Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China
Summary Introduction Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method. Methods A total of 2...
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| Veröffentlicht in: | International journal of laboratory hematology 2015-06, Vol.37 (3), p.410-419 |
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| container_title | International journal of laboratory hematology |
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| creator | Yang, H. Wang, Q. Zheng, L. Zhan, X.-F. Lin, M. Lin, F. Tong, X. Luo, Z.-Y. Huang, Y. Yang, L.-Y. |
| description | Summary
Introduction
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method.
Methods
A total of 2500 neonates were routinely screened for G6PD deficiency using a modified fluorescent spot test (FST). PCR‐high‐resolution melting (HRM) analysis was then used for the molecular assay.
Results
The overall incidence of G6PD deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6PD deficient based on FST (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A>G, c.392G>T, c.493A>G, c.871G>A, c.1360C>T, c.1376G>T, and c.1388G>A] were identified by HRM analysis.
Conclusion
Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6PD deficiency. |
| doi_str_mv | 10.1111/ijlh.12303 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1676604266</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1676604266</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4373-f4f8abb2eb1a8bb6b2210eba9bd267f7a0a521fad2d8610c12d29689cd9adca63</originalsourceid><addsrcrecordid>eNp9kcFu1DAQhiMEoqVw4QGQjwiRYjuJkxzRQrcLK-BQBOJije1J45LYi52o3T5FHxkv2-4RXzyWv_k09p9lLxk9ZWm9s1dDf8p4QYtH2TGrK5ZXVfHz8aHm7Ch7FuMVpVVd0vZpdsSrsqQFZ8fZ3cppa9BpJOAMGf2Aeh4gEN1DAD1hsLcwWe-I78hymLWPmIv8W-_jpocJyQfstyb4S3QQkRjsrLZJtyUwendJHHqXsEg6H9LhWvngSNQB0dl0bR1Z9OBvez-_TZV18Dx70sEQ8cX9fpJ9P_t4sTjP11-Xq8X7da7Loi7yruwaUIqjYtAoJRTnjKKCVhku6q4GCundHRhuGsGoZtzwVjStNi0YDaI4yV7vvZvg_8wYJznaqHEYII08R8lELQQtudihb_aoDj7GgJ3cBDtC2EpG5S4BuUtA_ksgwa_uvbMa0RzQhy9PANsD13bA7X9UcvVpff4gzfc9Nk54c-iB8FuKuqgr-ePLUrasuSh-fV7Ls-Iv94Cjlw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1676604266</pqid></control><display><type>article</type><title>Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><creator>Yang, H. ; Wang, Q. ; Zheng, L. ; Zhan, X.-F. ; Lin, M. ; Lin, F. ; Tong, X. ; Luo, Z.-Y. ; Huang, Y. ; Yang, L.-Y.</creator><creatorcontrib>Yang, H. ; Wang, Q. ; Zheng, L. ; Zhan, X.-F. ; Lin, M. ; Lin, F. ; Tong, X. ; Luo, Z.-Y. ; Huang, Y. ; Yang, L.-Y.</creatorcontrib><description>Summary
Introduction
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method.
Methods
A total of 2500 neonates were routinely screened for G6PD deficiency using a modified fluorescent spot test (FST). PCR‐high‐resolution melting (HRM) analysis was then used for the molecular assay.
Results
The overall incidence of G6PD deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6PD deficient based on FST (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A>G, c.392G>T, c.493A>G, c.871G>A, c.1360C>T, c.1376G>T, and c.1388G>A] were identified by HRM analysis.
