Research On Promoter Methylation Of Thalassemia Gene

Objective:To investigate the changes of thalassemia globin gene associated with methylation of the promoter region of the state, in order to fully understand the molecular mechanism of the disease to provide a theoretical basis, and the search for new diagnostic, prevention and treatment of thalassemia in the provision of the corresponding laboratory data.Methods:Collected 75 cases diagnosed in patients with thalassemia blood samples in May 2008-2010 on Oct as disease group,43 cases were male,32 female, ages span from newborns to 65 years old. All the cases include athalassemia patients 15 cases(male 6 cases, female 9 cases),β-thalassemia patients 56 cases(male 35 cases, female 21 cases), aβthalassemia patients 4 cases(male 2 cases, female 2 cases). The control group include normal population and non-globin gene defect in patients with benign disease 43 cases. By MSP and bisulfite sequencing of the modified peripheral blood of thalassemia globin promoter methylation and gene deletions and mutations of different types of patients, the correlation analysis of results using SPSS16.0 package statistical analysisResult:1,The results of globin gene promoter methylation status in thalassemia patients show that:①In all the 15 cases a thalassemia patients,4 cases are methylation positive, the positive rate is 26.7%, but there are 2 cases positive in the 43 cases control group; there is no statistical significance between the two group(P>0.05);②There is no detecable globin gene promoter methylation, the methylation positive rate is 0.0%,but 5 cases are detected methylation in all the 43 cases control group, the difference has statistical significance(P<0.05).③None of the 4 cases aBthalassemia was detected that the promoter of the globin gene was methylation.2,The positive methylation cases do bisulfite sequencing show that:there are some methylation Loci:-75,-77,-93,-130.Conclusion:1,In the survey, in theα-thalassemia patients, we found methylation positive cases. Because of the number is less and only testing some of the CpG islands, compared with control group, there is no statistical significance. So wether the globin gene promoter methylation is one of the mechanisms of athalassemia still can not be confirmed. For the reason of the less number, the result of the squencing can not do analysis the correlation between the methylation Loci in promoter with thlassemia.2,No methylation positive cases were found inβ-thalassemia patients.In our survy,the contrl group have less positive rate,but we also think that there may be on relationship betweenβthalassemia with the globin gene promoter methylation...