R. Palmarino

Favism: Association with Erythrocyte Acid Phosphatase Phenotype

The frequency of carriers of the Paand Pc alleles of the gene for acid phosphatase in the erythrocyte is significantly higher in male subjects deficient in glucose-6-phosphate dehydrogenase and having hemolytic clinical favism than it is in the general population. This observation seems to indicate that alleles (Pa and Pc) of a gene polymorphic in all human populations affect the fitness of the involved phenotypes in special genotypic and nongenotypic conditions.

ACP1 and human adaptability 2. Association with season of conception

Abstract We have studied the pattern of association between the season of conception and cytosolic low molecular weight phosphotyrosine phosphatase (ACP1) genetic polymorphism in 329 consecutively newborn infants from the population of Penne and 361 consecutively newborn infants from the population of Rome. In addition, 329 mothers were studied in the population of Penne. A concordant, highly significant association was observed in the two populations between ACP1 parameters and the season of conception of newborn infants. The total activity of ACP1 shows a minimum in infants conceived in January–February and a maximum in those conceived at the end of the solar year. Analysis of the joint mother-newborn ACP1 distribution in relation to the season of fertilisation has shown that among mothers carrying ACP1*A (the allele showing the lowest activity), the proportion of newborns carrying this allele is higher in those conceived in the first months of the year than in those conceived subsequently. Since ACP1 probably functions as a phosphotyrosine phosphatase and as a flavin mononucleotide phosphatase, low activity could enhance the metabolic rate and would be advantageous in a cold environment. The cycle of variation of ACP1 in infants follows the cycle of solar illumination. It is possible that individuals who have a genetic background allowing them to adapt easily and readily to seasonal demand are more successful in reproducing themselves. The population of zygotes conceived in a given season would therefore reproduce the pattern of gene combination more fit for that season.

Genetic polymorphisms in juvenile-onset diabetes.

Nine genetic polymorphic systems (ACP1, PGM1, ADA, AK, G-6-PD, Hp, ABO, Rh, MN), were studied in a series of 138 subjects affected by JOD. Differences between diabetic patients and controls were observed in the distribution of phenotypes of the red cell acid phosphatase (ACP1), and the ABO and MN blood groups.

PGM1 and TF subtypes and C3 polymorphisms in Continental Italy and Sardinia. Data on the world distribution of these genetic markers

PGM1, TF and C3 polymorphisms have been examined in two Italian samples, collected in continental Italy and in Sardinia (Cagliari). The PGM1 and TF subtypes were determined by isoelectric focusing while the C3 was studied by conventional methods. A significant difference in the gene frequencies of PGM1 and TF systems between our two samples has been observed. In addition, data on the world distribution of PGM1, TF and C3 polymorphisms have been presented.

POLYMORPHISM OF S-ADENOSYLHOMOCYSTEINE HYDROLASE IN ITALY

S-adenosylhomocysteine hydrolase (SAHH) polymorphism has been investigated in the Italian population. Three common alleles, SAHH*1, SAHH*2 and SAHH*3, have been observed and the estimated gene frequencies are 0.968, 0.023 and 0.009, respectively. SAHH activity has been assayed in 50 healthy individuals and the mean activity was 0.043 +/- 0.017 mumol uric acid/min/g Hb at 37 degrees C. Five heterozygotes for adenosine deaminase deficiency and three heterozygotes for purine nucleoside phosphorylase deficiency showed SAHH within the range of the normal distribution. The effects of some thiol reagents on red blood cell SAHH electrophoretic pattern have been investigated.

Sex Ratio in Man: an Analysis of the Relationships with ABO Blood Groups and Placental Alkaline Phosphatase Phenotype

Secondary sex ratio (SR) in man is influenced by various genetic and environmental factors. It has been observed that SR in subjects of blood group B compatible with their mothers is higher than in other subjects. The analysis of 676 newborns of the Rome population and 1,684 newborns of the New Haven (Connecticut) population have confirmed a higher SR in B group subjects compatible with their mothers. The data also indicate that placental alkaline phosphatase is another genetic factor influencing SR in man and that there is a strong interaction among ABO phenotype, fetomaternal ABO compatible status and PAP phenotype concerning their effects on SR.

Human Placental Glucose Dehydrogenase: IEF Polymorphism in Two Italian Populations and Enzyme Activity in the Six Common Phenotypes

Glucose dehydrogenase (hexose-6-phosphate dehydrogenase) has been assayed qualitatively and quantitatively in more than 600 human placentae collected in two Italian populations. The gene frequencies for GDH1, GDH2 and GDH3 were, respectively, 0.66, 0.21 and 0.12 in Continental Italy and 0.65, 0.23 and 0.12 in Sardinia. Among the six common phenotypes there was no difference in catalytic activity.

Restriction Fragment Length Polymorphism of the D5S4 Locus in Italy

Five Italian samples were examined for an EcoRI restriction fragment length polymorphism associated with a DNA sequence of unknown function, located on chromosome 5. No significant difference was observed between the samples. The allele frequencies in Italy were D5S4ES = 0.697, D5S4EF = 0.303.

Restriction Fragment Length Polymorphism of the D1S1 Locus in Italy

Three Italian populations were examined for a restriction fragment length polymorphism probing with a DNA sequence of unknown function located on chromosome 1. No difference was observed between the samples. The allele frequencies in Italy were: D1S1 BS = 0.82, D1S1 BF = 0.18.

Genetic Variations of Insulin-Like Growth Factor I in Italy

Four Italian populations were examined for a HindIII RFLP associated with the human insulin-like growth factor I gene. No differences were observed among the four samples. The allele frequencies in Italy were: IGF-I HF = 0.834; IGF-I HS = 0.166. The polymorphism appears to be due to a 400-bp sequence insertion-deletion mechanism.