Conclusion
Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6PD deficiency.</description><identifier>ISSN: 1751-5521</identifier><identifier>EISSN: 1751-553X</identifier><identifier>DOI: 10.1111/ijlh.12303</identifier><identifier>PMID: 25440321</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Alleles ; China - epidemiology ; DNA Mutational Analysis ; Exons ; Female ; G6PD deficiency ; gene mutation ; Genetic Testing ; Genotype ; Glucosephosphate Dehydrogenase - genetics ; Glucosephosphate Dehydrogenase Deficiency - diagnosis ; Glucosephosphate Dehydrogenase Deficiency - epidemiology ; Glucosephosphate Dehydrogenase Deficiency - genetics ; high resolution melting analysis ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Mutation ; Neonatal Screening ; newborn screening ; Polymerase Chain Reaction - methods</subject><ispartof>International journal of laboratory hematology, 2015-06, Vol.37 (3), p.410-419</ispartof><rights>2014 John Wiley & Sons Ltd</rights><rights>2014 John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4373-f4f8abb2eb1a8bb6b2210eba9bd267f7a0a521fad2d8610c12d29689cd9adca63</citedby><cites>FETCH-LOGICAL-c4373-f4f8abb2eb1a8bb6b2210eba9bd267f7a0a521fad2d8610c12d29689cd9adca63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fijlh.12303$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fijlh.12303$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,778,782,1414,27907,27908,45557,45558</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25440321$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yang, H.</creatorcontrib><creatorcontrib>Wang, Q.</creatorcontrib><creatorcontrib>Zheng, L.</creatorcontrib><creatorcontrib>Zhan, X.-F.</creatorcontrib><creatorcontrib>Lin, M.</creatorcontrib><creatorcontrib>Lin, F.</creatorcontrib><creatorcontrib>Tong, X.</creatorcontrib><creatorcontrib>Luo, Z.-Y.</creatorcontrib><creatorcontrib>Huang, Y.</creatorcontrib><creatorcontrib>Yang, L.-Y.</creatorcontrib><title>Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China</title><title>International journal of laboratory hematology</title><addtitle>Int. Jnl. Lab. Hem</addtitle><description>Summary
Introduction
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method.
Methods
A total of 2500 neonates were routinely screened for G6PD deficiency using a modified fluorescent spot test (FST). PCR‐high‐resolution melting (HRM) analysis was then used for the molecular assay.
Results
The overall incidence of G6PD deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6PD deficient based on FST (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A>G, c.392G>T, c.493A>G, c.871G>A, c.1360C>T, c.1376G>T, and c.1388G>A] were identified by HRM analysis.
Conclusion
Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6PD deficiency.</description><subject>Alleles</subject><subject>China - epidemiology</subject><subject>DNA Mutational Analysis</subject><subject>Exons</subject><subject>Female</subject><subject>G6PD deficiency</subject><subject>gene mutation</subject><subject>Genetic Testing</subject><subject>Genotype</subject><subject>Glucosephosphate Dehydrogenase - genetics</subject><subject>Glucosephosphate Dehydrogenase Deficiency - diagnosis</subject><subject>Glucosephosphate Dehydrogenase Deficiency - epidemiology</subject><subject>Glucosephosphate Dehydrogenase Deficiency - genetics</subject><subject>high resolution melting analysis</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Mutation</subject><subject>Neonatal Screening</subject><subject>newborn screening</subject><subject>Polymerase Chain Reaction - methods</subject><issn>1751-5521</issn><issn>1751-553X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kcFu1DAQhiMEoqVw4QGQjwiRYjuJkxzRQrcLK-BQBOJije1J45LYi52o3T5FHxkv2-4RXzyWv_k09p9lLxk9ZWm9s1dDf8p4QYtH2TGrK5ZXVfHz8aHm7Ch7FuMVpVVd0vZpdsSrsqQFZ8fZ3cppa9BpJOAMGf2Aeh4gEN1DAD1hsLcwWe-I78hymLWPmIv8W-_jpocJyQfstyb4S3QQkRjsrLZJtyUwendJHHqXsEg6H9LhWvngSNQB0dl0bR1Z9OBvez-_TZV18Dx70sEQ8cX9fpJ9P_t4sTjP11-Xq8X7da7Loi7yruwaUIqjYtAoJRTnjKKCVhku6q4GCundHRhuGsGoZtzwVjStNi0YDaI4yV7vvZvg_8wYJznaqHEYII08R8lELQQtudihb_aoDj7GgJ3cBDtC2EpG5S4BuUtA_ksgwa_uvbMa0RzQhy9PANsD13bA7X9UcvVpff4gzfc9Nk54c-iB8FuKuqgr-ePLUrasuSh-fV7Ls-Iv94Cjlw</recordid><startdate>201506</startdate><enddate>201506</enddate><creator>Yang, H.</creator><creator>Wang, Q.</creator><creator>Zheng, L.</creator><creator>Zhan, X.-F.</creator><creator>Lin, M.</creator><creator>Lin, F.</creator><creator>Tong, X.</creator><creator>Luo, Z.-Y.</creator><creator>Huang, Y.</creator><creator>Yang, L.-Y.