Prenatal diagnosis of beta-thalassaemia by coelocentesis
| Autor: | D Lolis, V Kranas, Ioannis Georgiou, K Zikopoulos, G Makrydimas |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Male
Embryology Polymerase Chain Reaction/methods Apolipoproteins B/genetics Placenta Polymerase Chain Reaction Globins/*genetics law.invention Pregnancy law Prenatal Diagnosis Polymerase chain reaction Genetic Carrier Screening Obstetrics and Gynecology Beta thalassemia Heart Rate Fetal Globins beta-Thalassemia/*diagnosis/embryology Prenatal Diagnosis/*methods Variable number tandem repeat medicine.anatomical_structure Inhalation Chorionic villi Gestation Female medicine.medical_specialty Gestational Age Prenatal diagnosis Biology Heterozygote Detection Andrology Internal medicine Genetics medicine Humans Molecular Biology Alleles Apolipoproteins B Repetitive Sequences Nucleic Acid Fetus beta-Thalassemia DNA DNA/isolation & purification Cell Biology Embryo Mammalian medicine.disease Pregnancy Trimester First Endocrinology Reproductive Medicine Mutation Developmental Biology |
| Zdroj: | Molecular Human Reproduction. 3:729-731 |
| ISSN: | 1460-2407 |
| DOI: | 10.1093/molehr/3.8.729 |
| Popis: | Coelomic fluid and placental tissue were obtained from four women undergoing termination of pregnancy at 7-9 weeks gestation for psychological reasons. All four women and their partners were known carriers of beta-thalassaemia and DNA analysis in their blood identified the mutation carried by each of them. Allelespecific polymerase chain reaction and denaturing gradient gel electrophoresis techniques were used to detect and identify the mutations in the DNA extracted from the coelomic cells and placental tissue. Three fetuses were found to be carriers of either the paternal or maternal mutation, while one was found to be affected by beta-thalassaemia. There was concordance in the results obtained from the chorionic villi and coelomic cells. Amplification of the apolipoprotein B gene variable number tandem repeats (VNTR), in the DNA of the coelomic cells showed normal sagregation of alleles in the fetuses, thus excluding maternal contamination. The results of this study demonstrate that coelocentesis may be a reliable alternative technique for the diagnosis of beta-thalassaemia from as early as 7 weeks gestation. Mol Hum Reprod |
| Databáze: | OpenAIRE |
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