摘要:

Erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity and electrophoresis were investigated among 154 Indians living in a region hyperendemic for malaria at Alto Xingu, Mato Grosso, Brazil. No enzyme-deficient individual was found, and all subjects belonged to enzyme type B. No statistical difference in G-6-PD levels was found between tribes and sexes. The average of G-6-PD activity of the Indians was significantly higher than the normal mean values found by the same technique in Caucasians, Negroes and Japanese of São Paulo, Brazil. The high rates of G-6-PD activity of the Indians are not correlated to an increased reticulocytosis by hypochromic anaemia and appear to be typical of Indian or Indian-mixed populations. Resistance to malaria in those populations should not involve erythrocyte G-6-PD deficiency. It is suggested that the apparent association between G-6-PD deficiency and resistance to malaria found in other populations could be a statistical accident determined by the racial correlation between the incidence of G-6-PD deficiency and sickle-cell or thalassaemic haemoglobins among Negro and Mediterranean populations

ISSN:0001-5652    

DOI:10.1159/000152810

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Blood samples from 109 Siriono (Eastern Bolivia) belonging to the Tupi-Guarani group were investigated for enzyme variants in the following systems: glucose-6-phosphate dehydrogenase, phosphogluconate dehydrogenase, adenylate kinase, phosphoglucomutase (locus 1 and 2), acid phosphatases, lactate dehydrogenase, NADH diaphorase, pseudocholinesterase (E1 and E2 locus), and serum alkaline phosphatase. The most relevant observations are: (1) A relative lack of polymorphism, a characteristic feature of the Amerindian populations studied up to now. These data are consistent with the hypothesis of a ‘common ancestral background’ in Indian populations whatever the degree of socio-cultural and linguistic diversity, and the geographical distances. (2) Specific traits due to the frequency of alleles in some systems confer to that tribe a particular position among Amerindians. The effects of genetic drift may be postulated in order to explain the high rate of PGM and 6PGD polymorphism. Furthermore, in that small community, the disappearance of some alleles (pa gene) can plausibly be explained in terms of a balanced influence of mutational and selective press

ISSN:0001-5652    

DOI:10.1159/000152811

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Under the same conditions which yield 1 +4Neµ as the effective number of neutral alleles maintained by fresh mutation at a rate µ at an autosomal locus in a population of size Ne, the corresponding number at an X-linked locus is 1 + 3Neµ. The resultant bimodal frequency distribution for the effective number of alleles does not seem to have been used as the basis for analysis of data on actual numbers of alleles in natural populatio

ISSN:0001-5652    

DOI:10.1159/000152812

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Linkage analysis of Kell:PTC loci demonstrates close linkage, θ = 0.045 with a lod score of 10.78. The results, which include the Sutter blood group, support the hypothesis that Sutter is a part of the Kell system.

ISSN:0001-5652    

DOI:10.1159/000152813

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

A Danish family consisting of 80 persons, 72 between the ages of 3 and 70 years, was examined for the presence of primary hyperlipoproteinaemia (HLP), resulting in the finding of types II A (8 cases), II B (4 cases), III (2 cases), IV (5 cases), and V (2 cases). The pedigree of the family is presented together with lipid data and HLP type. Five cases of the so-called ‘sinking pre-beta midband’, which can often be correlated to ischaemic heart disease, have been found using polyacrylamide gel electrophoresis (PGE); two of these subjects had arteriosclerotic disease, one had uratic arthritis, while the other two were normal. A comparative evaluation of the results of electrophoresis should be considered of greater importance when studying families, rather than individual persons, inasmuch as intra-familial lipid patterns appear to occur with a positive correlation to at least serum cholesterol. Continued observation will probably reveal a lipid abnormality characteristic for the family even though according to the reference material available it must be considered as nor

ISSN:0001-5652    

DOI:10.1159/000152814

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Glucose-6-phosphate dehydrogenase was purified from blood samples originating from 33 subjects living in the ‘Midi-Pyrenees’ region (Southwest France). Biochemical and electrophoretic characteristics of several enzymatic variants were revealed. The distribution of the mutations in the subjects studied gave the following results: (1) Mediterranean Gd(–) and Gd(–)A identified variants; they constitute the main part of our observations. (2) Two original variants confirmed by the WHO International Reference Laboratory, that is: Gd(–) Toulouse and Gd(+) Luz-Saint-Sauveur; the latter mutation did not produce any haematological disorder. Absence of chronic haemolytic anaemia as well as a high rate of favism could be found in the families studied. As it is generally observed in Mediterranean regions, Southwest France population is characterized by a certain heterogeneity in biochemical and genetic

ISSN:0001-5652    

DOI:10.1159/000152815

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Finger prints of a series of 48 Japanese patients with Klinefelter’s syndrome (47, XXY) were studied as to frequencies of patterns and ridge counts. The patients displayed frequencies of the finger patterns on all digits similar to those of normal female controls. The finger patterns on individual digits of the patients, nevertheless, showed frequencies distinguishable from those of both normal male and female controls; arch pattern on digit I was significantly higher in incidence in Klinefelter’s syndrome, whereas on digit II, ulnar loops were significantly more frequent and whorls less frequent in the patients. The patients were also noted to show significantly lower ridge counts for loops and whorls as compared with the normal controls. In Klinefelter’s syndrome, significant diminution of the total finger ridge counts was demonstrable and this has been attributed not so much to the increased incidence of arches as to the frequent occurrence of patterns with low ridge counts.m The frequencies of finger patterns on all digits similar to those of normal females, the increased occurrence of patterns with low ridge counts as compared with the normal females, noted in the present series, are the characteristic features that are in common with those reported on white patients with this syn

ISSN:0001-5652    

DOI:10.1159/000152816

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Four groups of Lohanas, belonging to the Gujarati, Sindhi and Punjabi were studied for various genetic markers. Lohanas have higher B than A and low Rh(D) negative (1.65–4.64%). The Hp1 gene ranges from 0.1557 to 0.2639; Gm1 is lower (0.34–0.55) than in other populations in Southern India. G-6-PD deficiency was prevalent in 3–8%. All the four groups have a high incidence of the thalassaemia trait and possess Hb-D. Hb, J, and L were also observed in two groups. Data was analysed for intergroup differ

ISSN:0001-5652    

DOI:10.1159/000152817

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

Random samples from four races were examined to determine the frequency of subjects with none, or between 5 and 10 loops or whorls; with 2 or more radial loops, and with 3 or more simple arches. Inter-racial and sex differences occur and affect the description of various concentrations as being common or unusual.

ISSN:0001-5652    

DOI:10.1159/000152818

出版商:S. Karger AG    

年代:1976

数据来源: Karger

摘要:

The results of Pi typing on 330 Portuguese from the area of Lisbon are reported. We found six phenotypes and four alleles out of the 24 described in the literature. The allele PiM is the most frequent as in other populations, PiS shows a high frequency (0.1152), and PiF is absent, which agrees satisfactorily with former studies carried out in Spain. These results are compared with others and the entity of the Iberian population is evoked.

ISSN:0001-5652    

DOI:10.1159/000152819

出版商:S. Karger AG    

年代:1976

数据来源: Karger