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

来源：

HUMAN HEREDITY | 1992年 / 42卷 / 05期

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.

引用

页码：327 / 329

页数：3

共 18 条

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