230 research outputs found
Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.
No full textThe allele frequencies of 2 new polymorphic markers of collagen type I proalpha 1 (COL1A1) and proalpha 2 (COL1A2) genes were determined in a random sample of chromosomes by polymerase chain reaction. The minor allele frequencies were 0.27 for COL1A1/+88Mn1I, and 0.39 for COL1A2/1446 PvuII RFLPs, respectively. These 2 polymorphisms increased the combined (PIC) values we previously determined in the Italian population with Southern blotting procedures, from 0.71 at the COL1A1 locus to 0.81, and from 0.73 at the COL1A2 locus to 0.88, respectively. With a combination of these markers, we have carried out the segregation analysis of 4 new families in which osteogenesis imperfecta (OI) segregated as a dominant trait. The disease segregated with COL1A1 in 2 OI type I families, and with COL1A2 in one OI type IV family. In one OI type I family the concordant locus was uncertain. This analysis was extended to the 7 dominant OI families we previously reported: in 3 out of 11 pedigrees either loc..
Primi dati dal sito neolitico di Levata di Curtatone (MN). Dal terzo stile dei Vasi a Bocca Quadrata al tardoneolitico
No full textVengono presentati lo studio dei materiali culturali e le analisi archeobotaniche riguardanti il pozzo indagato a Levata di Curtatone, area che ha restituito quasi duecento strutture riconducibili a diverse fasi del Neolitico. Il pozzo riferibile al tardo Neolitico taglia i depositi che hanno colmato un debole avvallamento di forma subrettangolare, che sono verosimilmente databili al terzo stile dei vasi a bocca quadrata. Lo studio affronta in forma preliminare e parziale queste due fasi di frequentazione dell’area e si propone di definire i reciproci rapporti
Artois – Recensement des mottes castrales et des sites fossoyés
No full textDate de l'opération : 1988 (PI) Inventeur(s) : Demolon Pierre Dans le cadre d’une recension aussi exhaustive que possible des mottes castrales de la région Nord-Pas-de-Calais, à la fois utile à la gestion des sites et à la recherche historique, l’inventaire des mottes et maisons fortes d’Artois a été réalisé en 1988 par deux étudiants en maîtrise de l’université Charles-de-Gaulle-Lille III, sous la direction de M. Rouche et de la Société archéologique de Douai. Deux cent quarante-cinq sites ..
Pergine (TN), località “Ai Canopi”. Campagna di scavo 2019-2020. Una prospettiva numismatica
No full textMolecular defects and cellular dysfunctions in restricted growth conditions
No full textRestricted growth (RG) or dwarfism is a varied phenotype ascribable to many different causes, most of which are genetic. Conditions associated with disproportionate short stature (DSS) are usually caused by de novo dominant mutations in genes coding for proteins involved in cartilage/bone development. Rarer conditions, which may occur in inbred families, show an autosomal recessive inheritance. Causative mutations, consequent to cellular dysfunctions, genotype-to-phenotype correlations in RG conditions such as: Achondroplasia, Hypochondroplasia, Thanatophoric Dysplasia, Severe achondroplasia with delay in development and acanthosis nigricans, Pseudoachondroplasia, Multiple Epiphyseal Dysplasia, Diastrophic Dysplasia, Achondrogenesis, Osteogenesis Imperfecta, are discussed in this chapter
A de novo G to T transversion in a pro-alpha 1(I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain
No full textCultured fibroblasts from a patient affected with a moderate form of osteogenesis imperfecta were defective for the synthesis of type I collagen molecules; about half of the α1(I) chains contained a cysteine residue in the triple helical domain and a disulfide link formed when two mutant α1(I) chains were incorporated into a type I collagen heterotrimer. The proband's parents were clinically and biochemically normal. The cysteine was localized within peptide α1(I)CB8 between residues 170 and 200 of the triple helical domain using a chemical procedure with 2-nitro-5-thiocyanobenzoic acid (Tenni, R., Rossi, A., Valli, M., Mottes, M., Pignatti, P.F., and Cetta, G. (1990) Matrix 10, 20-26). Type I procollagen heterotrimers containing either one or two mutant chains showed (i) a slight abnormality in secretion from cells, (ii) a low degree of post-translational overmodifications; (iii) the same, but lower than normal, thermal stability. Total RNA was isolated from the proband's dermal fibroblast cultures, and cDNAs for pro-α1(I) were prepared using total RNA. A portion of cDNA, coding for the region encompassing residues 119-193 of α1(I) triple helical domain, was amplified by polymerase chain reaction. A single base pair mismatch was identified by chemical cleavage of DNA·DNA heteroduplexes, indicating a possible substitution of a guanine in the triplet coding for glycine 178 or 181. The same unique mismatch was detected by chemical cleavage in about one-half of the molecules in heteroduplexes formed between patient's pro-α1(I) mRNAs and a normal cDNA probe.The amplified products were cloned and sequenced, confirming the heterozygous nature of the patient and demonstrating the presence and the location of a missense mutation; a single T for G substitution was found in the first base of the triplet coding for residue 178 of α1(I) triple helical domain, leading to a cysteine for glycine substitution. Allele-specific oligonucleotide hybridization to amplified DNA confirmed a de novo point mutation in the proband's genome. The findings in this patient are in accord with the phenotypic gradient model, which correlates the localization of the structural defect with the clinical outcome of osteogenesis imperfecta. The mutant protein has some properties that differ from that caused by the cysteine for glycine 175 substitution, suggesting a direct influence of the neighboring amino acids on the effects of the mutation
Molecular genetics of osteogenesis imperfecta: from segregation analysis to the detection of mutations.
No full textConvergent transcription of the E.coli hisG gene cloned in B. subtilis stops in the vicinity of the attenuator
No full textA 5300-bp DNA segment containing the promoter, the attenuator and the first gene (hisG) of the Escherichia coli his operon has been inserted into an interspecific E. coli-Bacillus subtilis plasmid vector, pHV14. The resulting plasmid pPV48 restores the His+ phenotype to an E. coli hisG mutant, but fails to do so to a corresponding B. subtilis mutant. Experiments aimed at localizing the block to this heterologous expression in B. subtilis have shown that the enzymatic activity of the hisG+ gene product is neither detectable nor inhibited in crude extracts of B. subtilis cells harboring pPV48. Furthermore, electron microscopic, Southern blot and S1 mapping analysis of the transcripts produced in vitro and in vivo by B. subtilis RNA polymerase indicate that the hisG+ region is transcribed, but that the transcripts initiate at sites different from the his promoter, converge towards, and terminate in the vicinity of the attenuator
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24
No full textBenign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. On the basis of recent evidence of locus heterogeneity, we studied 19 subjects (7 affected members) of a BRIC family. Male-to-male transmission and the presence of affected females suggested autosomal dominant inheritance. Blood samples were collected after informed consent. Subjects were genotyped by using markers mapping to 18q and 2q24 region, respectively, where the genes FIC1 and FIC2 have been mapped. Segregation of haplotypes excluded the two regions in our family. These findings suggest further genetic heterogeneity of the origin of BRIC
Archaeobotany (pollen, macroremains) and land use history of the Copper and Bronze Age site at Gardolo di Mezzo (Trento, Italy).
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