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Biomedical subjects

V L Pascali

Publications and source records attributed to V L Pascali.

39 records · Page 3Linked to original sources

Antitrypsin and Gc polymorphisms in some populations of Congo: an unusual, highly frequent mutant, PIS, in Bateke and Babenga.

Four population samples from Congo (Beti and Bateke from Cuvette area, Bateke and Babenga from 'Pool' area) were typed for the electrophoretic mutants of protease inhibitor (PI) and group-specific component (Gc), as part of a general survey on the genetic structure of these ethnic groups. An unusual PI mutant (tentatively called PIS*) had a singularly high frequency in the Bateke and the Babenga. Data shown here will help in ascertaining whether genetic differentiation could exist in Congolese populations.

Black People↗

Carbohydrate-deficient transferrin determination revisited with capillary electrophoresis: a new biochemical marker of chronic alcohol abuse.

To aid in the objective diagnosis of chronic alcohol abuse in both clinical and medico-legal environments, reliable biochemical markers are needed. In addition to the conventional indicators, which include y-glutamyl transferase, erythrocyte mean corpuscular volume, aspartate aminotransferase, and alanine aminotransferase, carbohydrate-deficient transferrin (CDT) has recently been introduced. According to a reliable body of literature, CDT is the most reliable marker of chronic excessive alcohol intake. CDT is the collective name for minor isoforms of human transferrin, and therefore highly selective and sensitive methods are required for its analysis in serum. Moreover, the need for precise quantification poses additional problems of accuracy and precision. For these purposes, capillary electrophoresis shows excellent potential in terms of quantitative accuracy, precision, speed, automation, economy, and simplicity of operation. The simple, optimized capillary zone electrophoretic analysis of CDT in human serum is discussed in this paper and is compared to the traditional analytical method based on microcolumn ion exchange chromatography followed by immunoassay.

Alcoholism↗

Y-chromosome STR loci in Sardinia and continental Italy reveal islander-specific haplotypes.

Six Y-linked tetranucleotide microsatellites were typed in a sample of continental Italians and Sardinians. Significant differences in allele distributions were found between peninsular Italy and the island. Patterns of distinct allelic associations were evident in Sardinia and in the mainland. STR haplotypes in a subset of Sardinian chromosomes were monophyletically related and indicated that additions/deletions of a single tetranucleotide unit had to sequentially occur within a historical time-scale (about 9,000 years). Assumptions on both the time elapsed since the peopling of the island and the number of mutational events led us to estimate (by three different methods) a rate of 2.7-11 x 10(-4) mutations per generation per locus--at the upper end of the range of values reported in the literature.

Gene Frequency↗