Molecular analysis of cystic fibrosis in the Hungarian population
Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms...
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| Veröffentlicht in: | Human genetics 1991-08, Vol.87 (4), p.511-512 |
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| container_title | Human genetics |
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| creator | NEMETI, M LOUIE, E PAPP, Z JOHNSON, J. P |
| description | Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene. The delta F508 deletion was present in 64% of CF chromosomes. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV-2c: allele 1, KM-19: allele 2), which accounts for 95% of delta F508 CF chromosomes in our families. |
| doi_str_mv | 10.1007/BF00197180 |
| format | Article |
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As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV-2c: allele 1, KM-19: allele 2), which accounts for 95% of delta F508 CF chromosomes in our families.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00197180</identifier><identifier>PMID: 1715311</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Biological and medical sciences ; Cystic Fibrosis - ethnology ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; Gastroenterology. Liver. Pancreas. Abdomen ; Genetic Linkage ; Genetics, Population ; Haplotypes ; Humans ; Hungary ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Medical sciences ; Membrane Proteins - genetics ; Mutation ; Other diseases. 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P</creatorcontrib><title>Molecular analysis of cystic fibrosis in the Hungarian population</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene. The delta F508 deletion was present in 64% of CF chromosomes. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV-2c: allele 1, KM-19: allele 2), which accounts for 95% of delta F508 CF chromosomes in our families.</description><subject>Biological and medical sciences</subject><subject>Cystic Fibrosis - ethnology</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genetic Linkage</subject><subject>Genetics, Population</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Hungary</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation</subject><subject>Other diseases. Semiology</subject><subject>Polymorphism, Restriction Fragment Length</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0D1PwzAQBmALgUopLOxIGRADUuDOH3EzQkUpUhELzJHrnsEoTYqdDP33uGpFR6aTfI9Pdy9jlwh3CKDvH6cAWGocwxEbohQ8Rw7imA1BSMgLjfqUncX4nZQquRqwAWpUAnHIHl7bmmxfm5CZxtSb6GPWusxuYudt5vwitNsn32TdF2Wzvvk0wZsmW7fr9KnzbXPOTpypI13s64h9TJ_eJ7N8_vb8MnmY51ZI3uVajMk4x9NiVhckHWm5RHRLCaUlKkGS4dJxA4q4wIKwKHiJYJMouORixG52c9eh_ekpdtXKR0t1bRpq-1hpDmpcKv0vxAKg0LpM8HYHbToyBnLVOviVCZsKodoGWx2CTfhqP7VfrGh5oLskU_963zfRmtoF01gf_5hCpTlH8QtBJH4K</recordid><startdate>19910801</startdate><enddate>19910801</enddate><creator>NEMETI, M</creator><creator>LOUIE, E</creator><creator>PAPP, Z</creator><creator>JOHNSON, J. P</creator><general>Springer</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19910801</creationdate><title>Molecular analysis of cystic fibrosis in the Hungarian population</title><author>NEMETI, M ; LOUIE, E ; PAPP, Z ; JOHNSON, J. P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c342t-738eaff2203c76e4fe74d11fd409cee904ea24f2a05e2316e1662910cfd462423</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Biological and medical sciences</topic><topic>Cystic Fibrosis - ethnology</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Genetic Linkage</topic><topic>Genetics, Population</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Hungary</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation</topic><topic>Other diseases. Semiology</topic><topic>Polymorphism, Restriction Fragment Length</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>NEMETI, M</creatorcontrib><creatorcontrib>LOUIE, E</creatorcontrib><creatorcontrib>PAPP, Z</creatorcontrib><creatorcontrib>JOHNSON, J. 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P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular analysis of cystic fibrosis in the Hungarian population</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1991-08-01</date><risdate>1991</risdate><volume>87</volume><issue>4</issue><spage>511</spage><epage>512</epage><pages>511-512</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene. The delta F508 deletion was present in 64% of CF chromosomes. 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| fulltext | fulltext |
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| ispartof | Human genetics, 1991-08, Vol.87 (4), p.511-512 |
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| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Biological and medical sciences Cystic Fibrosis - ethnology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator Gastroenterology. Liver. Pancreas. Abdomen Genetic Linkage Genetics, Population Haplotypes Humans Hungary Liver. Biliary tract. Portal circulation. Exocrine pancreas Medical sciences Membrane Proteins - genetics Mutation Other diseases. Semiology Polymorphism, Restriction Fragment Length |
| title | Molecular analysis of cystic fibrosis in the Hungarian population |
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