Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221

The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21. An excess of GARS activity was found in regular trisomy 21 with a trisomy 21/normal ratio equal to 1.55. A 0.99 ratio was found in 21q21---...

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Published in:Human genetics 1984-01, Vol.66 (2-3), p.190-192
Main Authors: CHADEFAUX, B, ALLARD, D, RETHORE, M. O, RAOUL, O, POISONNIER, M, GILGENKRANTZ, S, CHERUY, C, JEROME, H
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Carbon-Nitrogen Ligases
Chromosome Banding
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, 21-22 and Y
Classical genetics, quantitative genetics, hybrids
Down Syndrome - enzymology
Down Syndrome - genetics
Female
Fibroblasts - enzymology
Fundamental and applied biological sciences. Psychology
Genetics of eukaryotes. Biological and molecular evolution
Human
Humans
Infant
Ligases - genetics
Male
Multienzyme Complexes
Phosphoribosylglycinamide Formyltransferase
Translocation, Genetic
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Summary:The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21. An excess of GARS activity was found in regular trisomy 21 with a trisomy 21/normal ratio equal to 1.55. A 0.99 ratio was found in 21q21---21pter monosomy; a 0.54 ratio was found in 21qter---21q22 monosomy; a 0.88 ratio, in 21q21---21pter trisomy, and a 1.46 ratio, in 21q22.1 trisomy. Consequently, the GARS gene locus, assigned to chromosome 21, could be localized in subband 21q22.1.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00286599