A TaqI polymorphism in the human erythroid β spectrin gene
Human erythroid spectrin consists of an alpha beta heterodimer. Abnormalities of spectrin are a common cause of hereditary haemolytic anaemias such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to establish which of th...
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| Veröffentlicht in: | Human genetics 1995-03, Vol.95 (3), p.365-366 |
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| container_title | Human genetics |
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| creator | BEETON, L PRCHAL, J. T COETZER, T. L |
| description | Human erythroid spectrin consists of an alpha beta heterodimer. Abnormalities of spectrin are a common cause of hereditary haemolytic anaemias such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to establish which of the spectrin subunits is defective. For this purpose, the beta spectrin restriction fragment length polymorphism (RFLP) we describe here will be useful in linkage analysis. The elucidation of an Ala-->Gly beta spectrin gene mutation in a family with HE, highlights the importance of this TaqI polymorphism in establishing linkage. |
| doi_str_mv | 10.1007/BF00225212 |
| format | Article |
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T ; COETZER, T. L</creator><creatorcontrib>BEETON, L ; PRCHAL, J. T ; COETZER, T. L</creatorcontrib><description>Human erythroid spectrin consists of an alpha beta heterodimer. Abnormalities of spectrin are a common cause of hereditary haemolytic anaemias such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to establish which of the spectrin subunits is defective. For this purpose, the beta spectrin restriction fragment length polymorphism (RFLP) we describe here will be useful in linkage analysis. The elucidation of an Ala-->Gly beta spectrin gene mutation in a family with HE, highlights the importance of this TaqI polymorphism in establishing linkage.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00225212</identifier><identifier>PMID: 7868137</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Alanine - genetics ; beta chain ; Biological and medical sciences ; Classical genetics, quantitative genetics, hybrids ; deoxyribonuclease TaqI ; Deoxyribonucleases, Type II Site-Specific ; DNA Mutational Analysis ; Elliptocytosis, Hereditary - genetics ; erythrocytes ; Fundamental and applied biological sciences. Psychology ; Genes ; Genetics of eukaryotes. Biological and molecular evolution ; Glycine - genetics ; hemoglobinopathy ; hereditary diseases ; Human ; Humans ; linkage analysis ; man ; Point Mutation ; Polymorphism, Restriction Fragment Length ; restriction fragment length polymorphism ; spectrin ; Spectrin - chemistry ; Spectrin - genetics</subject><ispartof>Human genetics, 1995-03, Vol.95 (3), p.365-366</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3418782$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7868137$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BEETON, L</creatorcontrib><creatorcontrib>PRCHAL, J. T</creatorcontrib><creatorcontrib>COETZER, T. L</creatorcontrib><title>A TaqI polymorphism in the human erythroid β spectrin gene</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Human erythroid spectrin consists of an alpha beta heterodimer. Abnormalities of spectrin are a common cause of hereditary haemolytic anaemias such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to establish which of the spectrin subunits is defective. For this purpose, the beta spectrin restriction fragment length polymorphism (RFLP) we describe here will be useful in linkage analysis. The elucidation of an Ala-->Gly beta spectrin gene mutation in a family with HE, highlights the importance of this TaqI polymorphism in establishing linkage.