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Glucose-6-Phosphate Dehydrogenase Variants in Hawaii

 

作者: E. Beutler,   B. Westwood,   W. Kuhl,   Y.E. Hsia,  

 

期刊: Human Heredity  (Karger Available online 1992)
卷期: Volume 42, issue 5  

页码: 327-329

 

ISSN:0001-5652

 

年代: 1992

 

DOI:10.1159/000154092

 

出版商: S. Karger AG

 

关键词: Polymorphism;Mutation;Glucose-6-phosphate dehydrogenase;Chinese;Filipino;Laotian

 

数据来源: Karger

 

摘要:

Sequence analysis has been performed on the DNA of 13 glucose-6-phosphate dehydrogenase (G6PD) deficient males from Hawaii, 6 of Filipino, 6 of Laotian, and 1 of Chinese extraction. Four different mutations were found: A→T at cDNA nt 835, G→A at nt 871, C→T at nt 1360, and G→A at nt 1388. The mutations at nt 835 and nt 1360 have not been described previously, and the latter, in particular, appears to be relatively common. The nt 1360 mutation changes the same codon as is altered in a previously described mutation, G6PD

 

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