G6PD NanKang (517 T→C; 173 Phe→Leu): A New Chinese G6PD Variant Associated with Neonatal Jaundice
Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to change at nucleotide position 517, producing a Phel73Leu substitution in the human G6PD prote...
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| Veröffentlicht in: | Human heredity 1996-07, Vol.46 (4), p.201-204 |
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| container_title | Human heredity |
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| creator | Chen, Hua-Ling Huang, May-Jen Huang, Ching-Shan Tang, Tang K. |
| description | Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to change at nucleotide position 517, producing a Phel73Leu substitution in the human G6PD protein. Since the 517 mutation does not create or remove any known restriction site, we introduced an artificially created site by adding a primer containing a mismatched base to the PCR reaction mixture. The mismatched base accompanying the nearby 517 T→C mutation generates an XhoI site which is suitable for distinguishing normal from mutant alleles. Using this approach, the 517 mutation can be diagnosed quickly at the DNA level. |
| doi_str_mv | 10.1159/000154354 |
| format | Article |
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This new variant (G6PD NanKang) causes a T to change at nucleotide position 517, producing a Phel73Leu substitution in the human G6PD protein. Since the 517 mutation does not create or remove any known restriction site, we introduced an artificially created site by adding a primer containing a mismatched base to the PCR reaction mixture. The mismatched base accompanying the nearby 517 T→C mutation generates an XhoI site which is suitable for distinguishing normal from mutant alleles. Using this approach, the 517 mutation can be diagnosed quickly at the DNA level.</description><identifier>ISSN: 0001-5652</identifier><identifier>EISSN: 1423-0062</identifier><identifier>DOI: 10.1159/000154354</identifier><identifier>PMID: 8807322</identifier><identifier>CODEN: HUHEAS</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger</publisher><subject>Biological and medical sciences ; Classical genetics, quantitative genetics, hybrids ; Fetal Blood ; Fundamental and applied biological sciences. Psychology ; Genetic Variation - genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Glucosephosphate Dehydrogenase - genetics ; Glucosephosphate Dehydrogenase Deficiency - complications ; Glucosephosphate Dehydrogenase Deficiency - genetics ; Haplotypes ; Human ; Humans ; Infant, Newborn ; Jaundice, Neonatal - etiology ; Male ; Original Paper ; Point Mutation ; Polymerase Chain Reaction - methods ; Polymorphism, Single-Stranded Conformational</subject><ispartof>Human heredity, 1996-07, Vol.46 (4), p.201-204</ispartof><rights>1996 S. 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This new variant (G6PD NanKang) causes a T to change at nucleotide position 517, producing a Phel73Leu substitution in the human G6PD protein. Since the 517 mutation does not create or remove any known restriction site, we introduced an artificially created site by adding a primer containing a mismatched base to the PCR reaction mixture. The mismatched base accompanying the nearby 517 T→C mutation generates an XhoI site which is suitable for distinguishing normal from mutant alleles. Using this approach, the 517 mutation can be diagnosed quickly at the DNA level.</description><subject>Biological and medical sciences</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Fetal Blood</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Variation - genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Glucosephosphate Dehydrogenase - genetics</subject><subject>Glucosephosphate Dehydrogenase Deficiency - complications</subject><subject>Glucosephosphate Dehydrogenase Deficiency - genetics</subject><subject>Haplotypes</subject><subject>Human</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Jaundice, Neonatal - etiology</subject><subject>Male</subject><subject>Original Paper</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Polymorphism, Single-Stranded Conformational</subject><issn>0001-5652</issn><issn>1423-0062</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkUtOwzAQQC0EKuWzYA-SJRCCRcB_J7CqSqFABV0A28hJJjQlTUqcCHEBDsAROQkurdoNq9H4vbHmg9AeJWeUyuCcEEKl4FKsoTYVjHuEKLaO2rN3TyrJNtGWtWOX-kTzFmr5s8hYG8GNGl7hB1Pcm-IVn0iq8dPP13f3ElPN8XAELhlAc3qBO_gBPnB3lBVgAf-VvZgqM0WNO9aWcWZqSPBHVo-cWBamNjm-M02RZDHsoI3U5BZ2F3EbPV_3nrp9b_B4c9vtDLwxJ6r2RBQonxAeBFQarXREU0i50iyQikvKhBsnShj1GSgFkRCxGyJIBESuPPEjvo2O5_9Oq_K9AVuHk8zGkOemgLKxofY5U5r4TjxYiE00gSScVtnEVJ_hYi-OHy24sbHJ08oUcWaXGqeEakKdtj_X3kz1CtWSz4_h8OG_uN_vzY1wmqSrXsa2LleSkJQwKiX_BewkipQ</recordid><startdate>19960701</startdate><enddate>19960701</enddate><creator>Chen, Hua-Ling</creator><creator>Huang, May-Jen</creator><creator>Huang, Ching-Shan</creator><creator>Tang, Tang K.