摘要:

The number of genetic markers identified in human saliva is still small compared to known genetic markers of blood. Enzyme activities that can be detected in human saliva by spectrophotometric techniques are listed. The methodologies currently available for the detection of biochemical genetic markers by polyacrylamide-gel electrophoresis are summarized.

ISSN:0001-5652    

DOI:10.1159/000153019

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The investigation of anthropometric dimensions of the body and head, lung function tests and blood pressure was carried out in 3 separate groups. The analysis of ‘distances’ between particular pairs of the analyzed groups was performed by Penrose’s CH2 and its components CQ2 and (v-1/v)CZ2. It is pointed to various ways of diversification of particular characteristics, which is likely to depend on different selective inertia of particular traits, that is, on different intensity of the effect of genetic and/or ecological factors on their formation. It is shown that as many different biological characteristics of human groups as possible should be taken into consideration for the calculation of ‘dis

ISSN:0001-5652    

DOI:10.1159/000153020

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Detailed pedigree charts were prepared from 120 index patients suffering from Indian childhood cirrhosis (ICC). Of the 120 families, 84 were informative for segregation analysis. Since families were ascertained through patients who came to hospital for treatment, the data were analyzed according to a single-selection model. The observed segregation ratio for the entire data was significantly lower than the one expected under the hypothesis of autosomal recessive inheritance (p = < 0.005). On the other hand, the segregation data for families with at least two affected children (multiplex families) were compatible with autosomal recessive inheritance. On this basis, however, at least 50% of all the cases of ICC would have to be of nongenetic origin. Alternatively, analysis of the data by the Falconer method indicated that ICC could be of multifactorial origin with very strong genetic determination (over 85%).

ISSN:0001-5652    

DOI:10.1159/000153021

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Using the data available on a group of carriers of haemophilia, the mutation rate in the male germ line was compared with that of the female germ line. The mutation rate among the male germ line was about 1-2 times that in the female germ line. An assessment of grandparental ages as a factor in the production of new mutations of haemophilia was also investigated.

ISSN:0001-5652    

DOI:10.1159/000153022

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

From a sample of 1,079 male adult Zairians living in regions where falciparum malaria is endemic 212 sicklers and 867 nonsicklers were compared for eight anthropometric variables. The two groups did not differ significantly in their variances. The sicklers had a higher mean for seven variables, but significantly so for head breadth only. These results are discussed in terms of the balance of the possible effects of the AS genotype on growth and of the possible selective effects of death from malaria in infancy.

ISSN:0001-5652    

DOI:10.1159/000153023

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The chromosome mutations and the number of sister chromatid exchanges induced by different kinds of immunosuppressive treatment were investigated in children and adults with certain types of renal diseases. The aim of the study was to find among the treatment schedules those promising good therapeutic results with the least mutagenic effects. A slightly decreased chromosome stability was found in the patients treated by cyclophosphamide therapy.

ISSN:0001-5652    

DOI:10.1159/000153024

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The possible role of genetic mechanisms, as revealed by inbreeding depression and pleiotropic effects of the ABO, Es D and CA II loci, on blood pressures, pulse rate and hematocrit, was studied in a sample of 7,642 migrant Brazilian individuals of rural origin. It was not possible to confirm previous claims of the effects of ABO blood groups system and inbreeding on diastolic blood pressure. On the other hand, a significant inbreeding depression on pulse rate of about 1.23 bpm/10% F, among adult individuals, was revealed. The observed significant effects of several markers on hemodynamic variables, due to its number, were attributed to chance.

ISSN:0001-5652    

DOI:10.1159/000153025

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Pericentric inversions of chromosome number 9 have been studied in 4 different probands: a normal female with designation 46, XX, inv(9)(p12q13); a male with Down syndrome designated as 47, XY,+21, inv(9)(p13q13); a premature infant with multiple, congenital malformations who was 46, XX, inv(9)(p12q21), and a Down syndrome proband with 47, XYqs,+21, inv(9)(p13q21). All 4 cases were shown to be inherited based on family studies. These families are discussed with reference to the literature as to what possible effect this structural change could have on the reproductive capability of a normal carrier and what guidelines are available for counseling such a carrier.

ISSN:0001-5652    

DOI:10.1159/000153026

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The uptake of adenine and hypoxanthine in HGPRT-deficient and normal human erythrocytes was measured using a rapid filtering centrifugation technique. The transport of hypoxanthine as well as of adenine is impaired in the mutant cells. The transport of hypoxanthine into HGPRT-deficient erythrocytes differs from that into normal cells with respect to a higher accumulation capacity, to lower initial velocities and to the kinetic properties of the translocator. In addition, a higher accumulation capacity and lower initial velocities of adenine uptake could be demonstrated in mutant cells. A linkage of the purine translocator with purine phosphoribosyltransferases associated with the erythrocyte membrane is discussed.

ISSN:0001-5652    

DOI:10.1159/000153027

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Clinical data are presented on a 30-year-old male with normal early development (4-5 years) but subsequent progressive impairment of psychomotor functions. He has marked kyphoscoliosis and talipes calcaneovalgus. The organs appear normal and the patient can walk unaided and feed himself although he does not recognize his parents. He has normal fundi oculi. Biochemical data show an absence of mucopolysacchariduria and very low but detectable levels of N-acetyl-β-D-hexosaminidase in serum and leucocytes. The clinical symptoms are much milder than would normally be expected from such a profound enzyme deficiency (Sandhoff disease).

ISSN:0001-5652    

DOI:10.1159/000153028

出版商:S. Karger AG    

年代:1979

数据来源: Karger