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R Palmarino

Publications and source records attributed to R Palmarino.

18 recordsLinked to original sources
PubMed1992

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↗
PubMed1990

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↗
PubMed1988

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↗
PubMed1988

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↗
PubMed1987

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.

Adenosine Deaminase↗
PubMed1979

C'3 polymorphism in Italy.

C'3 phenotype and gene frequencies observed in two Italian samples are reported. The allele frequencies resemble those reported for other Caucasian populations. Five different rare variants are described.

Complement C3↗
PubMed1979

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↗
PubMed1979

Sex ratio in man: an analysis of the relationship 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.

ABO Blood-Group System↗
PubMed1978

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↗
PubMed1977

Linkage disequilibrium for two X-linked genes in Sardinia and its bearing on the statistical mapping of the human X chromosome.

The distribution of four X-linked mutants (G6PD, Deutan, Protan and Xg) among lowland and once highly malarial populations of Sardinia discloses a clear-cut example of linkage disequiligrium between two of them (G6PD and Protan). In the same populations the distribution of G6PD-deficiency versus colorblindness of the Deutan type and the Xg blood-group is not significantly different from that expected at equilibrium. These data suggest indirectly that the loci for G6PD and Protan may be nearer to one another than those for G6PD and Deutan.

Blood Group Antigens↗
PubMed1976

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↗
PubMed1975

Genetic differentiation among Sardinian villages.

The present study reports an analysis of genetic differentiation among 14 Sardinian villages located mainly in the center of the island. Chi-square tests show significant genetic heterogeneity among villages, and analyses by F- and R- statistics indicate an essentially random pattern of differentiation for all alleles. Using the kinship methods of Morton, a matrix, R, with elements rij describing the correlations between the gene frequencies of villages i and j is obtained. Use of Malécot's formula relating the rij to the geographic distances between villages shows a rapid decline of kinship with increasing distance but reveals essentially no relationship for distances over 40 km. Rotation of a two-dimensional reduction of the kinship matrix to maximum congruence with the geographic distances indicates that about 25% of the genetic distances can be accounted for by the geographic location of the villages. Isolation due in part to cultural factors, genetic drift, and special local or regional patterns of villages associations appear to be involved in the pattern of genetic variation.

Adolescent↗
PubMed1975

Red cell acid phosphatase: another polymorphism correlated with Malaria?

The frequency of PC allele for acid phosphatase in fourteen Sardinian villages correlates positively with the altitude and negatively with past malarial morbidity and GdMed prevalence. The susceptibility towards hemolytic favism in Sardinian males with G6PD deficiency is dependent on the erythrocyte acid phosphatase and thalassemia phenotypes. Thalassemia trait exerts a protective action only in subjects carrying PA allele for acid phosphatase. The data suggest that the gradient for malaria morbidity directly or indirectly, through interactions with thalassemia and G6PD polymorphisms, mediated by the habit of eating Vecia faba, may have had a significant role in determining the heterogeneous distribution of acid phosphatase polymorphism in Sardinia. Besides malaria, other environmental factors related with altitude seem to have been very important in shaping the present pattern of distribution of both acid phosphatase and G6PD polymorphisms in Sardinia.

Acid Phosphatase↗