Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A subject of this investigation is the results of the subtotal examination of 4 villages for the detection of heterozygous beta-thalassemic carriers. 848 persons (55.5% of the registered population) have been examined. The mean frequency of the beta-Th gene was 0.0159, FST-Wahlund--0.00975. Statistically significant differences in the gene frequencies between villages have been revealed (p less than 0.01). The study of genetic distances (by Edwards) has revealed no intertribe differences in gene frequencies. The comparison of findings of the present study with other similar investigations enabled to account for the detected differences in the frequencies of beta-thalassemia as a result of the genetic drift. The importance of choosing populations for the study and methods for detection heterozygous beta-thalassemia are discussed.
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PMID:[Medical genetic study of the population of Uzbekistan. V. The frequency of heterozygous beta-thalassemia in 4 kishlaks of Urgut District, Samarkand Province]. 15 29

Fetal erythrocytes leak from the fetal capillaries at the time of chorionic villus removal. The purpose of this study was to determine if fetal nucleated erythrocytes (NRBCs) could be isolated from the chorionic villus sampling (CVS) supernatant fluid and used as an additional source of fetal material in order to confirm the fetal karyotype in cases of CVS mosaicism. One hundred CVS supernatant fluids were studied by simultaneous immunophenotyping, using a mouse antifetal haemoglobin antibody, UCH gamma, combined with fluorescent in situ hybridization (FISH) analysis using X- and Y-specific DNA probes. A chromosome 18 probe was also used in the case of a known male fetus with trisomy 18. Fetal haemoglobin (HbF)-positive cells were identified in 73 supernatant fluids and HbF-positive nucleated cells were present in 60 samples. The number of cells detected per sample showed great variation among the individual samples. FISH analysis was performed in 41 cases. FISH prediction of the fetal gender was concordant with the CVS karyotype in all cases, and the fetal trisomy 18 was correctly verified. In five cases in which Y sequences were detected, a small number of HbF-positive cells with two X signals were also identified; interestingly, in three of the five cases, the mother was a beta-thalassaemia carrier. This technique can be used as a quick and accurate method for the immediate verification of CVS results in cases of mosaicism, thus avoiding second-trimester amniocentesis.
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PMID:Fetal nucleated erythrocytes (NRBCs) in chorionic villus sample supernatant fluids: an additional source of fetal material for karyotype confirmation. 924 65

The aim of this report is to present and discuss the results from diagnostic amniocenteses, performed in Varna. The test started as a part of a prophylaxis program for pregnant women with calculated high risk for chromosomal disorders after a screening test. Amniocentesis was performed in total of 283 pregnant women. Of all patients who underwent the screening test, amniocentesis was performed in 1.55% of women under 36 years of age and 5.0% of women over 36 years. In the selected group with calculated high risk for chromosomal disorder these percentages were 28.5% and 26% respectively. Fetal chromosomal disorder was found in 5% (in 7 out of 141) in women under 36 and 3.82% (in 7 out of 83) in women over 36 years. Genetic tests (DNA and cytogenetic analysis) of amniocytes revealed chromosomal disorders in 16 (5.65%) fetuses (8 with trisomy 21, 3 with trisomy 18, 1 with trisomy 13, 1 case with triploidy, 3 cases with structural chromosomal rearrangement). Three additional amniocenteses were performed, indicated by family history of monogenic disorder (thalassaemia, spinal muscular atrophy). The effect of the introduced method for prenatal diagnosis, its interaction with the screening tests and their future as genetic prophylaxis program are discussed.
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PMID:[The experience in genetic laboratory Varna in amniocentesis and genetic analysis for the period 2006-2010]. 2263 73