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ABSTRACT: A method of authenticating anchovy (Engraulis encrasicholus L.) and gilt sardine (Sardinella aurita) semipreserves (salt-cured and fillets in oil) has been developed by polymerase chain reaction (PCR) followed by sequence and restriction site analysis. The amplification of a fragment of the cytochrome b gene by universal primers produced a 376 base pairs (bp) fragment in all samples analyzed. Digestion of PCR products with XhoI, TaqI, AluI, and HinfI endonucleases yielded species-specific profiles distinguishing anchovy from gilt sardine. Therefore, the restriction length fragment polymorphism (RLFP) technique can be used to determine the species identity of anchovy and gilt sardine in semipreserves.
Journal of Agricultural and Food Chemistry 04/2001; 49(3):1194-9. · 2.82 Impact Factor
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T M Neri, P Zanelli,
G De Palma,
M Savi,
S Rossetti,
A E Turco,
G F Pignatti,
L Galli,
M Bruttini,
A Renieri,
R Mingarelli,
A Trivelli,
A R Pinciaroli,
M Ragaiolo,
G F Rizzoni,
M De Marchi
Human Mutation 02/1998; Suppl 1:S106-9. · 5.69 Impact Factor
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A Renieri,
M Bruttini,
L Galli, P Zanelli,
T Neri,
S Rossetti,
A Turco,
N Heiskari,
J Zhou,
R Gusmano,
L Massella,
G Banfi,
F Scolari,
A Sessa,
G Rizzoni,
K Tryggvason,
P F Pignatti,
M Savi,
A Ballabio,
M De Marchi
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ABSTRACT: The COL4A5 gene encodes the alpha5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients. We have previously reported nine major rearrangements, as well as 18 small mutations identified in the same patient series by SSCP analysis of several exons. After systematic analysis of all 51 exons of COL4A5, we have now identified 30 different mutations: 10 glycine substitutions in the triple helical domain of the protein, 9 frameshift mutations, 4 in-frame deletions, 1 start codon, 1 nonsense, and 5 splice-site mutations. These mutations were either unique or found in two unrelated families, thus excluding the presence of a common mutation in the coding part of the gene. Overall, mutations were detected in only 45% of individuals with a certain or likely diagnosis of X-linked AS. This finding suggests that mutations in noncoding segments of COL4A5 account for a high number of X-linked AS cases. An alternative hypothesis is the presence of locus heterogeneity, even within the X-linked form of the disease. A genotype/phenotype comparison enabled us to better substantiate a significant correlation between the degree of predicted disruption of the alpha5 chain and the severity of phenotype in affected male individuals. Our study has significant implications in the diagnosis and follow-up of AS patients.
The American Journal of Human Genetics 07/1996; 58(6):1192-204. · 10.60 Impact Factor
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A Renieri,
L Galli,
A Grillo,
M Bruttini,
T Neri, P Zanelli,
G Rizzoni,
L Massella,
A Sessa,
M Meroni,
L Peratoner,
P Riegler,
F Scolari,
M Mileti,
M Giani,
M Cossu,
M Savi,
A Ballabio,
M De Marchi
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ABSTRACT: Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with X-linked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 177 Italian Alport syndrome families by Southern blotting using cDNA probes from both COL4A5 and COL4A6. Nine unrelated families, accounting for 5% of the cases, were found to have a rearrangement in COL4A5. No rearrangements were found in COL4A6, with the exception of a deletion encompassing the 5' ends of both COL4A5 and COL4A6 genes in a patient with Alport syndrome and leiomyomatosis. COL4A5 rearrangements were all intragenic and included 1 duplication and 7 deletions. Polymerase chain reaction (PCR) analysis was carried out to characterize deletion and duplication boundaries and to predict the resulting protein abnormality. The two smallest deletions involved a single exon (exons 17 and 40, respectively), while the largest ones spanned exons 1 to 36. The clinical phenotype of patients in whom a rearrangement in COL4A5 was detected was severe, with progression to end-stage renal failure in juvenile age and hypoacusis occurring in most cases. These data have some important implications in the diagnosis of patients with Alport syndrome.
American Journal of Medical Genetics 12/1995; 59(3):380-5.
