国家自然科学基金(39670333)和华南生物科学与技术研究中心研究基金(华生01号)资助项目.
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). 为分析nd HPFH点突变提供了简单可靠的分子诊断方法.
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.
刘建伟,徐湘民.化学裂解法检测nd HPFH突变[J].生物化学与生物物理进展,1999,26(3):276-280
复制生物化学与生物物理进展 ® 2025 版权所有 ICP:京ICP备05023138号-1 京公网安备 11010502031771号