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Your search keyword '"Mesci L"' showing total 4 results
Start Over Author "Mesci L" Topic anemia, sickle cell
4 results on '"Mesci L"'

1. Genotype-phenotype analysis in HbS-beta-thalassemia.

Author

Altay C, Oner C, Oner R, Mesci L, Balkan H, Tüzmen S, Başak AN, Gümrük F, and Gürgey A

Subjects
Adolescent, Adult, Anemia, Sickle Cell blood, Anemia, Sickle Cell complications, Child, Child, Preschool, Female, Genotype, Hemoglobin, Sickle genetics, Humans, Infant, Male, Phenotype, Turkey, beta-Thalassemia blood, beta-Thalassemia complications, Anemia, Sickle Cell genetics, Mutation genetics, beta-Thalassemia genetics
Abstract

Genotypes and phenotypes were studied in 31 Turkish HbS-beta-thalassemia patients. In 19 patients the beta-thalassemia mutations were beta+ and in 12 the beta 0 phenotype. The IVSI-110 mutation was found in 45% of the patients. IVSI-1, beta 39, IVSII-1 and FSC8 are the genotypes associated with beta 0-thalassemia. Hematological data were evaluated at the time of diagnosis and 4 years after diagnosis. The mean HbF value was 13 +/- 7.8% at diagnosis and 9.7 +/- 7.8% 4 years later. A significant negative correlation was observed between the age of the patients and the HbF value (p < 0.05). No statistically significant differences were observed between the mean of hematological parameters in beta(+)- and beta 0-thalassemia patients except for the mean HbF value which were 10.7 +/- 6.9 and 15.9 +/- 7.7% in beta(+)- and beta 0-thalassemia, respectively (p < 0.05). The study indicated that beta-thalassemia mutations in trans to the HbS mutation do not exert any beneficial effect on the manifestation of the disease.

Published
1997
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3. Prenatal diagnosis of sickle cell anemia using PCR and restriction enzyme Dde I.

Author

Gürgey A, Beksaç S, Mesci L, Cakar N, Karakaş U, Kutlar A, and Altay C

Subjects
Anemia, Sickle Cell enzymology, Anemia, Sickle Cell genetics, Base Sequence, DNA Mutational Analysis, Female, Fetal Diseases enzymology, Fetal Diseases genetics, Humans, Molecular Sequence Data, Polymorphism, Restriction Fragment Length, Pregnancy, Anemia, Sickle Cell diagnosis, Deoxyribonucleases, Type I Site-Specific analysis, Fetal Diseases diagnosis, Polymerase Chain Reaction, Prenatal Diagnosis
Abstract

Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.

Published
1993

4. Prenatal diagnosis of sickle cell anemia using PCR and restriction enzyme Dde I

Author

Gürgey A, M.Sinan Beksac, Mesci L, Cakar N, Karakaş U, Kutlar A, and Altay C

Subjects
Fetal Diseases, Base Sequence, Pregnancy, Prenatal Diagnosis, DNA Mutational Analysis, Molecular Sequence Data, Deoxyribonucleases, Type I Site-Specific, Humans, Female, Anemia, Sickle Cell, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length
Abstract

Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.

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