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Biomedical subjects

P Lucarelli

Publications and source records attributed to P Lucarelli.

At least 19 recordsLinked to original sources

DNA restriction fragment analysis of the somatostatin gene in familial isolated growth hormone deficiency type I.

The somatostatin (SST) gene was analyzed to detect possible molecular variations in subjects with familial isolated growth hormone deficiency type I (IGHD I). No gross alterations in restriction fragments were observed with 18 used enzymes. The association with two RFLPs closely linked to the SST gene was also negative, adding weight to the evidence that the SST gene is not involved in the etiology of IGHD I. The nucleotide variability of a 23-kb DNA segment containing the SST gene and its flanking sequences was studied by restriction analysis of a sample of 19 Italians. The data suggest that approximately 1 in 400 bp is variant in this region.

DNA Restriction Enzymes

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.

Alleles

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.

Alleles

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.

Base Sequence

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.

Gene Frequency

Relationship between human serum placental alkaline phosphatase and the ABo and Rh compatibility status in pregnancy.

458 unrelated healthy women at various gestational ages were examined for serum heat-stable alkaline phosphatase (HSALP) activity. The sample was subdivided into four groups according to the compatibility mating type in the ABO and Rh systems: double compatible, ABO incompatible, Rh incompatible and double incompatible. The results confirm the exponential growth of serum placental isoenzyme as a function of gestational age and show that the moment of appearance of the placental isoenzyme is six weeks earlier in double incompatible matings.

ABO Blood-Group System

Genetic polymorphisms and intrauterine development. Evidence of decreased heterozygosity in light-for-dates human newborn babies.

In 2 independent samples of low-birth-weight infants the proportion of females and homozygotes for a series of polymorphic systems was higher in light-for-dates than in preterm babies. The observation seems to give support to the hypothesis that homozygosity for 'normal' polymorphisms may decrease in general intrauterine growth rate. Since it is known that survival rate is strongly related to birth weight, a correlation between growth retardation and homozygosity may have a major role in the maintenance of such polimorphisms.

ABO Blood-Group System

Placental alkaline phosphatase: population studies in Sardinia and data on the anthropological value of this genetic marker.

The analysis of human placental alkaline phosphatase polymorphism in Sardinia has shown a further difference in the genetic structure of this population in comparison with the populations of Continental Italy and Western Europe. Ethnic and geographic variations in world distribution of placental alkaline phosphatase gene frequencies suggest the considerable anthropological value of this genetic marker.

Alkaline Phosphatase

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.

Acid Phosphatase

A study of nine polymorphic systems in the population of the Po Delta.

The present work reports a study of nine genetic polymorphic systems in the area of the Po Delta where malaria was endemic since the XIV century. Our data confirm some characteristics of this population already reported by other authors such as the high prevalence of thalassemia, the low prevalence of the rh (d) gene and the presence of G-6-PD deficiency. Among the other systems studied, i.e., AP, PGM1 ADA and AK, only AP frequencies of Po Delta population are significantly different from those of other continental Italian populations, the PC allele showing the lowest frequency so far observed.

Acid Phosphatase