Molecular Characterization of Hb Val de Marne [α133(H16)Ser→Arg; AGC→AGA; (α2)] in a Chinese Family
There have been two previous reports on Hb Val de Marne (Hb Footscray) [α133(H16)Ser→Arg] in the literature, but the molecular characterization has hitherto not been described. Based on the Ser→Arg transition, the presumed mutation was cited as AGC→CGC of the α2- or α1-globin gene. We have found thi...
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| Veröffentlicht in: | Hemoglobin 2004-01, Vol.28 (3), p.213-216 |
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| creator | Ma, Edmond Shiu-Kwan Chan, Amy Yuk-Yin Lee, Anselm Chi-Wai |
| description | There have been two previous reports on Hb Val de Marne (Hb Footscray) [α133(H16)Ser→Arg] in the literature, but the molecular characterization has hitherto not been described. Based on the Ser→Arg transition, the presumed mutation was cited as AGC→CGC of the α2- or α1-globin gene. We have found this variant in a 15-year-old Chinese girl and her father, and automated DNA sequencing revealed an AGC→AGA mutation at codon 133 of the α2-globin gene. Since an increasing number of α-globin gene variants have been reported with the same protein alteration but with different mutations on the α1- or α2-globin genes, the mutation identified in the present family does not preclude the presence of other α-globin gene mutations leading to this hemoglobin (Hb) variant. |
| doi_str_mv | 10.1081/HEM-120040306 |
| format | Article |
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Based on the Ser→Arg transition, the presumed mutation was cited as AGC→CGC of the α2- or α1-globin gene. We have found this variant in a 15-year-old Chinese girl and her father, and automated DNA sequencing revealed an AGC→AGA mutation at codon 133 of the α2-globin gene. Since an increasing number of α-globin gene variants have been reported with the same protein alteration but with different mutations on the α1- or α2-globin genes, the mutation identified in the present family does not preclude the presence of other α-globin gene mutations leading to this hemoglobin (Hb) variant.</description><identifier>ISSN: 0363-0269</identifier><identifier>EISSN: 1532-432X</identifier><identifier>DOI: 10.1081/HEM-120040306</identifier><identifier>PMID: 15481888</identifier><language>eng</language><publisher>England: Informa UK Ltd</publisher><subject>Adolescent ; Adult ; Amino Acid Substitution - genetics ; Arginine - genetics ; China ; Chinese ; Codon - genetics ; Family ; Female ; Hb Footscray ; Hb Val de Marne ; Hemoglobins, Abnormal - genetics ; Humans ; Male ; Mutation detection ; Point Mutation - genetics ; Serine - genetics</subject><ispartof>Hemoglobin, 2004-01, Vol.28 (3), p.213-216</ispartof><rights>2004 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c386t-7e4d17033c1e5d2c093445e732cd9d490be9a5fb4a82c9168febe3f9ff849aee3</citedby><cites>FETCH-LOGICAL-c386t-7e4d17033c1e5d2c093445e732cd9d490be9a5fb4a82c9168febe3f9ff849aee3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.1081/HEM-120040306$$EPDF$$P50$$Ginformahealthcare$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.1081/HEM-120040306$$EHTML$$P50$$Ginformahealthcare$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,59623,59729,60412,60518,61197,61232,61378,61413</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15481888$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ma, Edmond Shiu-Kwan</creatorcontrib><creatorcontrib>Chan, Amy Yuk-Yin</creatorcontrib><creatorcontrib>Lee, Anselm Chi-Wai</creatorcontrib><title>Molecular Characterization of Hb Val de Marne [α133(H16)Ser→Arg; AGC→AGA; (α2)] in a Chinese Family</title><title>Hemoglobin</title><addtitle>Hemoglobin</addtitle><description>There have been two previous reports on Hb Val de Marne (Hb Footscray) [α133(H16)Ser→Arg] in the literature, but the molecular characterization has hitherto not been described. Based on the Ser→Arg transition, the presumed mutation was cited as AGC→CGC of the α2- or α1-globin gene. We have found this variant in a 15-year-old Chinese girl and her father, and automated DNA sequencing revealed an AGC→AGA mutation at codon 133 of the α2-globin gene. Since an increasing number of α-globin gene variants have been reported with the same protein alteration but with different mutations on the α1- or α2-globin genes, the mutation identified in the present family does not preclude the presence of other α-globin gene mutations leading to this hemoglobin (Hb) variant.