD9df7q--laubr9-vLlcliJqNpQFVM6iZFo0RVLVaal3VknEOXkkF0DDmNJjGeBS-8c7zWkPbMucqXjVCHJLT7d5NHH5NmEa7Dgmw61yPw5Rs3soY1yaDagtCHFKK2NpNDGsXXyyj9lWgfRNoX-1Yyu2bQCtz7sN8YGrW6Hep2VgGPs6AS-C6NroeQtpxUhnNK5W5z1sOs47fAaNNELAH9CEijNYP4T-v_AUTRYy3</recordid><startdate>20030301</startdate><enddate>20030301</enddate><creator>Khaliq, Shagufta</creator><creator>Abid, Aiysha</creator><creator>Hameed, Abdul</creator><creator>Anwar, Khalid</creator><creator>Mohyuddin, Aisha</creator><creator>Azmat, Zobia</creator><creator>Shami, S.A</creator><creator>Ismail, Muhammad</creator><creator>Mehdi, S.Qasim</creator><general>Elsevier Ltd</general><general>Elsevier</general><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>7X8</scope></search><sort><creationdate>20030301</creationdate><title>Mutation screening of Pakistani families with congenital eye disorders</title><author>Khaliq, Shagufta ; Abid, Aiysha ; Hameed, Abdul ; Anwar, Khalid ; Mohyuddin, Aisha ; Azmat, Zobia ; Shami, S.A ; Ismail, Muhammad ; Mehdi, S.Qasim</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c391t-7c591c9163b7305f6466894122cd545ccb11a6c7b7de3dbdad296cff1aa828b33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>AIPL1</topic><topic>Biological and medical sciences</topic><topic>candidate gene</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Chromosomes, Human, Pair 17 - genetics</topic><topic>CRB1</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Genotype</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>LCA4</topic><topic>Leber congenital amaurosis</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Miscellaneous</topic><topic>Mutation</topic><topic>Ophthalmology</topic><topic>Optic Atrophy, Hereditary, Leber - genetics</topic><topic>Pedigree</topic><topic>preserved para-arteriolar retinal pigment epithelium (PPRPE)</topic><topic>retinal dystrophies</topic><topic>Retinitis Pigmentosa - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Khaliq, Shagufta</creatorcontrib><creatorcontrib>Abid, Aiysha</creatorcontrib><creatorcontrib>Hameed, Abdul</creatorcontrib><creatorcontrib>Anwar, Khalid</creatorcontrib><creatorcontrib>Mohyuddin, Aisha</creatorcontrib><creatorcontrib>Azmat, Zobia</creatorcontrib><creatorcontrib>Shami, S.A</creatorcontrib><creatorcontrib>Ismail, Muhammad</creatorcontrib><creatorcontrib>Mehdi, S.Qasim</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>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Experimental eye research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Khaliq, Shagufta</au><au>Abid, Aiysha</au><au>Hameed, Abdul</au><au>Anwar, Khalid</au><au>Mohyuddin, Aisha</au><au>Azmat, Zobia</au><au>Shami, S.A</au><au>Ismail, Muhammad</au><au>Mehdi, S.Qasim</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation screening of Pakistani families with congenital eye disorders</atitle><jtitle>Experimental eye research</jtitle><addtitle>Exp Eye Res</addtitle><date>2003-03-01</date><risdate>2003</risdate><volume>76</volume><issue>3</issue><spage>343</spage><epage>348</epage><pages>343-348</pages><issn>0014-4835</issn><eissn>1096-0007</eissn><coden>EXERA6</coden><abstract>To map the disease loci several Pakistani families suffering from autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium and Leber congenital amaurosis (LCA) were analyzed. Analysis revealed close genetic linkage between the disease phenotype of some of the families (3330RP, 111RP and 010LCA) and the microsatellite markers on chromosome 1q31. Mutation screening of the candidate gene CRB1 revealed a G to A transversion in exon 7 in arRP family 330RP and a T to C substitution in another arRP family, 111RP. In exon 9 of the CRB1 gene a T to C transversion was found in the family suffering from LCA (010LCA).
The LCA phenotype of another family (011LCA) in which the CRB1 locus was excluded, showed linkage with microsatellite markers D17S1294 and D17S796 on chromosome 17p13·1. The association of the candidate gene GUCY2D (17p13·1) with the disease phenotype was excluded as no disease-associated mutation was found in any of its exons. Mutation screening of another candidate gene, AIPL1 located in the same region, showed a novel homozygous C to A substitution in exon 2. These sequence changes are unique for the Pakistani families and some of these have not been reported previously.</abstract><cop>London</cop><pub>Elsevier Ltd</pub><pmid>12573663</pmid><doi>10.1016/S0014-4835(02)00304-4</doi><tpages>6</tpages></addata></record> |
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| subjects | Adolescent Adult AIPL1 Biological and medical sciences candidate gene Child Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 17 - genetics CRB1 DNA Mutational Analysis Female Genotype Heterozygote Humans LCA4 Leber congenital amaurosis Male Medical sciences Miscellaneous Mutation Ophthalmology Optic Atrophy, Hereditary, Leber - genetics Pedigree preserved para-arteriolar retinal pigment epithelium (PPRPE) retinal dystrophies Retinitis Pigmentosa - genetics |
| title | Mutation screening of Pakistani families with congenital eye disorders |
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