葡萄糖-6-磷酸脱氢酶
突变
脱氢酶
遗传学
生物
互补DNA
分子生物学
起始密码子
过渡(遗传学)
基因
生物化学
酶
基序列
作者
Ernest Beutler,Beryl Westwood,W Kühl,Y. Edward Hsia
出处
期刊:Human Heredity
[Karger Publishers]
日期:1992-01-01
卷期号:42 (5): 327-329
被引量:31
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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