摘要:

It is argued that a diathesis-stress theory, in which an attempt is made to identify genetic and environmental factors and their interaction, is the most hopeful framework for construing the etiology of schizophrenia. Pairwise concordance rates in the Maudsley schizophrenic twin study, based on the consensus of six diagnosticians, were 50% for MZ and 9% for DZ pairs. Environmental factors were believed to be nonspecific and genetic factors specific. Findings in the literature and our own study were consistent with polygenic inheritance. Assuming schizophrenia to be a threshold character, independent estimates from various classes of relatives showed heritability of the underlying liability to the disorder to be high and were in substantial agreement. This was particularly so when the population incidence was taken to be 1 %. It is argued that some genes may have a much larger effect than others in accounting for trait variance, and that these may be found to influence specific facets of the syndrome. Our model involves interaction with the environment in a complex network of events at all stages, including symptom amelioration, and it is seen as bridging the gap between geneticism and environmentaiism.

ISSN:0001-5652    

DOI:10.1159/000152447

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Assuming random mating and random sampling of pedigrees, the likelihood of a set of pedigree data is developed in terms of: (1) the population distribution of the different genotypes; (2) the phenotypic distributions for the different genotypes, and (3) the genotypic distribution of offspring given the parents’ genotypes. This last is given for any number of unlinked autosomal loci, two linked autosomal loci, an X-linked locus, and combinations of these possibilities. Methods are given for using this likelihood to test specific genetic hypotheses and for genetic counsellin

ISSN:0001-5652    

DOI:10.1159/000152448

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Birth weights of 147 cases of patients affected with sex chromosome anomalies were analyzed. In males with sex chromosome anomalies, there is a trend of decreasing birth weight with an increase in the number of X chromosomes. The addition of a Y chromosome is found not to be correlated with low birth weight. In the females, individuals affected with sex chromosome disorders are, on the average, born lighter than the female newborn controls, but there is no significant difference between the birth weight of each group of female patients with sex chromosome disorders. The evidence suggests that birth weight may be affected by aneuploidy involving the X and not the Y chromosome.

ISSN:0001-5652    

DOI:10.1159/000152449

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

To ascertain whether the genotypic similarity of monozygotic twin partners is reflected in their chromosome measurements despite the crudeness of presently available techniques, the lengths of the long and short arms were measured in 10 cells (5 from each twin partner) from 10 pairs (3 male and 7 female) of aged monozygotic twins. In total, then, measurements were available from 100 cells, derived from peripheral leukocyte cultures of subjects ranging in age between 78 and 89 years. Measurements were made by hand, rather than computer, from photographic karyotypes as customarily constructed in cytogenetic laboratories. The centromeric index, rather than the arm ratio, proved mathematically to be the more precise measure of the relative position of the centromere and, supporting the recommendation of others, it is urged that it be the only measure used. Of the two parameters measuring relative total length, the one relative to the autosomal sum seems preferable to the one relative to the autosomal sum plus X on other than statistical grounds. Even though the present measurements were derived from aged twins, they are in general agreement with those reported in the literature for younger single borns and, like those of other investigators, show marked intraindividual variability combined with relatively low variability between persons. Nonetheless, there emerges for relative length, the seemingly more accurate of the two measures, the indication of greater homogeneity within pairs of monozygotic twins than between pairs. Larger samples, including younger age groups and dizygotic pairs, with many more cells per individual need to be studied before definitive conclusions can be drawn.

ISSN:0001-5652    

DOI:10.1159/000152450

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The trisomy 21 and the trisomy 17–18 syndromes were found in a pair of siblings with normal parent

ISSN:0001-5652    

DOI:10.1159/000152451

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

Seven electrophoretically distinct isozymes of amino acid naphthylamidase were distinguished in extracts of cultured human cells. Differences with respect to molecular weight, solubihty properties and reaction to modifiers suggest that some isozymes are products of different genes while others reflect different types of attachment to cell membranes. Isozyme A which predominates in cells of neoplastic origin is distinct from the other isozymes.

ISSN:0001-5652    

DOI:10.1159/000152452

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The subcellular distribution of several isozymes of amino acid naphthylamidase was studied in HeLa cells by a combination of polyacrylamide gel electrophoresis and cell fractionation techniques. Lysosomes were detected which were fragile and lower in density than mitochondria in sucrose-water gradients. The Cu++ and Triton X-100 sensitive isozyme (A) of amino acid naphthylamidase which predominates in cells of neoplastic origin was found to be soluble. Three isozymes (the B components) were lysosomal. The main slow-moving naphthylamidase isozyme (component D) was microsomal and membrane bound. A membrane bound acid phosphatase isozyme was detected in the lysosomal fraction but also in the microsomal fraction. The significance of membrane bound acid phosphatase and amino acid naphthylamidase was considered with respect to lysosomal turnover.

ISSN:0001-5652    

DOI:10.1159/000152453

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The adenosine deaminase polymorphism was found in lymphocyte lysates. Lymphocytes exhibited an additional ADA isozyme distinguished from other ADA isozymes by its lack of free -SH groups. It was suggested that this new isozyme is controlled by a second genetic locus.

ISSN:0001-5652    

DOI:10.1159/000152454

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

A presumed monospecific isoantibody to a β-lipoprotein antigen was found by the passive hemagglutination technique in the serum of a young man suffering from hemophilia A, who had received multiple blood transfusions. The antigen detected by this antiserum (HSH) occurred in 54.67% of 514 sera from Norwegian blood donors. A negative association between this antigen and the Ag(x) antigen was found. No significant association was found with age, or with blood groups ABO or Rh (D). Family studies revealed that the antigen is inherited as an autosomal dominant trait

ISSN:0001-5652    

DOI:10.1159/000152455

出版商:S. Karger AG    

年代:1971

数据来源: Karger

摘要:

The t triradius is commonly used for anthropological, genetic and medical studies. It is important to be able to refer to its position with accuracy. The present methods for doing this are briefly reviewed. A new formula is presented for correcting the atd angle for lateral deviation. Theuse of this formula results in a more precise measurement of position changes of the t triradius.

ISSN:0001-5652    

DOI:10.1159/000152456

出版商:S. Karger AG    

年代:1971

数据来源: Karger