Rapid Identification of Wilson's Disease Carriers by Denaturing High-Performance Liquid Chromatography
Background. Wilson's disease is an autosomal recessive disorder characterized by decreased biliary copper excretion and reduced copper incorporation into ceruloplasmin. The disease gene ATP7B maps to chromosome 13q14.3, contains 21 exons, and encodes a copper-transporting P-type ATPase. ATP7B m...
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| Veröffentlicht in: | Preventive medicine 2002-09, Vol.35 (3), p.278-284 |
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| creator | Weirich, Gregor Cabras, Antonello D Serra, Stefano Coni, Pier P Nurchi, Anna M Faa, Gavino Höfler, Heinz |
| description | Background. Wilson's disease is an autosomal recessive disorder characterized by decreased biliary copper excretion and reduced copper incorporation into ceruloplasmin. The disease gene
ATP7B maps to chromosome 13q14.3, contains 21 exons, and encodes a copper-transporting P-type ATPase.
ATP7B mutations are scattered over the entire gene, and scanning methods to detect mutation carriers are in demand. We have tested the usefulness of denaturing high-performance liquid chromatography for mutation detection in Wilson's disease.
Methods. Genomic DNA from five Sardinian Wilson's disease families (32 individuals, 8 patients) was subjected to polymerase chain reactions for
ATP7B exons 2–21 and the 5′ untranslated region. PCR products were analyzed by chromatography and by direct sequencing.
Results. Three disease-causing mutations and seven sequence variants were detected by chromatography. Five patients were homozygotes for −441/−427del, and three were compound heterozygotes for V1146M plus 1512-13insT (N505X) and for −441/−427del plus V1146M, respectively. Eighteen unaffected individuals were mutation carriers. Sequence variants comprised V290V, A406S, L456V, R832K, A1140V, the novel K952R, and T991T. The novel intronic IVS18+6c>t change escaped detection by chromatography.
Conclusions. Denaturing high-performance liquid chromatography is a dependable tool for
ATP7B screening that is superior to traditional haplotyping. This method allows for fast, sensitive, and specific mutation detection and identification of carriers in Wilson's disease families. |
| doi_str_mv | 10.1006/pmed.2002.1069 |
| format | Article |
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ATP7B maps to chromosome 13q14.3, contains 21 exons, and encodes a copper-transporting P-type ATPase.
ATP7B mutations are scattered over the entire gene, and scanning methods to detect mutation carriers are in demand. We have tested the usefulness of denaturing high-performance liquid chromatography for mutation detection in Wilson's disease.
Methods. Genomic DNA from five Sardinian Wilson's disease families (32 individuals, 8 patients) was subjected to polymerase chain reactions for
ATP7B exons 2–21 and the 5′ untranslated region. PCR products were analyzed by chromatography and by direct sequencing.
Results. Three disease-causing mutations and seven sequence variants were detected by chromatography. Five patients were homozygotes for −441/−427del, and three were compound heterozygotes for V1146M plus 1512-13insT (N505X) and for −441/−427del plus V1146M, respectively. Eighteen unaffected individuals were mutation carriers. Sequence variants comprised V290V, A406S, L456V, R832K, A1140V, the novel K952R, and T991T. The novel intronic IVS18+6c>t change escaped detection by chromatography.
Conclusions. Denaturing high-performance liquid chromatography is a dependable tool for
ATP7B screening that is superior to traditional haplotyping. This method allows for fast, sensitive, and specific mutation detection and identification of carriers in Wilson's disease families.</description><identifier>ISSN: 0091-7435</identifier><identifier>EISSN: 1096-0260</identifier><identifier>DOI: 10.1006/pmed.2002.1069</identifier><identifier>PMID: 12202071</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adenosine Triphosphatases - genetics ; Adenosine Triphosphatases - isolation & purification ; ATP7B ; Carrier State - diagnosis ; Cation Transport Proteins - genetics ; Cation Transport Proteins - isolation & purification ; Chromatography, High Pressure Liquid - methods ; Copper - metabolism ; Copper-transporting ATPases ; denaturing high-performance liquid chromatography ; Exons ; Female ; Hepatolenticular Degeneration - genetics ; Humans ; Italy ; Male ; mutation screening ; Polymerase Chain Reaction ; Sensitivity and Specificity ; Wilson's disease</subject><ispartof>Preventive medicine, 2002-09, Vol.35 (3), p.278-284</ispartof><rights>2002 American Health Foundation and Elsevier Science (USA)</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c340t-64b06c93ff7d28e538b2dab9c13d53407083ec676bf9693b73775870d18f2ed13</citedby><cites>FETCH-LOGICAL-c340t-64b06c93ff7d28e538b2dab9c13d53407083ec676bf9693b73775870d18f2ed13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1006/pmed.2002.1069$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12202071$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Weirich, Gregor</creatorcontrib><creatorcontrib>Cabras, Antonello D</creatorcontrib><creatorcontrib>Serra, Stefano</creatorcontrib><creatorcontrib>Coni, Pier P</creatorcontrib><creatorcontrib>Nurchi, Anna M</creatorcontrib><creatorcontrib>Faa, Gavino</creatorcontrib><creatorcontrib>Höfler, Heinz</creatorcontrib><title>Rapid Identification of Wilson's Disease Carriers by Denaturing High-Performance Liquid Chromatography</title><title>Preventive medicine</title><addtitle>Prev Med</addtitle><description>Background. Wilson's disease is an autosomal recessive disorder characterized by decreased biliary copper excretion and reduced copper incorporation into ceruloplasmin. The disease gene
ATP7B maps to chromosome 13q14.3, contains 21 exons, and encodes a copper-transporting P-type ATPase.