</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><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>201506</creationdate><title>Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China</title><author>Yang, H. ; Wang, Q. ; Zheng, L. ; Zhan, X.-F. ; Lin, M. ; Lin, F. ; Tong, X. ; Luo, Z.-Y. ; Huang, Y. ; Yang, L.-Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4373-f4f8abb2eb1a8bb6b2210eba9bd267f7a0a521fad2d8610c12d29689cd9adca63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Alleles</topic><topic>China - epidemiology</topic><topic>DNA Mutational Analysis</topic><topic>Exons</topic><topic>Female</topic><topic>G6PD deficiency</topic><topic>gene mutation</topic><topic>Genetic Testing</topic><topic>Genotype</topic><topic>Glucosephosphate Dehydrogenase - genetics</topic><topic>Glucosephosphate Dehydrogenase Deficiency - diagnosis</topic><topic>Glucosephosphate Dehydrogenase Deficiency - epidemiology</topic><topic>Glucosephosphate Dehydrogenase Deficiency - genetics</topic><topic>high resolution melting analysis</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Mutation</topic><topic>Neonatal Screening</topic><topic>newborn screening</topic><topic>Polymerase Chain Reaction - methods</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yang, H.</creatorcontrib><creatorcontrib>Wang, Q.</creatorcontrib><creatorcontrib>Zheng, L.</creatorcontrib><creatorcontrib>Zhan, X.-F.</creatorcontrib><creatorcontrib>Lin, M.</creatorcontrib><creatorcontrib>Lin, F.</creatorcontrib><creatorcontrib>Tong, X.</creatorcontrib><creatorcontrib>Luo, Z.-Y.</creatorcontrib><creatorcontrib>Huang, Y.</creatorcontrib><creatorcontrib>Yang, L.-Y.</creatorcontrib><collection>Istex</collection><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>International journal of laboratory hematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yang, H.</au><au>Wang, Q.</au><au>Zheng, L.</au><au>Zhan, X.-F.</au><au>Lin, M.</au><au>Lin, F.</au><au>Tong, X.</au><au>Luo, Z.-Y.</au><au>Huang, Y.</au><au>Yang, L.-Y.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China</atitle><jtitle>International journal of laboratory hematology</jtitle><addtitle>Int. Jnl. Lab. Hem</addtitle><date>2015-06</date><risdate>2015</risdate><volume>37</volume><issue>3</issue><spage>410</spage><epage>419</epage><pages>410-419</pages><issn>1751-5521</issn><eissn>1751-553X</eissn><abstract>Summary
Introduction
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is highly prevalent in southern China. The aim of this study is to assess the extent of this disease in Chinese neonates and determine its molecular characteristics using a novel molecular screening method.
Methods
A total of 2500 neonates were routinely screened for G6PD deficiency using a modified fluorescent spot test (FST). PCR‐high‐resolution melting (HRM) analysis was then used for the molecular assay.
Results
The overall incidence of G6PD deficiency was 2.68% in our study cohort. Frequency in male population was 3.22% (44 neonates of 1365 male neonates), and in female population was 2.03% (23 neonates of 1135 female neonates). Of the 67 newborns suspected to be G6PD deficient based on FST (44 males, 23 females), 58 of 67 (87%) were detected with gene alterations. Seven kinds of mutations [c.95A>G, c.392G>T, c.493A>G, c.871G>A, c.1360C>T, c.1376G>T, and c.1388G>A] were identified by HRM analysis.
Conclusion
Routine newborn screening in Chaozhou, China with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation. The usage of molecular diagnosis can favor the detection of heterozygotes which can be a supplement to regular newborn screening and useful for premarital and prenatal diagnosis for G6PD deficiency.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>25440321</pmid><doi>10.1111/ijlh.12303</doi><tpages>10</tpages></addata></record> |
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| ispartof | International journal of laboratory hematology, 2015-06, Vol.37 (3), p.410-419 |
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| subjects | Alleles China - epidemiology DNA Mutational Analysis Exons Female G6PD deficiency gene mutation Genetic Testing Genotype Glucosephosphate Dehydrogenase - genetics Glucosephosphate Dehydrogenase Deficiency - diagnosis Glucosephosphate Dehydrogenase Deficiency - epidemiology Glucosephosphate Dehydrogenase Deficiency - genetics high resolution melting analysis Humans Incidence Infant Infant, Newborn Male Mutation Neonatal Screening newborn screening Polymerase Chain Reaction - methods |
| title | Incidence and molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency among neonates for newborn screening in Chaozhou, China |
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