摘要
在调查云南少数民族Ｇ６ＰＤ缺乏症时，采用Ｇ６ＰＤ硝基四氮唑蓝纸片法筛查，按ＷＨＯ标准化方法进行生化变异型鉴定，再用错配碱基ＰＣＲ引入酶切位点法进行ＤＮＡ突变型研究，首次在傣族中发现Ｇ６ＰＤｃＤＮＡ突变型：１３８８Ｇ→Ａ。
Screening G6PD deficient patients with Nitroblue Tetrazolium Paper Strip method in Dai minority nationality in Yunnan province,China,the authors found the prohand who had contracted favism.The biochemical characterization was performed according to the WHO-recommonded procedure.The mismatch introduced PCR and restriction endonuclease analysis were used to detect the proband and his family.A single mismatched nucleotide was introduced into the 3'end of the primer to creat NdeⅠsite,which was generated to detect the G6PD cDNA 1388 G to A(Arg 463 to His)mutation.A G6PD cDNA 1388 mutation was determined first in Dai minority nationality.The result showed that the point mutation of G6PD did not relate to ethnic groups,but it related to the hot spots of mutation.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1996年第4期231-232,共2页
Chinese Journal of Medical Genetics
关键词
蚕豆病
突变型
G6PD
家系史
傣族
Dai population Glucose-6-phosphate dehydrogenase deficiency Polymerase chain reaction Mutation
