ABSTRACT
The possibility of using discriminant analysis of creatine kinase levels for detection of Duchenne muscular dystrophy heterozygote carrier was studied. Application of combined genealogical and biochemical information enhanced detection of heterozygotes. It is proposed to apply this method for medical and genetic counselling.
Subject(s)
Creatine Kinase/blood , Genetic Carrier Screening/methods , Muscular Dystrophies/genetics , Adult , Clinical Enzyme Tests , Female , Humans , Male , Middle Aged , Muscular Dystrophies/enzymology , Probability , RiskABSTRACT
The article presents the experience with the use of comprehensive clinico-genealogic and biochemical methods of examination for the purpose of detecting heterozygotic carriership and preventing the birth of children with Duchenne's progressive myodystrophy in the practice of genetic counselling of families in Leningrad.
Subject(s)
Genetic Counseling , Muscular Dystrophies/genetics , Adolescent , Adult , Aged , Child , Child, Preschool , Creatine Kinase/blood , Female , Genetic Carrier Screening , Humans , Male , Middle Aged , Muscular Dystrophies/prevention & control , Pregnancy , Prenatal Diagnosis , SyndromeABSTRACT
Cells of Ehrlich ascites carcinoma were incubated under aerobic and anaerobic conditions with 3H-uridine, and the amount and radioactivity of poly(A)-containing and poly(A)-non-containing fraction of cytoplasmatic RNA were determined. It is shown that RNA biosynthesis, as judged by the labeled precursor incorporation, is nearly similar to that under oxygen supply conditions. The specific radioactivity of poly(A)-containing fraction of cytoplasmatic RNA of cells incubated under anaerobic conditions was 2 times as much as that under aerobic ones.
Subject(s)
Carcinoma, Ehrlich Tumor/metabolism , Cytoplasm/metabolism , RNA, Neoplasm/biosynthesis , Aerobiosis , Anaerobiosis , Animals , Cells, Cultured , In Vitro Techniques , Poly A/biosynthesis , Uridine/metabolismABSTRACT
In experiments in vitro on ascites tumor cells of Ehrlich carcinoma and Zajdela hepatoma the author studied the effect of 2,4-dinitrophenol (an agent dissociating respiration from phosphorylation) on respiration, glycolysis, resynthesis of ATP and synthesis of basic fractions of cytoplasmic RNA by the incorporation of labeled 3N-uridine precursor. It was shown that under optimum conditions of tumor cell incubation (phosphate-rich Igle medium) in the presence of 6.10(-4) M DNP a sharp activation of anaerobic glycosis is observed as well as increased O2 absorption and high level of ATP. Blocked phosphorylation associated with respiration renders no appreciable effect on the biosynthesis of basic fractions (4 S, 18 S, 28 S) of cytoplasmic RNA.
Subject(s)
Carcinoma, Ehrlich Tumor/metabolism , Carcinoma, Hepatocellular/metabolism , Liver Neoplasms/metabolism , Oxidative Phosphorylation/drug effects , RNA, Neoplasm/biosynthesis , Adenosine Triphosphate/metabolism , Animals , Cytoplasm/metabolism , Dinitrophenols/pharmacology , Energy Metabolism/drug effects , Glycolysis/drug effects , In Vitro Techniques , Mice , Neoplasms, Experimental/metabolism , Oxygen Consumption/drug effects , RatsABSTRACT
In two media (krebsringer phosphate and phosphate-enriched Eagle medium) the indices of energetic metabolism (respiration, glycolysis. ATP content) were determined and the metabolism of macromolecular compounds (c-RNA) of Ehrlich carcinoma ascitic cells was investigated. The results of studies of ascites tumor cells metabolism have indicated considerable advantages of phosphate-enriched Eagle medium over krebs ringer phosphate buffer.