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ABSTRACT: T-cell receptor TCR-beta gene expression is an early event during human ontogenesis since the majority of thymocytes express cytoplasmic beta chain as early as the 15th week of gestation, when a complete VDJ rearrangement and functional 1.3-kb beta gene transcript are detectable. We report here our contribution with those of others on the analysis of TCR-beta gene ontogenesis. By sequencing beta gene transcripts we have demonstrated that beta gene N-regions increase dramatically in the thymus after the 20th week and that the period between 20-30 weeks is of critical importance for the acquisition of N-diversity. A correlation between TdT and N-region expression also exists. An ordered expression of TdT and cytoplasmic beta chain occurs in humans starting around the 20th week, similar to the sequence of coordinated expression of TdT and cytoplasmic mu chains detectable in B-cell precursors. TCR-beta gene behavior in T-cell neoplasms, in 'biphenotypic' leukemias and in B-ALL is also discussed. An interesting study of seven cases of B-ALL with complete V(D)J beta gene rearrangement is analyzed, as is its implication for further analysis in B-cell leukemia.
Leukemia 07/1994; 8(6):918-23. · 9.56 Impact Factor
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European Journal of Cancer 02/1994; 30A(8):1207-8. · 5.54 Impact Factor
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ABSTRACT: T-cell receptor (TCR) beta-chain proteins appear early (approximately 15th week of gestation) during human thymic ontogenesis. These beta-chain proteins, which appear before terminal deoxynucleotidyl transferase (TdT), could be an expression of a fully rearranged (V-D-J), incompletely rearranged (D-J), or germline TCR beta-chain gene. The aims of this study, performed from the 15th week onward, were the following: (1) to investigate whether or not TCR beta gene rearranges at an early stage during human thymic ontogenesis; (2) to investigate whether complete presumptive functional (1.3 kb) TCR beta gene transcript is present at these early stages of development, or if incomplete (1 kb) or germ-line (1.1 kb) transcripts are expressed; (3) to examine the phenotype of TCR beta-chain+ cells with two-color fluorescence using monoclonal antibody (MoAb) beta F1 and MoAbs that recognize CD1, CD2, CD3, CD4, CD8, CD5, and CD7 antigens (rabbit anti-calf TdT antiserum was used to detect TdT); and (4) to demonstrate whether or not beta gene N-diversity regions are detectable as early as the 15th week and whether or not N-nucleotide insertions correlate to TdT expression. Fifteen- to 22-week fetal thymuses and pediatric thymuses were investigated. We demonstrated that TCR beta-chain gene rearranged as early as the 15th week in human thymus and that a complete functional TCR beta gene transcript was expressed at these early stages of human development. No other analyses to date have investigated TCR beta gene expression in early human thymus using molecular biology techniques. No significant differences were detectable between phenotypic analysis of fetal and pediatric samples, except for TdT expression, which appeared after the 20th week. Essentially all mCD3+ (OKT3+) cells were beta-chain+ at the different weeks investigated. A significant percentage of CD1+ cells were beta-chain+, and the percentage increased along with the age of development. After the 20th week, we identified three main populations: TdT+, cCD3+, beta F-(early thymic precursors); TdT+, CD1+, beta F1+ (intermediate maturity cortical thymocytes); and TdT-, mCD3+, beta F1++ (mature medullary thymocytes). Given these values, we may consider beta-chain expression an ordered process. beta gene N-nucleotide insertions were correlated to TdT expression, since N-regions increased considerably after the 20th week. A further increase of N-nucleotide insertions was detected from the 22nd week to the 32nd week.
Blood 04/1992; 79(6):1472-83. · 9.90 Impact Factor
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ABSTRACT: Chromosome abnormalities in infertile males are not infrequent, ranging from 4% to about 1% for sex and autosomal chromosomes respectively. Autosomal abnormalities mainly consist of balanced translocations, mostly robertsonian. The Authors report a case of reciprocal translocation t (4;15) associated with oligozoospermia and sterility in a 37 years-old man. The break-points involved in the translocation (4q25; 15p11) seem to be quite uncommon. The possible relationship between this unusual translocation and sterility is discussed.
Acta bio-medica: Atenei Parmensis 02/1990; 61(3-4):149-53.
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ABSTRACT: Eighty systemic lupus erythematosus (SLE) patients attending 3 clinical centers were evaluated immunologically and immunogenetically. No HLA class II antigens were found to be significantly associated with SLE in these patients. A highly significant (P = 6.17 x 10(-7) association was observed between anticardiolipin antibodies and DR7. A lesser association (P less than 0.025) was also observed between DR2 and/or DR3 and anti-Ro (SS-A) antibodies. No relationship was found between any DR antigen and anti-Sm/RNP, anti-double-stranded DNA, or anti-La (SS-B) antibodies.
Arthritis & Rheumatism 01/1989; 31(12):1568-70. · 7.87 Impact Factor
