Family and population studies on the human pepsinogen A multigene family
Human pepsinogen A (PGA) displays highly polymorphic isozymogen patterns after polyacrylamide gel electrophoresis and activity staining. The patterns differ with respect to the presence and the relative intensity of the individual fractions. Family studies strongly suggest that these isozymogen patt...
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| Veröffentlicht in: | Human genetics 1989-05, Vol.82 (2), p.142-146 |
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| container_title | Human genetics |
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| creator | BEBELMAN, J. P EVERS, M. P. J ZELLE, B BANK, R PRONK, J. C MEUWISSEN, S. G. M MAGER, W. H PLANTA, R. J ERIKSSON, A. W FRANTS, R. R |
| description | Human pepsinogen A (PGA) displays highly polymorphic isozymogen patterns after polyacrylamide gel electrophoresis and activity staining. The patterns differ with respect to the presence and the relative intensity of the individual fractions. Family studies strongly suggest that these isozymogen patterns are encoded by allelic haplotypes, encompassing different numbers and types of PGA genes. In this paper, we confirm the essential features of this multigene model. We establish the relationship between the haplotypes and the corresponding isozymogen patterns by determination of the PGA polymorphism at both the DNA and the protein level in 117 Dutch individuals, 60 of whom were unrelated. The combination of HindIII and EcoRI restriction fragment length polymorphisms (RFLPs) has enabled us to define different haplotypes, which are shown to segregate within families. Most genes are characterized by their specific EcoRI fragments. The HindIII RFLP is in strong linkage disequilibrium with PGA genes showing strong expression of the relevant isozymogen. Although a general picture of the relationship between genotypes and phenotypes is emerging, there are exceptions, suggesting that rare haplotypes evolve by unique crossover events. |
| doi_str_mv | 10.1007/bf00284047 |
| format | Article |
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P ; EVERS, M. P. J ; ZELLE, B ; BANK, R ; PRONK, J. C ; MEUWISSEN, S. G. M ; MAGER, W. H ; PLANTA, R. J ; ERIKSSON, A. W ; FRANTS, R. R</creator><creatorcontrib>BEBELMAN, J. P ; EVERS, M. P. J ; ZELLE, B ; BANK, R ; PRONK, J. C ; MEUWISSEN, S. G. M ; MAGER, W. H ; PLANTA, R. J ; ERIKSSON, A. W ; FRANTS, R. R</creatorcontrib><description>Human pepsinogen A (PGA) displays highly polymorphic isozymogen patterns after polyacrylamide gel electrophoresis and activity staining. The patterns differ with respect to the presence and the relative intensity of the individual fractions. Family studies strongly suggest that these isozymogen patterns are encoded by allelic haplotypes, encompassing different numbers and types of PGA genes. In this paper, we confirm the essential features of this multigene model. We establish the relationship between the haplotypes and the corresponding isozymogen patterns by determination of the PGA polymorphism at both the DNA and the protein level in 117 Dutch individuals, 60 of whom were unrelated. The combination of HindIII and EcoRI restriction fragment length polymorphisms (RFLPs) has enabled us to define different haplotypes, which are shown to segregate within families. Most genes are characterized by their specific EcoRI fragments. The HindIII RFLP is in strong linkage disequilibrium with PGA genes showing strong expression of the relevant isozymogen. Although a general picture of the relationship between genotypes and phenotypes is emerging, there are exceptions, suggesting that rare haplotypes evolve by unique crossover events.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/bf00284047</identifier><identifier>PMID: 2566575</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Biological and medical sciences ; Classical genetics, quantitative genetics, hybrids ; DNA - analysis ; DNA Restriction Enzymes ; Electrophoresis, Polyacrylamide Gel ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. 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In this paper, we confirm the essential features of this multigene model. We establish the relationship between the haplotypes and the corresponding isozymogen patterns by determination of the PGA polymorphism at both the DNA and the protein level in 117 Dutch individuals, 60 of whom were unrelated. The combination of HindIII and EcoRI restriction fragment length polymorphisms (RFLPs) has enabled us to define different haplotypes, which are shown to segregate within families. Most genes are characterized by their specific EcoRI fragments. The HindIII RFLP is in strong linkage disequilibrium with PGA genes showing strong expression of the relevant isozymogen. Although a general picture of the relationship between genotypes and phenotypes is emerging, there are exceptions, suggesting that rare haplotypes evolve by unique crossover events.