Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia
Summary This study reports the molecular characterization of ovalocytosis in Lombok Island, Indonesia. The analysis of genomic DNA by polymerase chain reaction shows that all 21 ovalocytotic individuals have two amplified products of different size from a region encompassing exon 11 of the band 3 ge...
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| Veröffentlicht in: | Japanese Journal of Human Genetics 1997-03, Vol.42 (1), p.233-236 |
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| container_title | Japanese Journal of Human Genetics |
| container_volume | 42 |
| creator | Alimsardjono, Haryanto Mukono, Indri Safitri Dachlan, Yoes Prijatna Matsuo, Masafumi |
| description | Summary
This study reports the molecular characterization of ovalocytosis in Lombok Island, Indonesia. The analysis of genomic DNA by polymerase chain reaction shows that all 21 ovalocytotic individuals have two amplified products of different size from a region encompassing exon 11 of the band 3 gene. The sequence of the larger product matched perfectly with that of normal individuals. In the sequence of the smaller product, 27 nucleotides within exon 11 were deleted. The heterozygous presence of the deletion identified in other parts of Southeast Asia was confirmed in patients with ovalocytosis in an isolated island of eastern Indonesia. |
| doi_str_mv | 10.1007/BF02766927 |
| format | Article |
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This study reports the molecular characterization of ovalocytosis in Lombok Island, Indonesia. The analysis of genomic DNA by polymerase chain reaction shows that all 21 ovalocytotic individuals have two amplified products of different size from a region encompassing exon 11 of the band 3 gene. The sequence of the larger product matched perfectly with that of normal individuals. In the sequence of the smaller product, 27 nucleotides within exon 11 were deleted. The heterozygous presence of the deletion identified in other parts of Southeast Asia was confirmed in patients with ovalocytosis in an isolated island of eastern Indonesia.</description><identifier>ISSN: 0021-5074</identifier><identifier>ISSN: 0916-8478</identifier><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/BF02766927</identifier><identifier>PMID: 9184004</identifier><language>eng</language><publisher>Tokyo: Springer-Verlag</publisher><subject>Anion Exchange Protein 1, Erythrocyte - genetics ; Anion Exchange Protein 1, Erythrocyte - physiology ; Base Sequence ; Biomedical and Life Sciences ; Biomedicine ; Elliptocytosis ; Elliptocytosis, Hereditary - blood ; Elliptocytosis, Hereditary - genetics ; Elliptocytosis, Hereditary - physiopathology ; Exons - genetics ; Exons - physiology ; Gene deletion ; Gene Expression ; Gene Function ; Gene Therapy ; Genomic analysis ; Human Genetics ; Humans ; Indonesia ; Molecular Medicine ; Molecular Sequence Data ; Nucleotide sequence ; Nucleotides - genetics ; Nucleotides - physiology ; Sequence Deletion - genetics ; Short Communication</subject><ispartof>Japanese Journal of Human Genetics, 1997-03, Vol.42 (1), p.233-236</ispartof><rights>Business Center for Academic Societies 1997</rights><rights>Business Center for Academic Societies 1997.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c434t-97d95f6429208e0bb3bdd53b4b2f719eaead9c5b5ad854f81098901dadec6a103</citedby><cites>FETCH-LOGICAL-c434t-97d95f6429208e0bb3bdd53b4b2f719eaead9c5b5ad854f81098901dadec6a103</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/BF02766927$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/BF02766927$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9184004$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Alimsardjono, Haryanto</creatorcontrib><creatorcontrib>Mukono, Indri Safitri</creatorcontrib><creatorcontrib>Dachlan, Yoes Prijatna</creatorcontrib><creatorcontrib>Matsuo, Masafumi</creatorcontrib><title>Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia</title><title>Japanese Journal of Human Genetics</title><addtitle>Jap J Human Genet</addtitle><addtitle>Jpn J Hum Genet</addtitle><description>Summary
This study reports the molecular characterization of ovalocytosis in Lombok Island, Indonesia. The analysis of genomic DNA by polymerase chain reaction shows that all 21 ovalocytotic individuals have two amplified products of different size from a region encompassing exon 11 of the band 3 gene. The sequence of the larger product matched perfectly with that of normal individuals. In the sequence of the smaller product, 27 nucleotides within exon 11 were deleted. The heterozygous presence of the deletion identified in other parts of Southeast Asia was confirmed in patients with ovalocytosis in an isolated island of eastern Indonesia.