Human histocompatibility (HLA) gene frequencies were studied in the Italian population. A random sample of healthy individuals born in several Italian regions and provinces was studied to estimate HLA-A, -B, -C and -DR gene frequencies using the maximum likelihood method. The goodness of fit to Hardy-Weinberg proportions was evaluated by the likelihood ratio statistics. Different Italian regions and provinces show significant differences in the HLA alleles, providing further evidence for the genetic heterogeneity in the Italian population. This heterogeneity is also displayed by a synthetic geographical representation which uses colour to map the most informative gene differences. Statistically significant gametic associations between HLA-A, -B, -C and -DR loci are reported. The difference between northern and southern Italy and between continental Italy and Sardegna is clearly shown also by their heterogeneous linkage disequilibria.

Alleles↗

PubMedDate not supplied

The distribution of some polymorphisms in Italy.

A wide data collection on blood group gene frequencies in Italian regions and provinces is presented. This report is the result of a joint collaboration of human geneticists and forensic haematologists started in 1979 and updates a previous work by the same group. The following genetic polymorphisms have been examined: red-cell antigens (ABO, FY, Kell, Kidd, Lewis, Lutheran, MNSs, P, Rhesus), red-cell enzymes (ACP1, ADA, AK1, ESD, GLO1, GPT, PGD, PGM1), plasma proteins (BF, C3, GC, HP, IGK, PI, TF). Data have been classified according to genetic systems, Italian regions and provinces. Gene frequencies were estimated by the maximum likelihood method. The goodness of fit to Hardy-Weinberg proportions has been evaluated by the likelihood ratio statistics. Genetic heterogeneity of provinces and regions is reported.

Blood Group Antigens↗

PubMedDate not supplied

Bone marrow transplantation for leukemia in Genova.

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Adolescent↗

PubMedDate not supplied

Impaired fibrinolytic response to increased thrombin activation in type 1 diabetes mellitus: effects of the glycosaminoglycan sulodexide.

Data on fibrinolysis in diabetes mellitus are still unclear, as is the role of hyperglycaemia on this topic and the possibility of any therapeutic intervention. In this study we examined fibrinopeptide A, tissue plasminogen activator and plasminogen activator inhibitor plasma levels in Type 1 diabetic patients compared to matched healthy normal controls, and the effect of induced hyperglycaemia on these parameters. At the same time the effect of a glycosaminoglycan, Sulodexide, administration during hyperglycaemia was evaluated. Fibrinopeptide A and plasminogen activator inhibitor were increased while tissue plasminogen activator was decreased in Type 1 diabetic patients, in the basal state. Induced hyperglycaemia increases fibrinopeptide A formation and tissue plasminogen activator concentrations, while it decreases plasminogen activator inhibitor levels more in normal subjects than in diabetic patients. Sulodexide consistently reduces this phenomenon. This study shows an altered fibrinolytic response to increased thrombin activation in Type 1 diabetic patients and suggests that the administration of the glycosaminoglycan, Sulodexide, may help to reduce this phenomenon.

Adult↗