</creator><general>S. Karger</general><general>Karger</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>19960701</creationdate><title>G6PD NanKang (517 T→C; 173 Phe→Leu): A New Chinese G6PD Variant Associated with Neonatal Jaundice</title><author>Chen, Hua-Ling ; Huang, May-Jen ; Huang, Ching-Shan ; Tang, Tang K.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-j306t-4b9680039915a767b1fef367295635124001bd2182e66eb44c7329d4eb306d8b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Biological and medical sciences</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Fetal Blood</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Variation - genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Glucosephosphate Dehydrogenase - genetics</topic><topic>Glucosephosphate Dehydrogenase Deficiency - complications</topic><topic>Glucosephosphate Dehydrogenase Deficiency - genetics</topic><topic>Haplotypes</topic><topic>Human</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Jaundice, Neonatal - etiology</topic><topic>Male</topic><topic>Original Paper</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Polymorphism, Single-Stranded Conformational</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chen, Hua-Ling</creatorcontrib><creatorcontrib>Huang, May-Jen</creatorcontrib><creatorcontrib>Huang, Ching-Shan</creatorcontrib><creatorcontrib>Tang, Tang K.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Human heredity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chen, Hua-Ling</au><au>Huang, May-Jen</au><au>Huang, Ching-Shan</au><au>Tang, Tang K.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>G6PD NanKang (517 T→C; 173 Phe→Leu): A New Chinese G6PD Variant Associated with Neonatal Jaundice</atitle><jtitle>Human heredity</jtitle><addtitle>Hum Hered</addtitle><date>1996-07-01</date><risdate>1996</risdate><volume>46</volume><issue>4</issue><spage>201</spage><epage>204</epage><pages>201-204</pages><issn>0001-5652</issn><eissn>1423-0062</eissn><coden>HUHEAS</coden><abstract>Using a non-radioactive PCR-SSCP technique, we identified a novel glucose-6-phosphate dehydrogenase (G6PD) mutation in a Chinese newborn with neonatal jaundice. This new variant (G6PD NanKang) causes a T to change at nucleotide position 517, producing a Phel73Leu substitution in the human G6PD protein. Since the 517 mutation does not create or remove any known restriction site, we introduced an artificially created site by adding a primer containing a mismatched base to the PCR reaction mixture. The mismatched base accompanying the nearby 517 T→C mutation generates an XhoI site which is suitable for distinguishing normal from mutant alleles. Using this approach, the 517 mutation can be diagnosed quickly at the DNA level.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger</pub><pmid>8807322</pmid><doi>10.1159/000154354</doi><tpages>4</tpages></addata></record> |
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| ispartof | Human heredity, 1996-07, Vol.46 (4), p.201-204 |
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| language | eng |
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| source | Jstor Complete Legacy; MEDLINE |
| subjects | Biological and medical sciences Classical genetics, quantitative genetics, hybrids Fetal Blood Fundamental and applied biological sciences. Psychology Genetic Variation - genetics Genetics of eukaryotes. Biological and molecular evolution Glucosephosphate Dehydrogenase - genetics Glucosephosphate Dehydrogenase Deficiency - complications Glucosephosphate Dehydrogenase Deficiency - genetics Haplotypes Human Humans Infant, Newborn Jaundice, Neonatal - etiology Male Original Paper Point Mutation Polymerase Chain Reaction - methods Polymorphism, Single-Stranded Conformational |
| title | G6PD NanKang (517 T→C; 173 Phe→Leu): A New Chinese G6PD Variant Associated with Neonatal Jaundice |
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