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R M Corbo

Publications and source records attributed to R M Corbo.

12 recordsLinked to original sources
PubMed1992

Kinetic properties of the common electrophoretic variants of human S-adenosylhomocysteine hydrolase (AHCY): the effect of four nucleoside analogue inhibitors.

Red blood cell S-adenosylhomocysteine hydrolase (AHCY) from individuals of 1, 2-1 and 3-1 phenotypes was partially purified and Km and Vmax determined in the absence and in the presence of the following inhibitors: 3-deaza-adenosine (DZA), 3-deaza-aristeromycin (DZAry), 2-chloro adenosine (2-Cl-ado) and purine riboside (or nebularine). The three phenotypes 1, 2-1, 3-1 showed similar Km (32.58, 39.22 and 34.84 microM respectively), but the ratio Km/Vmax was statistically different. DZA and DZAry appeared to be strong competitive inhibitors. The AHCY 1 phenotype was more resistant to their action, while the 3-1 variant was more sensitive. 2-Cl-ado and purine riboside were weaker inhibitors; the type of inhibition varied among the three phenotypes, but, again, the AHCY 1 phenotype was less sensitive than the other two.

2-Chloroadenosine↗
PubMed1992

Distribution of ORM1, C6, C7 and APO C-II allele frequencies in populations from mainland Italy and Sardinia.

The genetic variation of the human plasma proteins ORM1, C6, C7 and APO C-II was investigated by isoelectric focusing followed by immunoblotting in populations from mainland Italy and Sardinia. The frequencies of ORM1*1 were 0.621 and 0.564, while those of C6*A were 0.657 and 0.706 on mainland Italy and in Sardinia, respectively. In the Roman sample, 8 heterozygotes with C6 variant alleles were encountered, while none were observed in Sardinians. For C7 and APO C-II a number of heterozygotes with the rare alleles C7*2 and APO C-II*2 were found, but their frequency did not reach polymorphic levels in either population. The two populations showed a significant difference in the gene frequencies distribution for ORM1.

Alleles↗
PubMed1991

Genetic polymorphisms of the A and B subunits of human coagulation factor XIII in mainland Italy and Sardinia: description of a new FXIIIA variant allele.

The distribution of the two alleles of FXIIIA and the three alleles of FXIIIB were studied in populations from mainland Italy and from Sardinia. The frequencies of the FXIIIA*2 allele were 0.266 and 0.265. The frequencies of FXIIIB*1 were 0.787 and 0.765; of B*2, 0.070 and 0.094; of B*3, 0.143 and 0.141. A new cathodal FXIIIA allele (A*7) was described in the Rome sample. No significant difference in the distribution of allele frequencies for either system was found between the two populations studied. For typing both markers, good results were also obtained by using whole blood instead of plasma.

Alleles↗
PubMed1991

Human placental 17 beta-estradiol dehydrogenase: enzymatic activity in the last weeks of pregnancy and electrophoretic data.

A specific electrophoretic method for human placental 17 beta-estradiol dehydrogenase (17-HSD; EC 1.1.1.62) has been performed and a sample of about 180 placentae from Italian women has been examined. A common phenotype and only one electrophoretic variant have been observed. Also 17-HSD activity has been tested. A statistically significant negative correlation has been found between 17-HSD activity and both gestational age and birth weight in the last weeks of gestation in a group of at term newborns with weight appropriate for date. This reduction in enzymatic activity is in good agreement with the data on estrone and estradiol which both show a declining rate of increase in the last weeks of pregnancy.

Birth Weight↗
PubMed1991

A survey of six genetic markers on the populations of Punjab and Rajasthan (India).

190 Punjabis (Hindus and Sikhs) of Chandigarh and 152 Hindus of Jodhpur (Rajasthan) were examined for six genetic markers, four of which (APO C-II, C6, C7 and FXIIIA) were not studied before in Asiatic Indians. For APO C-II and C7 only the common phenotype was found in a total of 229 and 99 subjects, respectively. For the remaining four markers the two samples were pooled since the gene frequency estimates were not significantly different: FXIIIA*2 = 0.205 +/- 0.016; C6*B = 0.366 +/- 0.037; PGM1*2 = 0.247 +/- 0.017; PGD*C = 0.041 +/- 0.008. These data may contribute to evaluate the extent of the Mongoloid genetic admixture into the Caucasoid gene pool of the Punjab and Rajasthan Hindu population.

Apolipoprotein C-II↗
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↗
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↗
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↗