Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin
The diagnosis of deficiency of alpha-1 antitrypsin (A1AT) is based on isoelectric focusing of serum proteins and the extent of serum. However, the focusing is technically difficult and a greatly reduced concentration in abnormal A1AT tapeless does not differentiate an unstable variant of a variant c...
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| Veröffentlicht in: | Annales de biologie clinique (Paris) 2011-09, Vol.69 (5), p.571-576 |
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| creator | Joly, Philippe Francina, Alain Lacan, Philippe Heraut, Jessica Chapuis-Cellier, Colette |
| description | The diagnosis of deficiency of alpha-1 antitrypsin (A1AT) is based on isoelectric focusing of serum proteins and the extent of serum. However, the focusing is technically difficult and a greatly reduced concentration in abnormal A1AT tapeless does not differentiate an unstable variant of a variant called 'null' (that is to say without any phenotypic expression) to 'heterozygous' state. In this study, we compared the results of the assay, the phenotype and genotype of A1AT in 50 patients. Normal A1AT alleles (Pi*M1 to Pi*M4) or loss of the most common (Pi*S and Pi*Z) were clearly identified in phenotyping. However, genotyping was necessary to characterize: (i) certain alleles rarer A1AT (S-Munich, X-Christchurch); (ii) a null allele and; (iii) two new alleles A1AT not yet described in the literature. In conclusion, although the A1AT genotyping is generally not necessary, it is necessary to resolve complex cases and to obtain witnesses validated for isoelectric focusing. |
| doi_str_mv | 10.1684/abc.2011.0613 |
| format | Article |
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However, the focusing is technically difficult and a greatly reduced concentration in abnormal A1AT tapeless does not differentiate an unstable variant of a variant called 'null' (that is to say without any phenotypic expression) to 'heterozygous' state. In this study, we compared the results of the assay, the phenotype and genotype of A1AT in 50 patients. Normal A1AT alleles (Pi*M1 to Pi*M4) or loss of the most common (Pi*S and Pi*Z) were clearly identified in phenotyping. However, genotyping was necessary to characterize: (i) certain alleles rarer A1AT (S-Munich, X-Christchurch); (ii) a null allele and; (iii) two new alleles A1AT not yet described in the literature. In conclusion, although the A1AT genotyping is generally not necessary, it is necessary to resolve complex cases and to obtain witnesses validated for isoelectric focusing.</description><identifier>ISSN: 0003-3898</identifier><identifier>DOI: 10.1684/abc.2011.0613</identifier><identifier>PMID: 22008137</identifier><language>fre</language><publisher>France</publisher><subject>Alleles ; alpha 1-Antitrypsin - analysis ; alpha 1-Antitrypsin - blood ; alpha 1-Antitrypsin - genetics ; alpha 1-Antitrypsin Deficiency - blood ; alpha 1-Antitrypsin Deficiency - diagnosis ; alpha 1-Antitrypsin Deficiency - genetics ; Blood Chemical Analysis - methods ; Blood Chemical Analysis - standards ; Clinical Laboratory Techniques - methods ; Clinical Laboratory Techniques - standards ; Electrophoresis, Capillary ; Electrophoresis, Polyacrylamide Gel ; Genotype ; Humans ; Isoelectric Focusing - methods ; Molecular Diagnostic Techniques - utilization ; Phenotype ; Polymorphism, Genetic - physiology ; Reproducibility of Results</subject><ispartof>Annales de biologie clinique (Paris), 2011-09, Vol.69 (5), p.571-576</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c184t-3b4fb5a41021051715e2f209307ecfb5cf09229c87dddc2b95e5dc97dcb649ea3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22008137$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Joly, Philippe</creatorcontrib><creatorcontrib>Francina, Alain</creatorcontrib><creatorcontrib>Lacan, Philippe</creatorcontrib><creatorcontrib>Heraut, Jessica</creatorcontrib><creatorcontrib>Chapuis-Cellier, Colette</creatorcontrib><title>Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin</title><title>Annales de biologie clinique (Paris)</title><addtitle>Ann Biol Clin (Paris)</addtitle><description>The diagnosis of deficiency of alpha-1 antitrypsin (A1AT) is based on isoelectric focusing of serum proteins and the extent of serum. However, the focusing is technically difficult and a greatly reduced concentration in abnormal A1AT tapeless does not differentiate an unstable variant of a variant called 'null' (that is to say without any phenotypic expression) to 'heterozygous' state. In this study, we compared the results of the assay, the phenotype and genotype of A1AT in 50 patients. Normal A1AT alleles (Pi*M1 to Pi*M4) or loss of the most common (Pi*S and Pi*Z) were clearly identified in phenotyping. However, genotyping was necessary to characterize: (i) certain alleles rarer A1AT (S-Munich, X-Christchurch); (ii) a null allele and; (iii) two new alleles A1AT not yet described in the literature. In conclusion, although the A1AT genotyping is generally not necessary, it is necessary to resolve complex cases and to obtain witnesses validated for isoelectric focusing.