摘要:

Thresholds for the perception of 6 primary odorants were tested in a sample of 153 unrelated healthy individuals including 101 males and 52 females. Using some special precautions and directions for preparing aqueous solutions of primary odorants, screening for specific anosmia was found to be a practicable method with reliable results. The observed perception thresholds showed a bimodal distribution. Individuals with higher values probably are specific anosmics. Relatively lower frequencies of anosmia observed in this sample, as compared to reported values in Caucasians of the USA, are probably due to genetic differences. The pheromone character of some odorants and their possible genetic relevance is discussed.

ISSN:0001-5652    

DOI:10.1159/000153591

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

Linkage analyses were performed in a single large family with multiple endocrine neoplasia, type 2 (MEN-2) between 23 classical genetic polymorphisms and MEN-2. We exclude close linkage of the locus for MEN-2 with ABO, ACPI, BF, ESD, Fy, GALT, GLO1, Jk, MNSs, P, PGM1, Rh and TF, as well as absolute linkage with GPT. These results raise to about 6% the proportion of the genome that has been excluded in this one family. Somewhat positive lod scores were obtained for GC (0.92 at Θ = 0), GPT (0.73 at Θ = 0.1) and HP (1.49 at Θ = 0.05); although not statistically significant, these findings suggest regions of the genome that warrant additional stu

ISSN:0001-5652    

DOI:10.1159/000153592

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

The genetic contribution to blood pressure variance is examined by studying a selected group of genes. Of 368 individuals, 48.1% received one-half or more of their genes from an African ancestor and of this group 18.1 and 17.0% exhibit systolic and diastolic hypertension, respectively. A chi-square test was used to examine the dependence of blood pressure on percentage African ancestry. The chi-square values were not significant for systolic or diastolic pressures. It is likely that other factors are strongly related to African admixture and these factors are the true modifiers of blood pressure.

ISSN:0001-5652    

DOI:10.1159/000153593

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

The distribution of phenotypes of αi-antitrypsin (Pi) in 909 unrelated Danes was determined by the use of separator isoelectric focusing in agarose gel. The frequencies calculated were: PiM1 = 0.728, PiM2 = 0.136, PiM3 = 0.082, PiZ = 0.023, PiS = 0.022, PiF = 0.006, Pivar = 0.003. The segregation of phenotypes in 39 families with 94 children is presented. The advantages and disadvantages of the method are discussed

ISSN:0001-5652    

DOI:10.1159/000153594

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

Glucose-6-phosphate dehydrogenase (G-6-PD) exhibits extensive heterogeneity in the Saudi population. The polymorphism of G-6-PD was investigated in different regions of Saudi Arabia, and G-6-PD variants were separated and identified on the basis of their electrophoretic mobility and activity towards glucose-6-phosphate. G-6-PD-B+ was found to be the most common phenotype, G-6-PD-A+ was found in each region but at a variable frequency ranging between 0.007 and 0.046. A second variant with normal activity but lower mobility than G-6-PD-B+ was identified among the Saudis at a frequency ranging from 0.000 to 0.028 in the different regions. In addition, a high frequency of variants with reduced activity was encountered in all regions. In males, a frequency of G-6-PD Mediterranean ranging from 0.046 to 0.261 was obtained, while G-6-PD-A* existed at a frequency ranging from 0.011 to 0.028. Furthermore, other variants with reduced activity but the same electrophoretic mobility as G-6-PD-B+ were detected at a high frequency among the Saudis.

ISSN:0001-5652    

DOI:10.1159/000153595

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

189 healthy controls and 175 patients suffering from malaria vivax have been investigated with regard to associations between this disease and 22 genetic polymorphisms of the blood (ABO, MN, Ss, Rh, Kell, P, Lutheran, Kidd, Duffy, Diego, Xg; ABH-Secretor; Hp, Gc, Gm, Km; aP, AK, PGM1 6-PGD, EsD; Hb variants) Significant associations could be demonstrated only for P and Hp systems, though in accordance with other investigations it cannot be excluded that the ABO system plays also a role in this connection.

ISSN:0001-5652    

DOI:10.1159/000153596

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

A 4-fold increase of red blood cell adenosine deaminase (ADA) activity was found in a patient without haemolytic anaemia, but with mild anisopoikilocytosis. High-performance liquid chromatography showed a 40% reduction of adenosine-5’-triphosphate (ATP) while all the other nucleotides were in normal ranges. The patient’s parents (first cousins) and a brother displayed the same enzyme activities as the controls. This observation suggests that mild increases of ADA activity is neither a marker for congenital hypoplastic anaemia as previously reported nor associated with haemolytic anae

ISSN:0001-5652    

DOI:10.1159/000153597

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

Genetic polymorphism of seven red cell enzymes was examined in two Canary Island populations and in an Iberian peninsula sample. The more isolated insular population shows a considerable gene frequency heterogeneity when compared with the peninsular sample but both are within the range of European populations. The presence of certain rare alleles normally associated with blacks suggests an African component in the Canarian populations.

ISSN:0001-5652    

DOI:10.1159/000153598

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

The frequencies of glucose-6-phosphate dehydrogenase (G-6-PD), pyruvate kinase (PK) and hexokinase (HK) deficiency were determined in different regions of Saudi Arabia. G-6-PD deficiency was found to range from 0.045 to 0.220 for the male and 0.020 to 0.125 for the female population. The highest frequencies were found to exist in the regions which are endemic to malarial parasite and have high frequencies of sickle cell and thalassaemia genes. Partial deficiencies of PK and HK were encountered in each region, however, no case of complete deficiency of these enzymes was identified. Further investigations are in progress to determine the clinical manifestations of enzyme deficiencies in the Saudi population.

ISSN:0001-5652    

DOI:10.1159/000153599

出版商:S. Karger AG    

年代:1986

数据来源: Karger

摘要:

909 individuals from different places of Italy were analyzed for the distribution of Gc subtypes. The observed heterogeneity in the distribution of the allele frequencies was found to be statistically significant. Comparing our results with those reported by other authors it is seen that within Italy a considerable regional variation in the frequencies of the Gc subtype alleles is present. However, there are no indications for any particular distribution patterns or gradients. In one of our samples (Bari district), one case of Gc 1S-1C3 was found.

ISSN:0001-5652    

DOI:10.1159/000153600

出版商:S. Karger AG    

年代:1986

数据来源: Karger