Genetic analysis of C4 deficiency
The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detec...
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| Veröffentlicht in: | The Journal of clinical investigation 1981-01, Vol.67 (1), p.260-263 |
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| container_title | The Journal of clinical investigation |
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| creator | Awdeh, Z L Ochs, H D Alper, C A |
| description | The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes. |
| doi_str_mv | 10.1172/JCI110021 |
| format | Article |
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It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes.</description><identifier>ISSN: 0021-9738</identifier><identifier>DOI: 10.1172/JCI110021</identifier><identifier>PMID: 7451653</identifier><language>eng</language><publisher>United States</publisher><subject>Chromosome Mapping ; Complement C4 - deficiency ; Complement C4 - genetics ; Female ; Genes ; Genotype ; Humans ; Immunologic Deficiency Syndromes - genetics ; Male ; Pedigree</subject><ispartof>The Journal of clinical investigation, 1981-01, Vol.67 (1), p.260-263</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c369t-ee9c6c38579d063367a98ecfb12c79bfc97e214f5fc2bd742b1eb9ea361857e73</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC371595/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC371595/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,53770,53772</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7451653$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Awdeh, Z L</creatorcontrib><creatorcontrib>Ochs, H D</creatorcontrib><creatorcontrib>Alper, C A</creatorcontrib><title>Genetic analysis of C4 deficiency</title><title>The Journal of clinical investigation</title><addtitle>J Clin Invest</addtitle><description>The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes.</description><subject>Chromosome Mapping</subject><subject>Complement C4 - deficiency</subject><subject>Complement C4 - genetics</subject><subject>Female</subject><subject>Genes</subject><subject>Genotype</subject><subject>Humans</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Male</subject><subject>Pedigree</subject><issn>0021-9738</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1981</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkD1PwzAQhj2ASikM_ACksCAxBHz-iOOBAUVQiiqxwGw5zhmM0qTEKVL-PalaVTC9wz3P3ekl5ALoLYBidy_FAoBSBkdkuo1UK56fkNMYvygFIaSYkIkSEjLJp-Rqjg32wSW2sfUQQ0xanxQiqdAHF7Bxwxk59raOeL7PGXl_enwrntPl63xRPCxTxzPdp4jaZY7nUumKZpxnyuocnS-BOaVL77RCBsJL71hZKcFKwFKj5RmMDio-I_e7vetNucLKYdN3tjbrLqxsN5jWBvN_0oRP89H-GK5Aajn613u_a783GHuzCtFhXdsG2000SkrGtcpH8GYHuq6NsUN_uAHUbCs0hwpH9vLvUwdy3x__BRl9bTs</recordid><startdate>198101</startdate><enddate>198101</enddate><creator>Awdeh, Z L</creator><creator>Ochs, H D</creator><creator>Alper, C A</creator><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><scope>5PM</scope></search><sort><creationdate>198101</creationdate><title>Genetic analysis of C4 deficiency</title><author>Awdeh, Z L ; Ochs, H D ; Alper, C A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c369t-ee9c6c38579d063367a98ecfb12c79bfc97e214f5fc2bd742b1eb9ea361857e73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1981</creationdate><topic>Chromosome Mapping</topic><topic>Complement C4 - deficiency</topic><topic>Complement C4 - genetics</topic><topic>Female</topic><topic>Genes</topic><topic>Genotype</topic><topic>Humans</topic><topic>Immunologic Deficiency Syndromes - genetics</topic><topic>Male</topic><topic>Pedigree</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Awdeh, Z L</creatorcontrib><creatorcontrib>Ochs, H D</creatorcontrib><creatorcontrib>Alper, C 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>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of clinical investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Awdeh, Z L</au><au>Ochs, H D</au><au>Alper, C A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic analysis of C4 deficiency</atitle><jtitle>The Journal of clinical investigation</jtitle><addtitle>J Clin Invest</addtitle><date>1981-01</date><risdate>1981</risdate><volume>67</volume><issue>1</issue><spage>260</spage><epage>263</epage><pages>260-263</pages><issn>0021-9738</issn><abstract>The inherited structural polymorphism in the fourth component of complement was studied in the family of a child with homozygous deficiency of this protein. It was shown that a number of family members, including the child's parents, carried a C4 haplotype, C4A*QO C4B*QO, that produced no detectable protein at either the Chido (C4B) or Rodgers (C4A) locus. The family contained individuals with one, two, three, or four expressed C4 genes, and the mean serum C4 levels in such individuals roughly reflected the number of structural genes.</abstract><cop>United States</cop><pmid>7451653</pmid><doi>10.1172/JCI110021</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0021-9738 |
| ispartof | The Journal of clinical investigation, 1981-01, Vol.67 (1), p.260-263 |
| issn | 0021-9738 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_371595 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Chromosome Mapping Complement C4 - deficiency Complement C4 - genetics Female Genes Genotype Humans Immunologic Deficiency Syndromes - genetics Male Pedigree |
| title | Genetic analysis of C4 deficiency |
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