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C Altay

Publications and source records attributed to C Altay.

149 records · Page 9Linked to original sources
PubMedDate not supplied

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

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.

Anemia, Sickle Cell↗
PubMedDate not supplied

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.

Approximately 25% of patients with Fanconi anemia (FA) have evidence of spontaneously occurring mosaicism as manifest by the presence of two subpopulations of lymphocytes, one of which is hypersensitive to cross-linking agents (e.g. mitomycin C) while the other behaves normally in response to these agents. The molecular basis of this phenotypic reversion has not yet been determined. We have investigated 8 FA patients with evidence of mosaicism. Epstein-Barr virus-immortalized lymphoblastoid cell lines established from these patients exhibited an IC50 for mitomycin C of 25 to > 100 nM compared to a mean of 2 +/- 2 nM for 20 nonmosaic FA patients and 49 +/- 11 nM for 8 healthy controls. In 3 patients who were compound heterozygotes for pathogenic FAC gene mutations the molecular mechanism of the mosaicism was investigated by haplotype analysis. The results indicated that an intragenic mitotic recombination must have occurred leading to a segregation of a wild-type allele in the reverted cells and suggested two patterns of recombination. In 1 patient a single intragenic crossover between the maternally and paternally inherited mutations occurred associated with markers located distally to the FAC gene; in the other 2 patients (sibs) the mechanism appears to have been gene conversion resulting in segregants which have lost one pathogenic mutation. In 6 of the 8 patients the hematological symptoms were relatively mild despite an age range of 9-30 years.

Adolescent↗
PubMedDate not supplied

Serum erythropoietin in children with iron deficiency anemia.

Serum erythropoietin (EPO) levels were determined in 30 children with iron deficiency anemia. The mean age of the children, hemoglobin (Hb) levels, serum EPO levels and log EPO values were 4.7 +/- 5 years, 6.7 +/- 1.7 g/dl, 2284 +/- 3177 mU/ml and 2.81 +/- 0.82, respectively. In 83 percent of the patients poor diet was the determined cause of iron deficiency and in the remaining 17 percent, chronic blood loss. A significant negative correlation was found between the log EPO values and Hb values (r = 0.62, p < 0.01). There was no significant correlation between log EPO values and the other parameters [sex, age, mean corpuscular volume (MCV) red blood cell (RBC) red cell distribution width (RDW), serum iron, iron binding capacity]. There was a significant difference in the age of the patients with an Hb value < 5.5 g/dl and those with a value > or = 5.5 Significant differences were also observed in log EPO levels among these patients (p < 0.004). The mean Hb value of patients with log EPO values > or = 3 was lower than that in patients with log EPO values < 3 (p < 0.003). In 20 percent of the patients, serum EPO levels were much lower than the values expected from their Hb level. Serum EPO levels were high in all five patients with a history of chronic blood loss.

Adolescent↗