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Biomedical subjects

C Brancati

Publications and source records attributed to C Brancati.

At least 55 records · Page 3Linked to original sources
PubMed1984

Immunochemistry of an allotypic low density lipoprotein in man.

This paper presents data on a human allotypic polymorphism carried on a low density lipoprotein (As-LDL). The As polymorphism was investigated by a rabbit antiserum which was firstly used to analyze the serum level and the isoelectric point of the As lipoprotein in sera of different phenotype. This antiserum was also used to purify As-LDL by immunochromatography. Afterwards the peptidic maps of the APO proteins from different As-LDL were compared. While no correlation did result between the serum level and the serological phenotype of the As lipoprotein, the peptidic distribution of the APO parts from different As-LDL showed differences correlated to the allotypic phenotype.

Animals↗
PubMed1983

Delta thalassemia: a non-deletion defect.

Hematological and gene mapping studies of two Southern Italian children doubly heterozygous for delta 0-thalassemia and delta 0 beta 0-thalassemia have been carried out. No HbA2 was detectable by electrophoresis of total hemoglobin in these patients. Restriction enzyme analysis of the globin gene cluster with delta, gamma, epsilon and RIH cloned probes showed all the expected normal bands, in addition to the abnormal fragments related to a previously described type of delta 0 beta 0-thalassemic deletion, demonstrating an apparently intact globin gene cluster on the thalassemic chromosome. The relevance of this finding to models for coordinated expression of non alpha globin genes is discussed.

Adult↗
PubMed1983

Allotypic phenotypes displaying different frequencies in healthy and beta-thalassemic sample populations.

This paper presents data on the identification of an allotypic polymorphism carried on a beta-lipoprotein in human serum. The antigen, whose inheritance is investigated in 78 families, is coded by a polymorphic locus (As) existing in 4 allelic states. The products of these alleles exhibit a serological linear subtyping pattern with respect to the alloantisera recognizing the allotypes. The allelic frequencies prove different in healthy (beta beta) and thalassemic (beta beta thal) sample populations, thus suggesting linkage dysequilibrium between the recessive alleles of the As and beta loci.

Alleles↗
PubMed1983

Delta +-thalassemia in Sardinia.

We have defined a new type of delta-thalassemia in which beta-globin chain synthesis is incompletely suppressed. Homozygotes have unusually low HbA2 levels, and double heterozygosity for this delta-thalassemia gene and beta-thalassemia normalizes the HbA2 level. The delta-thalassemia occurs on a chromosome that is identifiable using polymorphic restriction endonuclease sites. We call this condition delta +-thalassemia, to distinguish it from the previously described delta 0-thalassemia syndromes in which no delta-globin chain synthesis occurs.

Chromosome Mapping↗
PubMed1979

Studies on a family with Hb J Calabria (alpha 2 beta 2 64 (E8) Gly replaced by Asp).

Hb J Calabria is a fast moving hemoglobin variant which was found in an Italian family by Vecchio et al (1), and in a French family by Blouquit et al. who studied its functional properties (2). The original family described by Vecchio et al. in which both Hb J Calabria and beta-thalassemia were present has been reexamined and is the subject of the present study. Hematological and clinical features of the carriers are described. The heterozygous carriers of Hb J Calabria showed only mild variable subclinical anemia and levels of the abnormal hemoglobin ranging from about 33 to 42%. The Hb J Calabria/beta-thalassemia double heterozygote showed a moderate chronic hemolytic anemia with alterations of the RBC indices and morphology in addition to splenomegaly. The relationship between structural abnormality, functional properties and clinical expression of Hb J Calabria is discussed.

Aged↗
PubMedDate not supplied

Correlation of IgA2 serum levels in parent-offspring pairs.

IgA2 serum levels were measured by ELISA in 120 healthy subjects from 40 nuclear families (both parents and one offspring). No sex-associated difference was observed. Moreover, the IgA2 serum levels proved to be significantly correlated in parent-offspring pairs (r = 0.55; P less than 0.001), while there was no significant correlation in mother-father pairs of the same family. The data suggest that the serum level of the IgA2 subclass is genetically controlled.

Adolescent↗
PubMedDate not supplied

Post-translational polymorphism of human IgA identified by immunoisoelectrofocusing.

Immunoisoelectrofocusing (IIEF) reveals a microheterogeneity of human serum IgA controlled by an autosomal polymorphic gene, termed S. The microheterogeneity disappears when sialic acid is removed from serum glycoproteins by neuraminidase treatment. It can be postulated, therefore, that S encodes a sialyltransferase which attaches sialic acid at the outer prosthetic chains of IgA.

Humans↗
PubMedDate not supplied

A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene.

Spinocerebellar ataxia type 1 is caused by the expansion of a CAG trinucleotide repeat, located at the 5' end of the gene responsible for the disease (SCA1 gene). We propose a simple and rapid method for SCA1 diagnosis, avoiding both radioactive and Southern blotting analysis. The method allows an accurate allele sizing by visualization of polymerase chain reaction products through a silver nitrate-stained polyacrylamide gel.

DNA Restriction Enzymes↗