GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANTS IN HAWAII

被引:33
作者
BEUTLER, E
WESTWOOD, B
KUHL, W
HSIA, YE
机构
[1] UNIV HAWAII, JOHN A BURNS SCH MED, DEPT GENET, HONOLULU, HI 96822 USA
[2] UNIV HAWAII, JOHN A BURNS SCH MED, DEPT PEDIAT, HONOLULU, HI 96822 USA
[3] KAPIOLANI MED CTR, HONOLULU, HI USA
关键词
POLYMORPHISM; MUTATION; GLUCOSE-6-PHOSPHATE DEHYDROGENASE; CHINESE; FILIPINO; LAOTIAN;
D O I
10.1159/000154092
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
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 Andalus.
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收藏
页码:327 / 329
页数:3
相关论文
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