</description><subject>Alleles</subject><subject>alpha 1-Antitrypsin - analysis</subject><subject>alpha 1-Antitrypsin - blood</subject><subject>alpha 1-Antitrypsin - genetics</subject><subject>alpha 1-Antitrypsin Deficiency - blood</subject><subject>alpha 1-Antitrypsin Deficiency - diagnosis</subject><subject>alpha 1-Antitrypsin Deficiency - genetics</subject><subject>Blood Chemical Analysis - methods</subject><subject>Blood Chemical Analysis - standards</subject><subject>Clinical Laboratory Techniques - methods</subject><subject>Clinical Laboratory Techniques - standards</subject><subject>Electrophoresis, Capillary</subject><subject>Electrophoresis, Polyacrylamide Gel</subject><subject>Genotype</subject><subject>Humans</subject><subject>Isoelectric Focusing - methods</subject><subject>Molecular Diagnostic Techniques - utilization</subject><subject>Phenotype</subject><subject>Polymorphism, Genetic - physiology</subject><subject>Reproducibility of Results</subject><issn>0003-3898</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kD9PwzAUxD2AaCmMrMgbU8p7dtLEI6r4J1WCASS2yLFfWqPECbEz5GPxRfhMFCjTSfe7u-EYu0BY4qpIr3VllgIQl7BCecTmACATWahixk5DeAdAUUh5wmZCABQo8zl7e260Id7VfEu-i1Pv_JY7z7W1LrrO89jxuCPe7_4wce3tr6ND0NNPMdAwtvzrM8E9iy4OUx-cP2PHtW4CnR90wV7vbl_WD8nm6f5xfbNJDBZpTGSV1lWmUwSBkGGOGYlagJKQk9kTU4MSQpkit9YaUamMMmtUbk21ShVpuWBXf7v90H2MFGLZumCoabSnbgylAgQQ-f6JBbs8JMeqJVv2g2v1MJX_Z8hvUstfug</recordid><startdate>201109</startdate><enddate>201109</enddate><creator>Joly, Philippe</creator><creator>Francina, Alain</creator><creator>Lacan, Philippe</creator><creator>Heraut, Jessica</creator><creator>Chapuis-Cellier, Colette</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201109</creationdate><title>Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin</title><author>Joly, Philippe ; Francina, Alain ; Lacan, Philippe ; Heraut, Jessica ; Chapuis-Cellier, Colette</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c184t-3b4fb5a41021051715e2f209307ecfb5cf09229c87dddc2b95e5dc97dcb649ea3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>fre</language><creationdate>2011</creationdate><topic>Alleles</topic><topic>alpha 1-Antitrypsin - analysis</topic><topic>alpha 1-Antitrypsin - blood</topic><topic>alpha 1-Antitrypsin - genetics</topic><topic>alpha 1-Antitrypsin Deficiency - blood</topic><topic>alpha 1-Antitrypsin Deficiency - diagnosis</topic><topic>alpha 1-Antitrypsin Deficiency - genetics</topic><topic>Blood Chemical Analysis - methods</topic><topic>Blood Chemical Analysis - standards</topic><topic>Clinical Laboratory Techniques - methods</topic><topic>Clinical Laboratory Techniques - standards</topic><topic>Electrophoresis, Capillary</topic><topic>Electrophoresis, Polyacrylamide Gel</topic><topic>Genotype</topic><topic>Humans</topic><topic>Isoelectric Focusing - methods</topic><topic>Molecular Diagnostic Techniques - utilization</topic><topic>Phenotype</topic><topic>Polymorphism, Genetic - physiology</topic><topic>Reproducibility of Results</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Joly, Philippe</creatorcontrib><creatorcontrib>Francina, Alain</creatorcontrib><creatorcontrib>Lacan, Philippe</creatorcontrib><creatorcontrib>Heraut, Jessica</creatorcontrib><creatorcontrib>Chapuis-Cellier, Colette</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Annales de biologie clinique (Paris)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Joly, Philippe</au><au>Francina, Alain</au><au>Lacan, Philippe</au><au>Heraut, Jessica</au><au>Chapuis-Cellier, Colette</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin</atitle><jtitle>Annales de biologie clinique (Paris)</jtitle><addtitle>Ann Biol Clin (Paris)</addtitle><date>2011-09</date><risdate>2011</risdate><volume>69</volume><issue>5</issue><spage>571</spage><epage>576</epage><pages>571-576</pages><issn>0003-3898</issn><abstract>The diagnosis of deficiency of alpha-1 antitrypsin (A1AT) is based on isoelectric focusing of serum proteins and the extent of serum. However, the focusing is technically difficult and a greatly reduced concentration in abnormal A1AT tapeless does not differentiate an unstable variant of a variant called 'null' (that is to say without any phenotypic expression) to 'heterozygous' state. In this study, we compared the results of the assay, the phenotype and genotype of A1AT in 50 patients. Normal A1AT alleles (Pi*M1 to Pi*M4) or loss of the most common (Pi*S and Pi*Z) were clearly identified in phenotyping. However, genotyping was necessary to characterize: (i) certain alleles rarer A1AT (S-Munich, X-Christchurch); (ii) a null allele and; (iii) two new alleles A1AT not yet described in the literature. In conclusion, although the A1AT genotyping is generally not necessary, it is necessary to resolve complex cases and to obtain witnesses validated for isoelectric focusing.</abstract><cop>France</cop><pmid>22008137</pmid><doi>10.1684/abc.2011.0613</doi><tpages>6</tpages></addata></record> |
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| subjects | Alleles alpha 1-Antitrypsin - analysis alpha 1-Antitrypsin - blood alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency - blood alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - genetics Blood Chemical Analysis - methods Blood Chemical Analysis - standards Clinical Laboratory Techniques - methods Clinical Laboratory Techniques - standards Electrophoresis, Capillary Electrophoresis, Polyacrylamide Gel Genotype Humans Isoelectric Focusing - methods Molecular Diagnostic Techniques - utilization Phenotype Polymorphism, Genetic - physiology Reproducibility of Results |
| title | Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin |
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