</description><subject>Anion Exchange Protein 1, Erythrocyte - genetics</subject><subject>Anion Exchange Protein 1, Erythrocyte - physiology</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Elliptocytosis</subject><subject>Elliptocytosis, Hereditary - blood</subject><subject>Elliptocytosis, Hereditary - genetics</subject><subject>Elliptocytosis, Hereditary - physiopathology</subject><subject>Exons - genetics</subject><subject>Exons - physiology</subject><subject>Gene deletion</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genomic analysis</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Indonesia</subject><subject>Molecular Medicine</subject><subject>Molecular Sequence Data</subject><subject>Nucleotide sequence</subject><subject>Nucleotides - genetics</subject><subject>Nucleotides - physiology</subject><subject>Sequence Deletion - genetics</subject><subject>Short Communication</subject><issn>0021-5074</issn><issn>0916-8478</issn><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpt0c9rFDEUB_AgSl2rF-9CQPCgjr78mkyOWq0uLHhR8DYkkzdt6mzSTjKte_B_N3UXC-IphO8nLw--hDxl8IYB6LfvT4HrtjVc3yMrJoVquODf75MVAGeNAi0fkkc5XwCA4JofkSPDOgkgV-TXB5ywhBRpGmm5wVh2NOM1RhqXYcJUgsdMb0I5D5Hiz-oY-0PPkTobPRX0DCPSymIJY0BPK0zXdkrDrqQc8u19k7Yu_aDrPNUnr-k6-hQxB_uYPBjtlPHJ4Twm304_fj353Gy-fFqfvNs0gxSyNEZ7o8ZWcsOhQ3BOOO-VcNLxUTODFq03g3LK-k7JsWNgOgPMW49DaxmIY_JiP_dyTlcL5tJvQx5wqutgWnKvDWglOl3h83_gRVrmWHfrue5aIRRjbVUv92qYU84zjv3lHLZ23vUM-ttG-rtGKn52GLm4Lfq_9FBBzV_t81yTeIbz3Zf_mfYbztuTkw</recordid><startdate>19970301</startdate><enddate>19970301</enddate><creator>Alimsardjono, Haryanto</creator><creator>Mukono, Indri Safitri</creator><creator>Dachlan, Yoes Prijatna</creator><creator>Matsuo, Masafumi</creator><general>Springer-Verlag</general><general>Nature Publishing Group</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>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19970301</creationdate><title>Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia</title><author>Alimsardjono, Haryanto ; Mukono, Indri Safitri ; Dachlan, Yoes Prijatna ; Matsuo, Masafumi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c434t-97d95f6429208e0bb3bdd53b4b2f719eaead9c5b5ad854f81098901dadec6a103</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Anion Exchange Protein 1, Erythrocyte - genetics</topic><topic>Anion Exchange Protein 1, Erythrocyte - physiology</topic><topic>Base Sequence</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Elliptocytosis</topic><topic>Elliptocytosis, Hereditary - blood</topic><topic>Elliptocytosis, Hereditary - genetics</topic><topic>Elliptocytosis, Hereditary - physiopathology</topic><topic>Exons - genetics</topic><topic>Exons - physiology</topic><topic>Gene deletion</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genomic analysis</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Indonesia</topic><topic>Molecular Medicine</topic><topic>Molecular Sequence Data</topic><topic>Nucleotide sequence</topic><topic>Nucleotides - genetics</topic><topic>Nucleotides - physiology</topic><topic>Sequence Deletion - genetics</topic><topic>Short Communication</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Alimsardjono, Haryanto</creatorcontrib><creatorcontrib>Mukono, Indri Safitri</creatorcontrib><creatorcontrib>Dachlan, Yoes Prijatna</creatorcontrib><creatorcontrib>Matsuo, Masafumi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Japanese Journal of Human Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Alimsardjono, Haryanto</au><au>Mukono, Indri Safitri</au><au>Dachlan, Yoes Prijatna</au><au>Matsuo, Masafumi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia</atitle><jtitle>Japanese Journal of Human Genetics</jtitle><stitle>Jap J Human Genet</stitle><addtitle>Jpn J Hum Genet</addtitle><date>1997-03-01</date><risdate>1997</risdate><volume>42</volume><issue>1</issue><spage>233</spage><epage>236</epage><pages>233-236</pages><issn>0021-5074</issn><issn>0916-8478</issn><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Summary
This study reports the molecular characterization of ovalocytosis in Lombok Island, Indonesia. The analysis of genomic DNA by polymerase chain reaction shows that all 21 ovalocytotic individuals have two amplified products of different size from a region encompassing exon 11 of the band 3 gene. The sequence of the larger product matched perfectly with that of normal individuals. In the sequence of the smaller product, 27 nucleotides within exon 11 were deleted. The heterozygous presence of the deletion identified in other parts of Southeast Asia was confirmed in patients with ovalocytosis in an isolated island of eastern Indonesia.</abstract><cop>Tokyo</cop><pub>Springer-Verlag</pub><pmid>9184004</pmid><doi>10.1007/BF02766927</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0021-5074 |
| ispartof | Japanese Journal of Human Genetics, 1997-03, Vol.42 (1), p.233-236 |
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| language | eng |
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| subjects | Anion Exchange Protein 1, Erythrocyte - genetics Anion Exchange Protein 1, Erythrocyte - physiology Base Sequence Biomedical and Life Sciences Biomedicine Elliptocytosis Elliptocytosis, Hereditary - blood Elliptocytosis, Hereditary - genetics Elliptocytosis, Hereditary - physiopathology Exons - genetics Exons - physiology Gene deletion Gene Expression Gene Function Gene Therapy Genomic analysis Human Genetics Humans Indonesia Molecular Medicine Molecular Sequence Data Nucleotide sequence Nucleotides - genetics Nucleotides - physiology Sequence Deletion - genetics Short Communication |
| title | Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia |
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