Biomedical subjects
Publications and source records attributed to G Novelli.
We describe use of a polymerase chain reaction in conjunction with a DNA enzyme immunoassay for the simultaneous detection of multiple types of human papillomavirus in a single microtiter plate. The method is specific, sensitive, rapid, and capable of detecting human papillomavirus-6, -11, -16, -18, and -33 in cervical biopsy specimens.
The Authors considered the relationship between hypogonadism in myotonic dystrophy (MD) and MT-PK gene mutation. Twenty-seven subjects were studied, and the (CTG)n amplification varied from 70 to 1520 (mean 661 +/- 463). Hypergonadotropic-hypogonadism with LH levels of 6.94 +/- 3.87 and FSH 14.54 +/- 9.58 IU/L was present; testosterone still showed normal values (505.7 +/- 376.2 ng/dl), but 44.4% of patients had abnormal serum level less than 250 ng/dl. We found a significant correlation (p < 0.001) between CTG repeat size and levels of both LH and FSH: these findings suggest that the severity of hypogonadism is related to MT-PK gene mutation.
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Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compared the frequency of mutations in this exon with that of other regions of the CFTR gene. The results obtained indicate an accumulation of mutations, not only in regions encoding the two nucleotide binding folds, but also in those encoding transmembrane domains of the CFTR gene, in particular exon 17b.
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We report here the isolation and characterization of a novel human elongation factor-1 beta (EF-1 beta) gene by cDNA selection from YAC mapping on chromosome 5q12-q14. This gene is specifically transcribed in fetal brain and in skeletal muscle and is characterized by a complete sequence homology with previously described EF-1 beta cDNAs. We also assigned the loci for three other EF-1 beta isoforms, to human chromosomes 2, 15 and X. The multiple chromosomal assignments of EF-1 beta loci demonstrates the genetic heterogeneity of human EF-1 beta peptides.
We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production.
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.
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.
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A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A significant correlation between clinical severity and the number of repeats at the 3' untranslated region of the myotonin-protein kinase gene (MT-PK) was found. These results suggest that the CTG amplification is directly related to the myotonic dystrophy phenotype and provide important information on morbidity and prognosis in this disease.
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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.
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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.
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