ATP7B mutations are scattered over the entire gene, and scanning methods to detect mutation carriers are in demand. We have tested the usefulness of denaturing high-performance liquid chromatography for mutation detection in Wilson's disease.
Methods. Genomic DNA from five Sardinian Wilson's disease families (32 individuals, 8 patients) was subjected to polymerase chain reactions for
ATP7B exons 2–21 and the 5′ untranslated region. PCR products were analyzed by chromatography and by direct sequencing.
Results. Three disease-causing mutations and seven sequence variants were detected by chromatography. Five patients were homozygotes for −441/−427del, and three were compound heterozygotes for V1146M plus 1512-13insT (N505X) and for −441/−427del plus V1146M, respectively. Eighteen unaffected individuals were mutation carriers. Sequence variants comprised V290V, A406S, L456V, R832K, A1140V, the novel K952R, and T991T. The novel intronic IVS18+6c>t change escaped detection by chromatography.
Conclusions. Denaturing high-performance liquid chromatography is a dependable tool for
ATP7B screening that is superior to traditional haplotyping. This method allows for fast, sensitive, and specific mutation detection and identification of carriers in Wilson's disease families.</description><subject>Adenosine Triphosphatases - genetics</subject><subject>Adenosine Triphosphatases - isolation & purification</subject><subject>ATP7B</subject><subject>Carrier State - diagnosis</subject><subject>Cation Transport Proteins - genetics</subject><subject>Cation Transport Proteins - isolation & purification</subject><subject>Chromatography, High Pressure Liquid - methods</subject><subject>Copper - metabolism</subject><subject>Copper-transporting ATPases</subject><subject>denaturing high-performance liquid chromatography</subject><subject>Exons</subject><subject>Female</subject><subject>Hepatolenticular Degeneration - genetics</subject><subject>Humans</subject><subject>Italy</subject><subject>Male</subject><subject>mutation screening</subject><subject>Polymerase Chain Reaction</subject><subject>Sensitivity and Specificity</subject><subject>Wilson's disease</subject><issn>0091-7435</issn><issn>1096-0260</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kEFv0zAUgC3ExMrgyhH5xE4pz3ZqJ0fUbWxSJRACcbQc-7k1auLMTib13-OoFTdO1pO_90nvI-QDgzUDkJ_HHt2aA_AyyvYVWTFoZQVcwmuyAmhZpWqxuSZvc_4DwJiE-g25ZpwDB8VWxP8wY3D0yeEwBR-smUIcaPT0dzjmONxmehcymox0a1IKmDLtTvQOBzPNKQx7-hj2h-o7Jh9TbwaLdBee52LcHlLszRT3yYyH0zty5c0x4_vLe0N-Pdz_3D5Wu29fn7ZfdpUVNUyVrDuQthXeK8cb3Iim4850rWXCbQqhoBFopZKdb2UrOiWU2jQKHGs8R8fEDfl09o4pPs-YJ92HbPF4NAPGOWvFoW4aKQq4PoM2xZwTej2m0Jt00gz0UlYvZfVSVi9ly8LHi3nulp9_-CVlAZozgOW-l1JKZxuwFHEhoZ20i-F_7r8jI4fr</recordid><startdate>20020901</startdate><enddate>20020901</enddate><creator>Weirich, Gregor</creator><creator>Cabras, Antonello D</creator><creator>Serra, Stefano</creator><creator>Coni, Pier P</creator><creator>Nurchi, Anna M</creator><creator>Faa, Gavino</creator><creator>Höfler, Heinz</creator><general>Elsevier Inc</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>7X8</scope></search><sort><creationdate>20020901</creationdate><title>Rapid Identification of Wilson's Disease Carriers by Denaturing High-Performance Liquid Chromatography</title><author>Weirich, Gregor ; Cabras, Antonello D ; Serra, Stefano ; Coni, Pier P ; Nurchi, Anna M ; Faa, Gavino ; Höfler, Heinz</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c340t-64b06c93ff7d28e538b2dab9c13d53407083ec676bf9693b73775870d18f2ed13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adenosine Triphosphatases - genetics</topic><topic>Adenosine Triphosphatases - isolation & purification</topic><topic>ATP7B</topic><topic>Carrier State - diagnosis</topic><topic>Cation Transport Proteins - genetics</topic><topic>Cation Transport Proteins - isolation & purification</topic><topic>Chromatography, High Pressure Liquid - methods</topic><topic>Copper - metabolism</topic><topic>Copper-transporting