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amino Acid Substitution - genetics</subject><subject>Arginine - genetics</subject><subject>China</subject><subject>Chinese</subject><subject>Codon - genetics</subject><subject>Family</subject><subject>Female</subject><subject>Hb Footscray</subject><subject>Hb Val de Marne</subject><subject>Hemoglobins, Abnormal - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Mutation detection</subject><subject>Point Mutation - genetics</subject><subject>Serine - genetics</subject><issn>0363-0269</issn><issn>1532-432X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1uEzEUgC0EoiGwZIu8Qu1iwB57PLa6iqI2QWrEgh8hIWR5PM_ElWdc7BmhcIAeoDfpRXoITsJUiUAsunpv8b1PTx9CLyl5Q4mkb9dnm4KWhHDCiHiEZrRiZcFZ-eUxmhEmWEFKoY7Qs5wvCaGqJvwpOqIVl1RKOUN-EwPYMZiEl1uTjB0g-V9m8LHH0eF1gz-bgFvAG5N6wF_vbiljx2sqTj5A-n19s0jfT_FitbxfV4tTfHx3W558w77HZhL6HjLgc9P5sHuOnjgTMrw4zDn6dH72cbkuLt6v3i0XF4VlUgxFDbylNWHMUqja0hLFOK-gZqVtVcsVaUCZyjXcyNIqKqSDBphTzkmuDACbo9d771WKP0bIg-58thCC6SGOWQuhRFVO2jkq9qBNMecETl8l35m005To-7Z6aqv_tp34Vwfx2HTQ_qMPMSdA7gHfu5g68zOm0OrB7EJMLpne-qzZQ-76v9MtmDBsrUmgL-OY-inYA1_9ARSemOg</recordid><startdate>20040101</startdate><enddate>20040101</enddate><creator>Ma, Edmond Shiu-Kwan</creator><creator>Chan, Amy Yuk-Yin</creator><creator>Lee, Anselm Chi-Wai</creator><general>Informa UK Ltd</general><general>Taylor & Francis</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>20040101</creationdate><title>Molecular Characterization of Hb Val de Marne [α133(H16)Ser→Arg; AGC→AGA; (α2)] in a Chinese Family</title><author>Ma, Edmond Shiu-Kwan ; Chan, Amy Yuk-Yin ; Lee, Anselm Chi-Wai</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c386t-7e4d17033c1e5d2c093445e732cd9d490be9a5fb4a82c9168febe3f9ff849aee3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amino Acid Substitution - genetics</topic><topic>Arginine - genetics</topic><topic>China</topic><topic>Chinese</topic><topic>Codon - genetics</topic><topic>Family</topic><topic>Female</topic><topic>Hb Footscray</topic><topic>Hb Val de Marne</topic><topic>Hemoglobins, Abnormal - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Mutation detection</topic><topic>Point Mutation - genetics</topic><topic>Serine - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ma, Edmond Shiu-Kwan</creatorcontrib><creatorcontrib>Chan, Amy Yuk-Yin</creatorcontrib><creatorcontrib>Lee, Anselm Chi-Wai</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>Hemoglobin</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ma, Edmond Shiu-Kwan</au><au>Chan, Amy Yuk-Yin</au><au>Lee, Anselm Chi-Wai</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular Characterization of Hb Val de Marne [α133(H16)Ser→Arg; AGC→AGA; (α2)] in a Chinese Family</atitle><jtitle>Hemoglobin</jtitle><addtitle>Hemoglobin</addtitle><date>2004-01-01</date><risdate>2004</risdate><volume>28</volume><issue>3</issue><spage>213</spage><epage>216</epage><pages>213-216</pages><issn>0363-0269</issn><eissn>1532-432X</eissn><abstract>There have been two previous reports on Hb Val de Marne (Hb Footscray) [α133(H16)Ser→Arg] in the literature, but the molecular characterization has hitherto not been described. Based on the Ser→Arg transition, the presumed mutation was cited as AGC→CGC of the α2- or α1-globin gene. We have found this variant in a 15-year-old Chinese girl and her father, and automated DNA sequencing revealed an AGC→AGA mutation at codon 133 of the α2-globin gene. Since an increasing number of α-globin gene variants have been reported with the same protein alteration but with different mutations on the α1- or α2-globin genes, the mutation identified in the present family does not preclude the presence of other α-globin gene mutations leading to this hemoglobin (Hb) variant.</abstract><cop>England</cop><pub>Informa UK Ltd</pub><pmid>15481888</pmid><doi>10.1081/HEM-120040306</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Hemoglobin, 2004-01, Vol.28 (3), p.213-216 |
| issn | 0363-0269 1532-432X |
| language | eng |
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| source | MEDLINE; Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Adolescent Adult Amino Acid Substitution - genetics Arginine - genetics China Chinese Codon - genetics Family Female Hb Footscray Hb Val de Marne Hemoglobins, Abnormal - genetics Humans Male Mutation detection Point Mutation - genetics Serine - genetics |
| title | Molecular Characterization of Hb Val de Marne [α133(H16)Ser→Arg; AGC→AGA; (α2)] in a Chinese Family |
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