Biomedical subjects
Publications and source records attributed to P Lucarelli.
Human placental soluble aconitase (ACONs) polymorphism was studied in two samples from continental Italy and Sardinia. The ACONs3 allele was found with a frequency of 0.01 in the Sardinian sample.
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.
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.
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Wheezing in children is characterized by at least two major syndromes: "wheezing associated with respiratory infections" and "atopic asthma." The distinction between these two forms is not easy as similarities exist between them. The purpose of this study was to try to differentiate between them. We determined the phenotype of adenosine deaminase (ADA) in 291 children ages 1 mo to 15 yr who had been affected by attacks of wheezing recently requiring clinical attention. The results demonstrated that the frequency of 2-1 ADA phenotype was significantly reduced in wheezers compared to control subjects. Among wheezers, the 2-1 ADA phenotype was normally represented under 5 yr of age but was particularly rare among asthmatic children 5 to 15 yr old. Thus ADA phenotypes may represent a genetic basis for some of the heterogeneity of the asthma syndromes in children.
A discriminant analysis was performed on a set of maternal and neonatal variables to predict at birth the serum bilirubin levels during the neonatal period in infants incompatible with their mothers in the ABO system. The results suggest that the rational and simultaneous utilization of clinical and laboratory parameters allows, a few hours after delivery, a useful classification of these infants in low or high risk for hyperbilirubinemia.
Human phosphoglucomutase activity has been determined in red blood cells obtained from 348 unrelated subjects. The mean activities attributed to the four common PGM1 alleles, expressed as micromoles of G6P produced per gram of Hb per hour were 53 for PGMa31, 60 for PGMa11, 61 for PGMa41 and 72 for PGMa21. The relative amount of variation associated with the electrophoretic polymorphism was estimated as 24%.
Human placental alkaline phosphatase (ALP) activity has been determined in specimens obtained from 562 Italian subjects. The mean activities of the three common homozygotes (Pl 2 = 4.70 +/- 0.24, Pl 1 = 4.09 +/- 0.08, and Pl 3 = 2.15 +/- 0.71 mumol of p-nitrophenol produced) were significantly different. The differences among the various allelic forms account for 10% of the total quantitative variation of the human placental alkaline phosphatase.
It is well known that subjects homozygous for a rare silent allele of ADA may experience a severe combined immunodeficiency. By analogy we have investigated the possible relationship of normal ADA polymorphism with some situations, such as reproductive defects and fetomaternal interactions, in which immunological mechanisms may play an important role. A total of 572 consecutive newborns, 93 consecutive low birthweight infants, 46 couples with unexplained habitual abortion, and 24 couples with unexplained sterility were studied. The proportion of ADA 2-1 phenotype was reduced in couples with reproductive defects. In the sample of consecutive newborns the proportion of ABO incompatible babies was higher among ADA 2-1 than among ADA 1 types. ADA 2-1 phenotype was also associated with a reduction in the variability of gestational length. These associations were much more marked among male than among female babies. The proportion of ADA 2-1 was significantly lower in low birthweight infants than in the consecutively studied infants and normal adults. The present data suggest that biochemical variability resulting from the normal ADA polymorphism may be, at least in part, responsible for the variability of some immunological functions and related physiological variables and pathological conditions. They also provide evidence in favour of a selective advantage of ADA heterozygotes.
A random sample of more than 500 subjects collected in the district of l'Aquila (Italy) has been studied for the following genetic markers: ADA, EsD, G-6-PD, 6-PGD, SOD-A, Hp, C3. The gene frequencies of all the systems examined were similar to those observed in Rome. Rare variants have been found for 6-PGD, C3 and SOD-A. The last one showed an electrophoretic pattern different from the only other variant so far observed in the Italian population.
The C3 phenotypes were examined in 391 pregnant women classified according to the level of 'immune', 'natural' and 'irregular' antibody titres. No significant association between the C3 types and antibody levels was found. The sera were also typed for C3 with a non-barbital buffer.
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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.
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.
A brief genetic report is given on a family with a child affected by nucleoside phosphorylase deficiency. Our observations confirm the genetic heterogeneity of this enzyme deficiency which is inherited as a mendelian autosomal trait.
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