ATPases</topic><topic>denaturing high-performance liquid chromatography</topic><topic>Exons</topic><topic>Female</topic><topic>Hepatolenticular Degeneration - genetics</topic><topic>Humans</topic><topic>Italy</topic><topic>Male</topic><topic>mutation screening</topic><topic>Polymerase Chain Reaction</topic><topic>Sensitivity and Specificity</topic><topic>Wilson's disease</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Weirich, Gregor</creatorcontrib><creatorcontrib>Cabras, Antonello D</creatorcontrib><creatorcontrib>Serra, Stefano</creatorcontrib><creatorcontrib>Coni, Pier P</creatorcontrib><creatorcontrib>Nurchi, Anna M</creatorcontrib><creatorcontrib>Faa, Gavino</creatorcontrib><creatorcontrib>Höfler, Heinz</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><jtitle>Preventive medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Weirich, Gregor</au><au>Cabras, Antonello D</au><au>Serra, Stefano</au><au>Coni, Pier P</au><au>Nurchi, Anna M</au><au>Faa, Gavino</au><au>Höfler, Heinz</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Rapid Identification of Wilson's Disease Carriers by Denaturing High-Performance Liquid Chromatography</atitle><jtitle>Preventive medicine</jtitle><addtitle>Prev Med</addtitle><date>2002-09-01</date><risdate>2002</risdate><volume>35</volume><issue>3</issue><spage>278</spage><epage>284</epage><pages>278-284</pages><issn>0091-7435</issn><eissn>1096-0260</eissn><abstract>Background. Wilson's disease is an autosomal recessive disorder characterized by decreased biliary copper excretion and reduced copper incorporation into ceruloplasmin. The disease gene
ATP7B maps to chromosome 13q14.3, contains 21 exons, and encodes a copper-transporting P-type ATPase.
ATP7B mutations are scattered over the entire gene, and scanning methods to detect mutation carriers are in demand. We have tested the usefulness of denaturing high-performance liquid chromatography for mutation detection in Wilson's disease.
Methods. Genomic DNA from five Sardinian Wilson's disease families (32 individuals, 8 patients) was subjected to polymerase chain reactions for
ATP7B exons 2–21 and the 5′ untranslated region. PCR products were analyzed by chromatography and by direct sequencing.
Results. Three disease-causing mutations and seven sequence variants were detected by chromatography. Five patients were homozygotes for −441/−427del, and three were compound heterozygotes for V1146M plus 1512-13insT (N505X) and for −441/−427del plus V1146M, respectively. Eighteen unaffected individuals were mutation carriers. Sequence variants comprised V290V, A406S, L456V, R832K, A1140V, the novel K952R, and T991T. The novel intronic IVS18+6c>t change escaped detection by chromatography.
Conclusions. Denaturing high-performance liquid chromatography is a dependable tool for
ATP7B screening that is superior to traditional haplotyping. This method allows for fast, sensitive, and specific mutation detection and identification of carriers in Wilson's disease families.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>12202071</pmid><doi>10.1006/pmed.2002.1069</doi><tpages>7</tpages></addata></record> |
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| ispartof | Preventive medicine, 2002-09, Vol.35 (3), p.278-284 |
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| subjects | Adenosine Triphosphatases - genetics Adenosine Triphosphatases - isolation & purification ATP7B Carrier State - diagnosis Cation Transport Proteins - genetics Cation Transport Proteins - isolation & purification Chromatography, High Pressure Liquid - methods Copper - metabolism Copper-transporting ATPases denaturing high-performance liquid chromatography Exons Female Hepatolenticular Degeneration - genetics Humans Italy Male mutation screening Polymerase Chain Reaction Sensitivity and Specificity Wilson's disease |
| title | Rapid Identification of Wilson's Disease Carriers by Denaturing High-Performance Liquid Chromatography |
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