Subject(s)
Hemoglobins, Abnormal/genetics , Introns/genetics , Phenotype , Adult , Alleles , DNA Mutational Analysis , Female , Genetic Counseling , Globins/genetics , Humans , Immunoblotting , Point Mutation/genetics , Pregnancy , TurkeyABSTRACT
Beta-thalassemia, an autosomal recessive disease, results from mutations of the beta-globin gene. More than 40 different mutations found in Turkish beta-thalassemia patients are mostly composed of point mutations, and only in very rare cases a deletion or an insertion causes beta-thalassemia phenotypes. Here, we report two patients who were clinically diagnosed with beta-thalassemia major and HbS/beta-thalassemia respectively. We performed reverse dot blot hybridization method and automated sequence analysis to detect the mutations. One of the patients was found to be IVS I.130 (G-C) homozygous, the other was HbS/IVS II.848 (C-A) as compound heterozygous. The aim of this study was to report hematological and clinical findings in both cases related with beta-globin gene defects that are very rare.
Subject(s)
Hemoglobin, Sickle/genetics , Point Mutation , Sequence Analysis, DNA/methods , beta-Thalassemia/genetics , Child , DNA/analysis , DNA/isolation & purification , Humans , Male , Turkey/epidemiology , beta-Thalassemia/diagnosisABSTRACT
AIMS: The aim of the present retrospective study was to evaluate the prognostic significance of Ki-67 and Proliferating cell nuclear antigen (PCNA) immunostaining and DNA content measured by flow cytometry (FCM) in epithelial ovarian tumours. Further, we compared these variables with histopathologic features and each other. METHODS: We used immunohistochemical methods on paraffin embedded tissue sections of 67 surgically resected epithelial ovarian neoplasms, diagnosed between 1987-1998, (benign serous n=12, benign mucinous n= 15, borderline mucinous n=3, malignant serous n= 15, malignant mucinous n=8, malignant endometrioid n=10, clear cell n=3 and malignant Brenner n= 1) for the presence of PCNA and Ki-67 reactivity. Samples from malignant and borderline tumours were also examined for DNA ploidy and S-phase fraction (SPF) by flow cytometry. Five malignant tumours were excluded because there was not sufficient tissue for flow cytometric analysis. CONCLUSION: There was no significant correlation between DNA ploidy, SPFs derived from FCM analysis, and proliferative activity, determined by PCNA and Ki-67 and the known histopathologic parameters of prognostic significance in ovarian epithelial malignancies.
