ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01962.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

In this review, we have summarized the data showing that about one‐third of all of the known “inborn errors of metabolism” can be detected by white blood cell lysates prepared from 5 to 10 ml of blood, or by cultivated somatic cells grown from either skin biopsy or amniotic fluid obtained by amniocentesis. The ability to simplify the diagnostic procedure in this manner represents an important step forward for the practicing phys

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01963.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Turner's syndrome and variations of Turner's syndrome including “mixed” gonadal dysgcnesis may be viewed as members of a single group of disorders, the gonadal dysgeneses. Seven patients are described whose various clinical and cytogenetic features make them represcntative of the many individuals with one of the gonadal dysgeneses reported from other clinics. The developmental abnormalities which occur, including dysgenetic gonadal tissue, may be traced to the presence during embryonic life of a monosomic (45, X) or a genetically deficient (e.g., 46, XXqi) cell line, whereas a degree of normal gonadal development in some individuals may he traced to the presence also of normal female or male cells.A unifying explanation for these disorders is presented in terms of a single erroneous chromosomal event occurring after fertilization. Such an event may well be an intrachromosomal rearrangement affecting either an X or a Y, from which may derive a cell line containing a structurally abnormal sex chromosome, a monosomic cell line, or both. The preponderance of affected individuals showing non‐mosaic monosomy (45, X), or the mosaic combination of monosomic cells with cells having a structurally rearranged X or Y chromosome, points to the zygote as the cell in which the disruptive event occurs most often. The less frequent co‐existence of normal diploid cells with abnormal (monosomic or deficient) cells indicates that the disruptive event sometimes occurs in an early postzygot

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01964.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Two additional diseases, Pompe's disease and Pelizaeus‐Merzbacher disease, have been shown to demonstrate cellular metachromasia. In addition, our studies of metachromasia in fibroblasts from skin biopsies taken from patients with a variety of other disorders are described and our impression of the limited usefulness of metachromasia is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01965.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

An undescribed fast‐migrating serum ceruloplasmin variant has been detected by acrylamide gel clectrophoresis with a double stain technique for ceruloplasmin and haptoglobin. The serum type migrated identically to ascites fluid ceruloplasmin from one alcoholic cirrhosis patient and three ovarian carcinoma patient

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01966.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Available genetic evidence on a number of other species shows that alcohol dehydrogenase (ADH: 1.1.1.1) seen in liver and kidney of vertebrates is specified by the same gene locus. Also in the case of man and the mouse, ADH from liver and kidney show identical electrophoretic mobilities. Yet, in development, ADH appears much earlier in liver than in kidney, and a twofold sex difference is seen in the amount of ADH contained in adult kidney of mice and man: Kidney ADH activity of adult females is about one‐fourth and that of adult males is about one‐half of the liver ADH activity.When castrated adult male and female mice are given 10 mg testosterone, kidney ADH activity rises to about the same level as liver ADH.On the basis of the above, we postulate that the ADH locus of kidney but not of liver is under the control of a secondary repressive genetic regulatory mechanism. This genetic block on transcriptional and translational activity of the ADH locus is removed by androgenic steroid which serves as an inducer. As long as this block is completely removed, the ADH locus of kidney functions at about the same innate rate as the ADH locus of li

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01967.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY

摘要:

Human antibodies to human IgA are detected by a sensitive passive hemagglutination assay using IgA paraproteins. The antibodies have a dichotomy of specificities: (1) class‐specific with titers frequently higher than 1:1000 produced by persons lacking IgA, and (2) antibodies with limited specificity (titers less than 1:256) produced by persons with normal IgA when repeatedly transfused. Either type of anti‐IgA belonging to the IgG class was present in 86 per cent of the patients with anaphylactoid and urticarial transfusion reactions, which was consistent with binding of the complement by such antibodies. Anti‐IgA antibodies were detected in 16 per cent of the cases with multiple transfusions received during openheart surgery procedure; they also have a significantly high incidence in the sera of recently delivered women. One fetus had IgM anti‐IgA, probably as a result of immunization to maternal IgA. Serum obtained from a Caucasian woman before and after an anaphylactoid reaction to a blood transfusion contained anti‐IgA antibodies of limited specificity of the IgG class, possibly as a result of isoimmunization in pregnancy. The patient's serum was used as an agglutinator in passive hemagglultination assays on normal serum, which resulted in the definition of Am(l), the first genetically determined allotype of human IgA. On the basis of serologic and immunochemical evidence, Am(1) was localized in the a chains. Based on its gene frequencies and on family studies, Am(l) was established as a mendelian dominant trait. The isoantigen is associated with γA2subclass but not with the serum γA2levels. Am(1) is different from the other allotypes of human immunoglobulins, the Gm and Inv types. Am(1) is detectable in salivary IgA; it was not detectable in cord sera. Its polymorphism makes it suitable for studies of population genetics and the molecular bio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1970.tb01968.x

出版商:Blackwell Publishing Ltd    

年代:1970

数据来源: WILEY