10号染色体短臂末端至p13三体综合征患者红细胞中HK 1基因剂量效应的证据。
Evidence of gene dosage effect for HK 1 in the red cells of a patient with trisomy 10pter leads to p13.
作者信息
Dallapiccola B, Serena Lungarotti M, Magnani M, Dacha M
出版信息
Ann Genet. 1981;24(1):45-7.
PMID:6971618
Abstract
Quantitative evaluation of six red cell enzymes in a patient with trisomy 10p syndrome showed significantly increased activity levels of HK 1. These results are in agreement with the evidence derived from another similar patient and strongly support the idea of gene dosage effect of HK1 in the erythrocytes of 10p trisomics. It is suggested that the HK 1 structural locus may be in the 10 pter leads to p13 region.
摘要
对一名10号染色体短臂三体综合征患者的六种红细胞酶进行定量评估，结果显示己糖激酶1（HK 1）的活性水平显著升高。这些结果与另一名类似患者的证据一致，并有力地支持了HK1在10号染色体短臂三体患者红细胞中存在基因剂量效应的观点。提示HK 1结构基因座可能位于10号染色体短臂的末端至p13区域。
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