Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221 |
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| Authors: | B Chadefaux D Allard M O Rethoré O Raoul M Poissonnier S Gilgenkrantz C Cheruy H Jérôme |
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| Institution: | (1) Laboratoire de Biochimie Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, F-75743 Paris Cedex 15, France;(2) Institut de Progénèse, 45 rue de Saints Pères, F-75270 Paris Cedex 06, France;(3) Laboratoire de Cytogénétique, Hôpital Henri Mondor, F-94000 Créteil, France;(4) Laboratoire de Cytogénétique, Centre de Transfusion et d'Hématologie de Versailles, F-78000 Versailles, France;(5) Laboratoire de Cytogénétique, Centre de Transfusion Sanguine de Nancy, Avenue de Bourgogne, F-54500 Vandoeuvre, France;(6) Groupe de Recherche de Biologie Prénatale, Centre International de l'Enfance, Inserm U. 73, Chateau de Longchamps, Carrefour de Longchamps-Bois de Boulogne, F-75016 Paris, France |
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| Abstract: | 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 21qter21q22 monosomy; a 0.88 ratio, in 21q2121pter 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. |
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