人磷酸核糖甘氨酰胺合成酶基因座定位于21q221区域。
Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.
作者信息
Chadefaux B, Allard D, Rethoré M O, Raoul O, Poissonnier M, Gilgenkrantz S, Cheruy C, Jérôme H
出版信息
Hum Genet. 1984;66(2-3):190-2. doi: 10.1007/BF00286599.
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.
在几例21号染色体部分单体性以及21号染色体完全三体性和部分三体性病例中，对磷酸核糖甘氨酰胺合成酶（GARS）的酶活性进行了研究。在常规21号染色体三体性病例中发现GARS活性过量，21号染色体三体性与正常的比例为1.55。在21q21----21pter单体性病例中发现比例为0.99；在21qter----21q22单体性病例中发现比例为0.54；在21q21----21pter三体性病例中发现比例为0.88，在21q22.1三体性病例中发现比例为1.46。因此，定位于21号染色体的GARS基因座可能位于21q22.1亚带。
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