منابع مشابه
Prenatal diagnosis of β-thalassaemia by coelocentesis
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 β-thalassaemia and DNA analysis in their blood identified the mutation carried by each of them. Allelespecific polymerase chain reaction and denaturing gradient gel electrophoresis techniq...
متن کاملPrenatal diagnosis of beta-thalassaemia and other haemoglobinopathies in India.
This paper reports prenatal diagnosis of 787 fetuses of beta-thalassaemia and other haemoglobinopathies in Indian high-risk communities. DNA based diagnosis was offered in the first, as well as the second trimester, in 489 pregnancies (with five twins) on fetal tissues such as chorionic villus (CV) and amniocytes using the amplification refractory mutation system (ARMS) and restriction fragment...
متن کاملPrenatal diagnosis of beta-thalassaemia by chorionic villous sampling.
OBJECTIVE To establish intrauterine diagnosis of thalassaemia major in couples with thalassaemia trait by chorionic villous sampling. METHODS A total of 60 couples with children suffering from transfusion dependent beta-thalassaemia or couples who were known carriers of beta-thalassaemia were included in this study. The standard procedure was followed for the collection of samples which was f...
متن کاملSpectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis.
The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations ...
متن کاملPrenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype.
Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound an...
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ژورنال
عنوان ژورنال: BMJ
سال: 1984
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.288.6427.1321