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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