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Biomedical subjects

B Dallapiccola

Publications and source records attributed to B Dallapiccola.

At least 235 records · Page 13Linked to original sources
PubMed1993

Detection by capillary electrophoresis of restriction fragment length polymorphism. Analysis of a polymerase chain reaction-amplified product of the DXS 164 locus in the dystrophin gene.

Capillary electrophoresis (CE) was used to characterize restriction fragment length polymorphism (RFLP) in a polymerase chain reaction (PCR)-amplified product of a 740-base pairs DNA fragment from the DXS 164 locus of the dystrophin gene. The polymorphic alleles of 740 and 520/220 base pairs revealed by XmnI digestion were analysed from homozygous and heterozygous individuals by CE. Our studies show that extraction in phenol-chloroform may be useful in PCR-amplified product purification. Excellent separation was obtained in a short time. The data indicate that CE is suitable for genomic analysis such as carrier detection and prenatal diagnosis of X-linked recessive disorders after purification of PCR-amplified products.

Adult↗
PubMed1993

Risk of congenital heart defects in relatives of patients with atrioventricular canal.

OBJECTIVE: To investigate the overall occurrence of congenital heart disease in 103 pedigrees with a proband affected with atrioventricular canal. DESIGN: Family study of patient series. SETTING: Department of Pediatric Cardiology, Bambino Gesu' Hospital, Rome, Italy. PARTICIPANTS: One hundred three consecutive patients with atrioventricular canal and normal karyotype and their first- and second-degree relatives. INTERVENTIONS: None. MEASUREMENTS/MAIN RESULTS: In 12 pedigrees (11.7%), one or more relatives had concordant or discordant congenital heart disease. Congenital heart disease occurred in four (1.9%) of the 206 parents of probands, in four (3.6%) of the 111 siblings, and in five (0.8%) of the 644 uncles or aunts. None of the grandparents had congenital heart disease. Atrioventricular canal affected several family members in five pedigrees. CONCLUSIONS: Familial aggregation of atrioventricular canal in several pedigrees requires careful collection of family histories, accurate cardiologic evaluation of the first- and second-degree relatives of the probands, and fetal echocardiography in all pregnant women in at-risk families.

Adolescent↗
PubMed1993

Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene.

The genomic 3' structure of the gene coding for the human slow skeletal troponin T (TNNT1) gene, is reported. An intron of 912 nucleotides containing an Alu-element has been identified and characterized. The complexity of the sequenced region suggests an alternative exon use. The present results may be valuable for further studies on the gene structure of TNNT1 and the related troponin gene family.

Base Sequence↗
PubMed1993

On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome.

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

Adult↗
PubMed1993

A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.

DNA was recovered from sections of muscle biopsies of 20 spinal muscular atrophy (SMA) patients fixed on microscopic slides and stored from one to 20 years at room temperature. Microsatellite DNA markers tightly linked to the SMA locus were amplified using the polymerase chain reaction (PCR) to obtain specific amplified products. The procedure was successful in all cases, and allowed prenatal diagnosis in one at-risk pregnancy. In our hands this procedure is quick, sensitive and reproducible.

Alleles↗
PubMed1993

Plasmid DNA and low-frequency electromagnetic fields.

Physico-chemical and biological properties were studied in recombinant plasmids exposed to electric and magnetic fields (EMFs). The absence of slow-migrating DNA species and failure to identify induced DNA conformers, suggests that EMFs do not have any obvious genotoxic effect in any of the experimentally tested conditions.

DNA Damage↗
PubMed1993

Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.

Five members in three generations of a family were affected by a congenital heart disease. Four of them had mild or severe coarctation of the aorta (CoA), either isolated or in association with other cardiac defects. Fetal echocardiography allowed prenatal diagnosis in one pregnancy at risk. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with high penetrance and variable expressivity rather than polygenic inheritance.

Adult↗
PubMed1993

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.

The expression of myotonin-protein kinase (MT-PK) gene was studied in myotonic dystrophy (DM) muscle and normal controls using a polymerase chain reaction protocol to analyse the 3' intragenic p(CTG) polymorphism. Unaffected individuals show bi-allelic expression, while the sole wild-type allele was transcribed in DM muscle. Our findings support a gene dosage effect in the pathogenesis of the disease.

Adult↗
PubMed1992

Familial aplasia cutis congenita and coarctation of the aorta.

We report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi-factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation.

Adult↗