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Inherited Structural Polymorphism of the Fourth Component of Human Complement
Human fourth component of complement (C4) was found to be highly polymorphic by agarose gel electrophoresis of neuraminidase-treated plasma. The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six str...
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Published in: | Proceedings of the National Academy of Sciences - PNAS 1980-06, Vol.77 (6), p.3576-3580 |
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container_title | Proceedings of the National Academy of Sciences - PNAS |
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creator | Awdeh, Zuheir L. Alper, Chester A. |
description | Human fourth component of complement (C4) was found to be highly polymorphic by agarose gel electrophoresis of neuraminidase-treated plasma. The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six structural variants and a deletion allele at the C4A locus and two structural variants and a deletion allele at the C4B locus. Close linkage with no crossovers was found between the two C4 loci, allowing the definition of C4AB haplotypes, and between C4 haplotypes and the C2 and BF loci of the human histocompatibility complex. Nine C4 haplotypes, each with a frequency of 0.005 or more in Caucasians, were found. These studies provide direct evidence for two distinct but closely linked genetic loci for human C4 in the major histocompatibility complex on the short arm of chromosome 6. |
doi_str_mv | 10.1073/pnas.77.6.3576 |
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The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six structural variants and a deletion allele at the C4A locus and two structural variants and a deletion allele at the C4B locus. Close linkage with no crossovers was found between the two C4 loci, allowing the definition of C4AB haplotypes, and between C4 haplotypes and the C2 and BF loci of the human histocompatibility complex. Nine C4 haplotypes, each with a frequency of 0.005 or more in Caucasians, were found. 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The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six structural variants and a deletion allele at the C4A locus and two structural variants and a deletion allele at the C4B locus. Close linkage with no crossovers was found between the two C4 loci, allowing the definition of C4AB haplotypes, and between C4 haplotypes and the C2 and BF loci of the human histocompatibility complex. Nine C4 haplotypes, each with a frequency of 0.005 or more in Caucasians, were found. These studies provide direct evidence for two distinct but closely linked genetic loci for human C4 in the major histocompatibility complex on the short arm of chromosome 6.</description><subject>Alleles</subject><subject>Blood plasma</subject><subject>Chromosomes</subject><subject>Complement C4 - genetics</subject><subject>Electrophoresis</subject><subject>Electrophoresis, Agar Gel</subject><subject>Gels</subject><subject>Gene Frequency</subject><subject>Genetic Linkage</subject><subject>Genetic loci</subject><subject>Haplotypes</subject><subject>Heterozygotes</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Immunoelectrophoresis</subject><subject>Major Histocompatibility Complex</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Polymorphism, Genetic</subject><issn>0027-8424</issn><issn>1091-6490</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1980</creationdate><recordtype>article</recordtype><recordid>eNp9kMFLwzAYxYMoc06vggehJ2-tSZMlzcGDDOcGEwX1HJI2tR1tU5JU3H9v6-aYF08fee_9vi88AC4RjBBk-LZtpIsYi2iEp4wegTGCHIWUcHgMxhDGLExITE7BmXNrCCGfJnAERpTjGGI2Bk_LptC29DoLXr3tUt9ZWQUvptrUxrZF6erA5IEvdDA3nfVFMDN1axrd-EFfdLVsfqRK1712Dk5yWTl9sZsT8D5_eJstwtXz43J2vwpTjDkNleKQZjqlMVU5QrFilKD-LZlMEOJIklRnnHBFE4kVZAgSlkudUZ4qnMgcT8Dddm_bqVpnaX-6_7ZobVlLuxFGluKv05SF-DCfAhNOKez5aMun1jhndb5HERRDrWKoVTAmqBhq7YHrw4P7-K7HA3_gft1D_uY_X-RdVXn95fvg1Ta4dt7YfTLhGONvMH2W3Q</recordid><startdate>19800601</startdate><enddate>19800601</enddate><creator>Awdeh, Zuheir L.</creator><creator>Alper, Chester A.</creator><general>National Academy of Sciences of the United States of America</general><general>National Acad Sciences</general><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>5PM</scope></search><sort><creationdate>19800601</creationdate><title>Inherited Structural Polymorphism of the Fourth Component of Human Complement</title><author>Awdeh, Zuheir L. ; Alper, Chester A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3396-bb906dec626bf112b7641deca7a81191a4ced949b68a3b071047faed69cb38af3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1980</creationdate><topic>Alleles</topic><topic>Blood plasma</topic><topic>Chromosomes</topic><topic>Complement C4 - genetics</topic><topic>Electrophoresis</topic><topic>Electrophoresis, Agar Gel</topic><topic>Gels</topic><topic>Gene Frequency</topic><topic>Genetic Linkage</topic><topic>Genetic loci</topic><topic>Haplotypes</topic><topic>Heterozygotes</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Immunoelectrophoresis</topic><topic>Major Histocompatibility Complex</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Polymorphism, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Awdeh, Zuheir L.</creatorcontrib><creatorcontrib>Alper, Chester A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Awdeh, Zuheir L.</au><au>Alper, Chester A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inherited Structural Polymorphism of the Fourth Component of Human Complement</atitle><jtitle>Proceedings of the National Academy of Sciences - PNAS</jtitle><addtitle>Proc Natl Acad Sci U S A</addtitle><date>1980-06-01</date><risdate>1980</risdate><volume>77</volume><issue>6</issue><spage>3576</spage><epage>3580</epage><pages>3576-3580</pages><issn>0027-8424</issn><eissn>1091-6490</eissn><abstract>Human fourth component of complement (C4) was found to be highly polymorphic by agarose gel electrophoresis of neuraminidase-treated plasma. The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six structural variants and a deletion allele at the C4A locus and two structural variants and a deletion allele at the C4B locus. Close linkage with no crossovers was found between the two C4 loci, allowing the definition of C4AB haplotypes, and between C4 haplotypes and the C2 and BF loci of the human histocompatibility complex. Nine C4 haplotypes, each with a frequency of 0.005 or more in Caucasians, were found. These studies provide direct evidence for two distinct but closely linked genetic loci for human C4 in the major histocompatibility complex on the short arm of chromosome 6.</abstract><cop>United States</cop><pub>National Academy of Sciences of the United States of America</pub><pmid>6932037</pmid><doi>10.1073/pnas.77.6.3576</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Alleles Blood plasma Chromosomes Complement C4 - genetics Electrophoresis Electrophoresis, Agar Gel Gels Gene Frequency Genetic Linkage Genetic loci Haplotypes Heterozygotes Human genetics Humans Immunoelectrophoresis Major Histocompatibility Complex Phenotype Phenotypes Polymorphism, Genetic |
title | Inherited Structural Polymorphism of the Fourth Component of Human Complement |
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