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L Perroni

Publications and source records attributed to L Perroni.

At least 37 records · Page 2Linked to original sources
PubMed1988

Lack of evidence for association of meiotic nondisjunction with particular DNA haplotypes on chromosome 21.

The hypothesis of a predisposition to meiotic nondisjunction for chromosome 21 carrying a specific molecular haplotype has been tested. The haplotype in question is defined by the restriction fragment length polymorphisms for the D21S1/D21S11 loci. Our results obtained on a sample of Northern Italian families with the occurrence of trisomy 21 (Down syndrome) failed to support this hypothesis, contradicting a previous study [Antonarakis, S. E., Kittur, S. D., Metaxotou, C., Watkins, P. C. & Patel, A. S. (1985) Proc. Natl. Acad. Sci. USA 82, 3360-3364]. These findings rule out an association between any specific D21S1/D21S11 haplotype (as well as other haplotypes for the D21S13, ETS2, and D21S23 loci) and a putative cis-acting genetic element favoring the meiotic missegregation of chromosome 21. For this reason, no preventive screening for couples at risk for trisomy 21 may be based on any of the haplotypes tested.

Adult↗
PubMed1988

Erythrocyte pyruvate kinase deficiency: 11 new cases.

Eleven new cases of red cell pyruvate kinase (PK) deficiency with congenital haemolytic disease from 10 unrelated Italian families were characterized using the methods recommended by the International Committee for Standardization in Haematology (ICSH). All patients were double heterozygotes for the PK gene. The 10 variants were designated PK 'Lecce,' 'Parma,' 'Verona,' 'Milano,' 'Soresina,' 'Macerata,' 'Sassari,' 'Genova,' 'Mantova' and 'Brescia.' PK 'Sassari' was associated with glucose-6-phosphate dehydrogenase deficiency in two siblings. All mutants displayed multiple biochemical abnormalities except for PK 'Lecce' that only showed decreased red cell PK activity. No relation was found between the severity of anaemia and either the residual PK activity or specific biochemical enzyme abnormalities. Increased serum ferritin levels were detected in most of the patients, suggesting the need for systematically monitoring iron status in this disease.

Adolescent↗
PubMed1988

An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence.

The genetic polymorphism of an approximately 100-kb DNA region comprising and flanking the glucose-6-phosphate dehydrogenase (G6PD) gene on human chromosome Xq28 has been analyzed in detail. By using 14 unique sequence probes and 18 restriction enzymes, we have characterized 257 restriction fragments or 370 restriction sites. On testing 12-57 individual X chromosomes, all sites but one were nonpolymorphic. However, a PstI site that maps to exon 10 of the G6PD gene, which is still monomorphic in all British and Italian subjects tested, is polymorphic in west-African people. Specifically, it is absent from 22% of Nigerian X chromosomes. By sequence analysis we have shown that the absence of this PstI site results from a G----A replacement at position 1116, corresponding to the third base of a glutamine codon; no amino acid change is produced in the protein. Thus, a polymorphic silent mutation is demonstrated in a human gene.

DNA Restriction Enzymes↗
PubMed1983

Hepatitis B in two Italian General Hospitals.

A study to evaluate the extent of Hepatitis B among Hospital Staff in two hospitals in central Italy, blood tested 1212 individuals (80.2% of the staff). 33.7% of staff tested was positive to at least 1 marker of prior B hepatitis infection. The study confirms that B hepatitis is an occupational hazard for those exposed to blood. Specific risks in terms of odds ratios are estimated to be about 2.0 for professional nurse compared to other nursing categories, about 1.7 for staff in high risk departments compared to low risk departments and about 5.0 for professional nurses in high risk departments compared to clerks or nurses aides in low risk departments. The computation of attributable risk indicates that working in a hospital contributes only a minor fraction of the total national burden of this disease. However, immunization of hospital workers in Italy can prevent every year as many as 6,500 new Hepatitis B infections in this high risk group.

Adult↗
PubMed1981

New genetic variants of glucose 6-phosphate dehydrogenase (G6PD) in Italy.

Six new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.

Adolescent↗
PubMed1980

The first stable variant of erythrocyte glucose-phosphate isomerase associated with severe hemolytic anemia.

A new variant of glucosephosphate isomerase (GPI) associated with hemolytic anemia, mental retardation, and muscular hypotonia is described. The defective enzyme showed increased affinity for fructose-6-phosphate (F-6-P), decreased affinity for glucose-6-phosphate (G-6-P) altered electrophoretic and isoelectrofocusing patterns, and shift to the left of the precipitin curve. The enzyme was stable under all the conditions tested (heat, urea, guanidine-HCl, and storage). Optimum pH, Ki for 6-phosphogluconic acid (6-PGA) and for erythrose-4-phosphate (E-4-P), molecular weight, GPI-related antigen concentration, immunodiffusion pattern, and immunoinactivation were in the normal range. This is the first example of the association of a stable mutant GPI with severe hemolytic anemia. Enzyme instability has been present in all previously reported cases.

Anemia, Hemolytic, Congenital↗
PubMed1980

Acidified glycerol lysis test: a screening test for spherocytosis.

Acidified glycerol lysis test (AGLT) is a screening procedure which has been developed for spherocytosis. AGLT was found positive in 100% of 48 patients suffering from hereditary spherocytosis, 100% of nine couples of affected parents, and 86% of 14 couples of clinically healthy parents. The test was positive in acquired spherocytosis and negative in normal controls. AGLT appears to have a predictive value higher than the entire battery of conventional tests. It is simple, rapid, inexpensive, gives clear-cut results and requires minute amounts of blood. It can be performed on blood stored for up to 24 h.

Adult↗
PubMed1975

Glucose-6-phosphate dehydrogenase variants from Italian subjects associated with severe neonatal jaundice.

Screening for the G6PD deficiency was carried out at the Maternity Division of the Galliera Hospital in Genoa, Italy. Two groups of subjects with hyperbilirubinaemia of non-immunological origin were examined: (a) 302 newborn babies of Sardinian extraction (on cord blood) and (b) 201 newborn babies of south Italian ancestry (on peripheral blood). Among 503 subjects, 43 showed an enzyme deficiency; in 39 the defect was of the Mediterranean type. In one case, previously described, the enzyme was of the A- type. In the remaining cases three different variants were identified. In the present work these three cases, each with severe neonatal jaundice, are reported. Their parents originated from Calabria, from Sardinia and from Sicily. The abnormal enzymes are respectively designated as GdDcbrousse-like,, GdGallura and GdAgrigento.

Electrophoresis, Starch Gel↗