Erythrocyte enzyme allotypes in the X-linked recessive disorders, Duchenne muscular dystrophy and haemophilia-A hemizygotes and heterozygotes.
The erythrocyte enzyme-systems acid phosphatase, phosphoglucomutase, glutamate pyruvate transaminase, adenosine desaminase, adenylate kinase, glyoxase, glucose-6-phosphate dehydrogenase and esterase-D-isoenzyme phenotypes were studied for their percentile distribution and were compared with their incidence in the diseases with X-linked recessive heredity, Duchenne muscular dystrophy (DMD) and haemophilia-A, in hemizygous male children and heterozygous mothers. Considering the frequency distribution of the above mentioned isoenzyme phenotypes of the enzyme-systems in DMD, the phenotypes proved to be homogeneous, only the X transmitted 6-phosphogluconate dehydrogenase (6-PGD) isoenzyme types were found to be genetic markers in DMD hemizygotes and heterozygotes. In these genotypes the 6-PGD A phenotype showed a decrease while the phenotypes 6-PGD AB and B were significantly increased. The adenylate kinase (AK) 2-1 isoenzyme phenotype was increased to 25% against the population frequency of 6.34%, while the AK 1-1 phenotype occurred in 75% against its population frequency of 93.59%, showing a significantly decreasing tendency in haemophilia-A hemizygotes and heterozygotes.
László
A
A
Kósa
F
F
Zimányi
I
I
Egyed
A
A
D000135:Acid Phosphatase / Q000235:genetics; D000243:Adenosine Deaminase / Q000235:genetics; D000263:Adenylate Kinase / Q000235:genetics; D000410:Alanine Transaminase / Q000235:genetics; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics; D004798:Enzymes / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D008040:Genetic Linkage; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D006467:Hemophilia A / Q000201:enzymology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D007791:Lactoylglutathione Lyase / Q000235:genetics; D008297:Male; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype; D010733:Phosphoglucomutase / Q000235:genetics; D014960:X Chromosome
D004798:Enzymes; D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase; D000410:Alanine Transaminase; D000263:Adenylate Kinase; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human; D000135:Acid Phosphatase; D000243:Adenosine Deaminase; D007791:Lactoylglutathione Lyase; D010733:Phosphoglucomutase