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E D'Alcamo

Publications and source records attributed to E D'Alcamo.

7 recordsLinked to original sources
PubMed1995

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVS17bCA, located in intron 17b and a CA repeat (IVS8CA) located in intron 8 of the CFTR gene, were analyzed in a large sample of Italian cystic fibrosis (CF) and normal chromosomes. Linkage disequilibrium was evaluated between each marker and difference CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all delta F508 chromosomes derive from a single mutational event. The same hypothesis is valid for mutations G542X, N1303K, 1717-1G-->A, which might have been originated more recently than delta F508.

Cystic Fibrosis↗
PubMed1995

Simultaneous detection of fourteen Italian cystic fibrosis mutations in seven exons by reverse dot-blot analysis.

The increasing number of cystic fibrosis (CF) mutations is a great obstacle to the use of DNA procedures in the detection of gene defects. We describe a fast, cheap and non-radioactive procedure, Reverse dot-blot analysis (RDB), for the simultaneous detection of CF mutations in the Italian population. We used this approach to study seven exons of the CF gene for 14 CF gene defects and were able to characterize 222 of 272 CF chromosomes (80%). The cost of the procedure was $25 per sample analysed.

Alleles↗
PubMed1991

Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks' gestation.

Prenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first-trimester prenatal diagnosis possible. However, these procedures need previous studies of at-risk couples, which can be very time-consuming when a number of different beta-thalassaemia mutations occur in the region. We describe the possibility of making a first-trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p greater than 0.05) between beta/gamma values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis.

Female↗
PubMedDate not supplied

First trimester fetal blood sampling.

The authors report 8 diagnostic cordocentesis performed at the end of the first trimester. The indication was thalassemia (5 cases) and karyotyping (3 cases). The technique requires that the operator holds both the probe and the needle (25 G X 90 mm); the fetal blood sample ranged between 0.25 and 0.35 cc, sufficient in all cases for the diagnosis. 1 pregnancy was terminated on the basis of the diagnostic result; no complications reported at a 3-weeks follow-up in the remaining 7 patients. The first trimester cordocentesis offers several advantages if compared to CVS, especially for thalassemia prenatal diagnosis; furthermore it opens new perspectives for intrauterine transplantations. More experience is required to assess the safety of the procedure.

Blood Specimen Collection↗