摘要
为进行中国人遗传性持续性胎儿血红蛋白增多症（ＨＰＦＨ）的分子病理学研究，以四种已知非缺失型ＨＰＦＨ突变样品为研究材料，建立了针对二种γ珠蛋白基因（Ｇγ和Ａγ）的点突变筛查技术———化学裂解法（ＣＣＭ）．
In order to study the molecular pathology of hereditary persistence of fetal hemoglobin (HPFH) in Chinese, PCR based chemical cleavage of mismatch (CCM) method was used for defining the point mutations causing non deletional HPFH. 415 bp Gγ and Aγ globin gene promoter regions of 4 previously identified mutants were amplified by nested PCR, then the mutations were detected by CCM, and the optimal condition was determined. It was proved that CCM is a simple and reliable molecular diagnostic method for the detection of nd HPFH point mutations.
出处
《生物化学与生物物理进展》
SCIE
CAS
CSCD
北大核心
1999年第3期276-280,共5页
Progress In Biochemistry and Biophysics
基金
国家自然科学基金
华南生物科学与技术研究中心研究基金
关键词
化学裂解法
点突变检测
γ-珠蛋白基因
HPFH
chemical cleavage of mismatch,point mutation detection,γ globin gene, hereditary persistence of fetal hemoglobin