</description><subject>Alanine - genetics</subject><subject>beta chain</subject><subject>Biological and medical sciences</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>deoxyribonuclease TaqI</subject><subject>Deoxyribonucleases, Type II Site-Specific</subject><subject>DNA Mutational Analysis</subject><subject>Elliptocytosis, Hereditary - genetics</subject><subject>erythrocytes</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genes</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Glycine - genetics</subject><subject>hemoglobinopathy</subject><subject>hereditary diseases</subject><subject>Human</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>man</subject><subject>Point Mutation</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>restriction fragment length polymorphism</subject><subject>spectrin</subject><subject>Spectrin - chemistry</subject><subject>Spectrin - genetics</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkL1OwzAUhS0EKqWwsCN5QGwBXzv-iZhKRaFSJZYyR47tkKD81U6GvBYPwjMRiYiV6Q7fp6NzLkLXQO6BEPnwtCWEUk6BnqAlxIxGQAk7RUvCYhIJCfIcXYTwSQjwhPIFWkglFDC5RI9rfNDHHe7aaqxb3xVlqHHZ4L5wuBhq3WDnx77wbWnx9xcOnTO9n_iHa9wlOst1FdzVfFfofft82LxG-7eX3Wa9jzoqRB8ZsBkTTEmhqFFWykzHTjEqbZJDnCcJYQyMnXpnlHNr85g5AjSRCckzIzK2Qne_uZ1vj4MLfVqXwbiq0o1rh5BKCXzaq_4VQUjOGaeTeDOLQ1Y7m3a-rLUf0_ktE7-duQ5GV7nXjSnDn8ZiUFJR9gMu_W6v</recordid><startdate>19950301</startdate><enddate>19950301</enddate><creator>BEETON, L</creator><creator>PRCHAL, J. T</creator><creator>COETZER, T. L</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>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>7X8</scope></search><sort><creationdate>19950301</creationdate><title>A TaqI polymorphism in the human erythroid β spectrin gene</title><author>BEETON, L ; PRCHAL, J. T ; COETZER, T. L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p266t-c1db36387682c8d77ba4e8327d9f14f990331cd143b255ddf43e0129790fbc6b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Alanine - genetics</topic><topic>beta chain</topic><topic>Biological and medical sciences</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>deoxyribonuclease TaqI</topic><topic>Deoxyribonucleases, Type II Site-Specific</topic><topic>DNA Mutational Analysis</topic><topic>Elliptocytosis, Hereditary - genetics</topic><topic>erythrocytes</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genes</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Glycine - genetics</topic><topic>hemoglobinopathy</topic><topic>hereditary diseases</topic><topic>Human</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>man</topic><topic>Point Mutation</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>restriction fragment length polymorphism</topic><topic>spectrin</topic><topic>Spectrin - chemistry</topic><topic>Spectrin - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BEETON, L</creatorcontrib><creatorcontrib>PRCHAL, J. T</creatorcontrib><creatorcontrib>COETZER, T. L</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>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BEETON, L</au><au>PRCHAL, J. T</au><au>COETZER, T. L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A TaqI polymorphism in the human erythroid β spectrin gene</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1995-03-01</date><risdate>1995</risdate><volume>95</volume><issue>3</issue><spage>365</spage><epage>366</epage><pages>365-366</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Human erythroid spectrin consists of an alpha beta heterodimer. Abnormalities of spectrin are a common cause of hereditary haemolytic anaemias such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to establish which of the spectrin subunits is defective. For this purpose, the beta spectrin restriction fragment length polymorphism (RFLP) we describe here will be useful in linkage analysis. The elucidation of an Ala-->Gly beta spectrin gene mutation in a family with HE, highlights the importance of this TaqI polymorphism in establishing linkage.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>7868137</pmid><doi>10.1007/BF00225212</doi><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Human genetics, 1995-03, Vol.95 (3), p.365-366 |
| issn | 0340-6717 1432-1203 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Alanine - genetics beta chain Biological and medical sciences Classical genetics, quantitative genetics, hybrids deoxyribonuclease TaqI Deoxyribonucleases, Type II Site-Specific DNA Mutational Analysis Elliptocytosis, Hereditary - genetics erythrocytes Fundamental and applied biological sciences. Psychology Genes Genetics of eukaryotes. Biological and molecular evolution Glycine - genetics hemoglobinopathy hereditary diseases Human Humans linkage analysis man Point Mutation Polymorphism, Restriction Fragment Length restriction fragment length polymorphism spectrin Spectrin - chemistry Spectrin - genetics |
| title | A TaqI polymorphism in the human erythroid β spectrin gene |
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