</description><subject>Biological and medical sciences</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>DNA - analysis</subject><subject>DNA Restriction Enzymes</subject><subject>Electrophoresis, Polyacrylamide Gel</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Human</subject><subject>Humans</subject><subject>Multigene Family</subject><subject>Pedigree</subject><subject>Pepsinogens - genetics</subject><subject>Phenotype</subject><subject>Polymorphism, Restriction Fragment Length</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0L1PwzAQBXALgUopLOxIHhADUuDsxLE9QkUpUiUWmCPHOVOjfBEnQ_97Ag1dme5J99MbHiGXDO4YgLzPHQBXCSTyiMxZEvOIcYiPyRziBKJUMnlKzkL4BGBCczEjMy7SVEgxJ-uVqXy5o6YuaNu0Q2l639Q09EPhMdAx9luk26EyNW2xDb5uPrCmD7Qayt6PEan7bTgnJ86UAS-muyDvq6e35TravD6_LB82kU1A9REHXRTaSkwgF9pwFUvDLYDJEVwyGqaZLXKNKrfGCNSCgZWp0JYLZwsWL8jNvrftmq8BQ59VPlgsS1NjM4RMKq0h5fG_kAkFUnI5wts9tF0TQocuaztfmW6XMch-9s0eV3_7jvhqah3yCosDnQYd_9fT3wRrSteZ2vpwYJILxVUafwMi3oGP</recordid><startdate>19890501</startdate><enddate>19890501</enddate><creator>BEBELMAN, J. 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Biological and molecular evolution</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Human</topic><topic>Humans</topic><topic>Multigene Family</topic><topic>Pedigree</topic><topic>Pepsinogens - genetics</topic><topic>Phenotype</topic><topic>Polymorphism, Restriction Fragment Length</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BEBELMAN, J. P</creatorcontrib><creatorcontrib>EVERS, M. P. J</creatorcontrib><creatorcontrib>ZELLE, B</creatorcontrib><creatorcontrib>BANK, R</creatorcontrib><creatorcontrib>PRONK, J. C</creatorcontrib><creatorcontrib>MEUWISSEN, S. G. M</creatorcontrib><creatorcontrib>MAGER, W. H</creatorcontrib><creatorcontrib>PLANTA, R. J</creatorcontrib><creatorcontrib>ERIKSSON, A. W</creatorcontrib><creatorcontrib>FRANTS, R. 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R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Family and population studies on the human pepsinogen A multigene family</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1989-05-01</date><risdate>1989</risdate><volume>82</volume><issue>2</issue><spage>142</spage><epage>146</epage><pages>142-146</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Human pepsinogen A (PGA) displays highly polymorphic isozymogen patterns after polyacrylamide gel electrophoresis and activity staining. The patterns differ with respect to the presence and the relative intensity of the individual fractions. Family studies strongly suggest that these isozymogen patterns are encoded by allelic haplotypes, encompassing different numbers and types of PGA genes. In this paper, we confirm the essential features of this multigene model. We establish the relationship between the haplotypes and the corresponding isozymogen patterns by determination of the PGA polymorphism at both the DNA and the protein level in 117 Dutch individuals, 60 of whom were unrelated. The combination of HindIII and EcoRI restriction fragment length polymorphisms (RFLPs) has enabled us to define different haplotypes, which are shown to segregate within families. Most genes are characterized by their specific EcoRI fragments. The HindIII RFLP is in strong linkage disequilibrium with PGA genes showing strong expression of the relevant isozymogen. Although a general picture of the relationship between genotypes and phenotypes is emerging, there are exceptions, suggesting that rare haplotypes evolve by unique crossover events.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>2566575</pmid><doi>10.1007/bf00284047</doi><tpages>5</tpages></addata></record> |
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| subjects | Biological and medical sciences Classical genetics, quantitative genetics, hybrids DNA - analysis DNA Restriction Enzymes Electrophoresis, Polyacrylamide Gel Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Genotype Haplotypes Human Humans Multigene Family Pedigree Pepsinogens - genetics Phenotype Polymorphism, Restriction Fragment Length |
| title | Family and population studies on the human pepsinogen A multigene family |
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