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.
LIU Jian-Wei, XU Xiang-Min. Detection of nd HPFH Mutations by Using Chemical Cleavage of Mismatch Technique[J]. Progress in Biochemistry and Biophysics,1999,26(3):276-280
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