摘要
一对Ｇ６ＰＤ缺乏的孪生子作了生化变异型鉴定后，对其中一例进行了基因分析。生化变异型鉴定的所有参数都极为相近，且未见文献报告过，定名Ｇｄ（－）Ｓｈｕｎｄｅ（顺德）．基因顺序分析发现ｃＤＮＡ第５９２位核苷酸由Ｃ变为Ｔ，在中国中未见报告。其为在中国人中发现的第七种突变，故暂命名为Ｃｈ７（或Ｃ７）突变。
A pair of erythrocyte 06PD deficient twins was studied for their G6PD biochemical characters and the gene mutation.The biochemical characterization was performed according to WHO recommended procedure.The gene mutation was detected by dideoxy-chain termination method after amplifying a series of G6PD gene segments followed by an asymmetric PCR(APCR) .The results showed a dramatic similarity of the biochemical characters between the twins, and were different from other variants in the literature so far reported.Thus the variant was considered as a new one and designated as Gd(-) Shunde.The underlying mutation of the variant was found in the exon 6, and the cDNA 592 changed from C to T with the corresponding change of amino-acid from arginine to cysteine, The authors proposed that the altered binding sites of G6P and NADP were responsible for the significant change of substrate analogues utilization rate and the low Km G6P, Recently, a Mediterranean variant with an unexpected cDNA 592 C-T transition was reported, It implies one or more mutation hot-region exists and the race difference could not be always considered important.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1994年第3期129-131,T009,共3页
Chinese Journal of Medical Genetics
关键词
红细胞缺陷病
基因突变
新生儿
Glucose-phosphate dehydrogenase
Glucose-6-phosphate dehydrogenase deficiency
Mutation
