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Linkage Disequilibrium Utilized to Establish a Refined Genetic Position of the Salla Disease Locus on 6q14-q15
Salla disease (SD), an inherited free sialic acid storage disorder, is caused by impaired transport of free sialic acid across the lysosomal membrane. Clinical characteristics of the disease include severe psychomotor retardation and some neurological abnormalities. We report here detailed linkage a...
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Published in: | Genomics (San Diego, Calif.) Calif.), 1995-05, Vol.27 (2), p.286-292 |
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container_title | Genomics (San Diego, Calif.) |
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creator | Schleutker, Johanna Laine, Antti-Pekka Haataja, Leena Renlund, Martin Weissenbach, Jean Aula, Pertti Peltonen, Leena |
description | Salla disease (SD), an inherited free sialic acid storage disorder, is caused by impaired transport of free sialic acid across the lysosomal membrane. Clinical characteristics of the disease include severe psychomotor retardation and some neurological abnormalities. We report here detailed linkage analyses of 50 Finnish SD families that localize the SD disease gene to a refined chromosomal area on 6q14-q15. The highest lod score of 17.30 was obtained with a microsatellite marker of locus D6S280. When linkage disequilibrium was adopted in the linkage analyses, we could further assign the SD locus to the immediate vicinity of marker locus D6S406. Linkage disequilibrium facilitated further restriction of the critical chromosomal region to approximately 80 kb, well within the limits of positional cloning techniques. |
doi_str_mv | 10.1006/geno.1995.1044 |
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Linkage disequilibrium facilitated further restriction of the critical chromosomal region to approximately 80 kb, well within the limits of positional cloning techniques.</description><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 6</subject><subject>DNA - analysis</subject><subject>Female</subject><subject>Finland</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Linkage Disequilibrium</subject><subject>Lod Score</subject><subject>Lysosomal Storage Diseases - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous</subject><subject>N-Acetylneuraminic Acid</subject><subject>Other metabolic disorders</subject><subject>Sialic Acids - genetics</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><recordid>eNp1kM9PHCEUx0nTRlfba28mHBpvs4UZYOBorL-STTS2ngkDb5Q6Cy4wTdq_Xra78WY48OD7eS8vH4S-UrKkhIjvjxDikirF65OxD2hBiVSNFEx8RAsipWx6zrpDdJTzb0KI6mR7gA56znul2AKFlQ_P5hHwD59hM_vJD8nPa_xQavkPHC4RX-RihsnnJ2zwPYw-1O8rCFC8xXcx--JjwHHE5QnwTzNN5v8wkwGvop0zrqnYUNZsKP-MPo1myvBlfx-jh8uLX-fXzer26ub8bNXYTrHS9JKPtbDOMO5aSp0QnKrROGZGYwlv1WClILSV4FQ7DH1bjxRAJe0kB9sdo9Pd3JcUNzPkotc-W6i7BYhz1n0vWtJJVsHlDrQp5pxg1C_Jr036qynRW8F6K1hvBeut4Npwsp88D2twb_jeaM2_7XOTrZnGZIL1-Q3ruCRCqIrJHQbVwh8PSWfrIVhwPoEt2kX_3gav6Y6V-A</recordid><startdate>19950520</startdate><enddate>19950520</enddate><creator>Schleutker, Johanna</creator><creator>Laine, Antti-Pekka</creator><creator>Haataja, Leena</creator><creator>Renlund, Martin</creator><creator>Weissenbach, Jean</creator><creator>Aula, Pertti</creator><creator>Peltonen, Leena</creator><general>Elsevier Inc</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>19950520</creationdate><title>Linkage Disequilibrium Utilized to Establish a Refined Genetic Position of the Salla Disease Locus on 6q14-q15</title><author>Schleutker, Johanna ; Laine, Antti-Pekka ; Haataja, Leena ; Renlund, Martin ; Weissenbach, Jean ; Aula, Pertti ; Peltonen, Leena</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c394t-785f394cda45d211d66519fad4afac0529bc860128ed92bb7272786e181385ec3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 6</topic><topic>DNA - analysis</topic><topic>Female</topic><topic>Finland</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Linkage Disequilibrium</topic><topic>Lod Score</topic><topic>Lysosomal Storage Diseases - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous</topic><topic>N-Acetylneuraminic Acid</topic><topic>Other metabolic disorders</topic><topic>Sialic Acids - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Schleutker, Johanna</creatorcontrib><creatorcontrib>Laine, Antti-Pekka</creatorcontrib><creatorcontrib>Haataja, Leena</creatorcontrib><creatorcontrib>Renlund, Martin</creatorcontrib><creatorcontrib>Weissenbach, Jean</creatorcontrib><creatorcontrib>Aula, Pertti</creatorcontrib><creatorcontrib>Peltonen, Leena</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>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Schleutker, Johanna</au><au>Laine, Antti-Pekka</au><au>Haataja, Leena</au><au>Renlund, Martin</au><au>Weissenbach, Jean</au><au>Aula, Pertti</au><au>Peltonen, Leena</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Linkage Disequilibrium Utilized to Establish a Refined Genetic Position of the Salla Disease Locus on 6q14-q15</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1995-05-20</date><risdate>1995</risdate><volume>27</volume><issue>2</issue><spage>286</spage><epage>292</epage><pages>286-292</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Salla disease (SD), an inherited free sialic acid storage disorder, is caused by impaired transport of free sialic acid across the lysosomal membrane. Clinical characteristics of the disease include severe psychomotor retardation and some neurological abnormalities. We report here detailed linkage analyses of 50 Finnish SD families that localize the SD disease gene to a refined chromosomal area on 6q14-q15. The highest lod score of 17.30 was obtained with a microsatellite marker of locus D6S280. When linkage disequilibrium was adopted in the linkage analyses, we could further assign the SD locus to the immediate vicinity of marker locus D6S406. Linkage disequilibrium facilitated further restriction of the critical chromosomal region to approximately 80 kb, well within the limits of positional cloning techniques.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>7557994</pmid><doi>10.1006/geno.1995.1044</doi><tpages>7</tpages></addata></record> |
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source | ScienceDirect Journals |
subjects | Alleles Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 6 DNA - analysis Female Finland Haplotypes Humans Linkage Disequilibrium Lod Score Lysosomal Storage Diseases - genetics Male Medical sciences Metabolic diseases Miscellaneous N-Acetylneuraminic Acid Other metabolic disorders Sialic Acids - genetics |
title | Linkage Disequilibrium Utilized to Establish a Refined Genetic Position of the Salla Disease Locus on 6q14-q15 |
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