摘要
G6 PD缺乏症是一种最常见的 X连锁不完全显性遗传性酶病 ,鉴定 G6 PD基因突变可深入了解 G6 PD结构与功能的关系。中国人 G6 PD突变型特点为 :1共发现 15个突变型 ,均为点突变 ,其中以 G1376 T、G1388A、A95 G 3型占73.6 %。 2少数民族与汉族的基因突变型基本相似。 3海外华人有共同的 G6 PD特征。研究发现 ,各型基因突变均可引起新生儿高胆红素血症、急性溶血性贫血等 ,也与病毒性肝炎、白血病、淋巴瘤等疾病的发生有一定关系。
Glucose 6 phosphate dehydrogenase (G6PD) deficiency is th e most common hereditary disease with χ-linked incomplete dominant heredity.To ex pertise G6PD mutation will make us deeply understand the relation between its st r ucture and function.The character of G6PD mutation in chinese are:①The all 15 m utation type are point mutation,of which LSG1376T、G1388A、A95G make up to 73.6% .②Minority and Han nation have the same gene mutation type ③Oversea Chinese ha ve the same G6PD Character.Our Studies suggest that all the gene mutation may le ad to jaundice of the newborn,acute hemolytic anaemia,and have some relation to viral hepatitis,leukaemia,lymphoma.
出处
《华夏医学》
2001年第3期392-395,共4页
Acta Medicinae Sinica
