ABSTRACT
The fetal hemoglobin (HbF) levels and betaS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR) of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2 percent) patients had CAR/Ben genotype; 36 (28.8 percent) Ben/Ben; 18 (14.4 percent) CAR/CAR; 2 (1.6 percent) CAR/Atypical; 2 (1.6 percent) Ben/Cam; 1 (0.8 percent) CAR/Cam; 1 (0.8 percent) CAR/Arab-Indian, and 1 (0.8 percent) Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G>A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T>C substitution shared by all patients, and a c.-222_-225del related to the Cam haplotype. These results identify new polymorphisms in the HS2-LCR and Gg-globin gene promoter. Further studies are required to determine the correlation between HbF synthesis and the clinical profile of sickle cell anemia patients.
Subject(s)
Adult , Child , Child, Preschool , Humans , Middle Aged , Anemia, Sickle Cell/genetics , Deoxyribonuclease I/genetics , Globins/genetics , Locus Control Region/genetics , Fetal Hemoglobin/analysis , Genotype , Genetic Markers/genetics , Haplotypes , Promoter Regions, GeneticABSTRACT
Objective To investigate the polymorphism of the vitamin D receptor gene (VDR)TaqⅠin relation to diabetic retinopathy. Method Fragment length discrepant allele specific PCR(FLDAS-PCR) were used to determine VDR genetypes in 158 patients with diabetic retinopathy and in 198 normal subjects. Results The frequency distribution of VDR genotypes in diabetic retinopathy patients was 106 (67.1%) in TT, 33(20.9%) in Tt, 19(12.0%) in tt; and in normal persons was 165 (83.3%) in TT, 23(11.6%) in Tt, 10 (5.1%) in tt. There was a significant difference between diabetic retinopathy patients and normal persons in distribution of VDR gene TaqⅠgenotypes(P
ABSTRACT
Objective To explore molecular mechanism and the curative effect of Yisuishengxue powder and its function of the hepersensitive site 2 (HS2) in ?-globin gene cluster locus control region binding with nucleoprotein.Methods After 3 months treatment of Yisuishengxue powder, nucleoprotein was extracted from the morrow cell before and after treatment. The HS2 DNA probes was combined with nucleoproteins.Electrophoresis gel mobile lag was utilized for observing the mobile velocity of DNA segment.Observe the mobile velocity of DNA probes.Results The mobile velocity of probes combined with nucleoproteins before treatment was different form that of the controls, while it was very close to the controls after treatment.Conclusions It is suggested that this compounding medicine might affect the DNA segment of HS2 site in ?-LCR binding with nucleoprotein GATA-1, which may be one molecular mechanism of Chinese herb therapy.