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2p25重复:可溶性酸性磷酸酶(ACP1)基因座定位于2p25的确认。

Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25.

作者信息

Wakita Y, Narahara K, Takahashi Y, Kikkawa K, Kimura S, Oda M, Kimoto H

出版信息

Hum Genet. 1985;71(3):259-60. doi: 10.1007/BF00284586.

Abstract

The regional localization of the gene coding for soluble acid phosphatase (ACP1) has been under debate in the two different chromosome regions, 2p23 or 2p25. Gene dosage studies in a case with a karyotype of 46,XX,dir dup(2) (p25.1----p25.3) showed that the ACP1 activity was increased to 1.4 times the mean value of normal individuals with the same ACP1 phenotype, while the level of soluble malate dehydrogenase (MDH1) was normal. These gene dosage effects indicated that the ACP1 gene locus can be mapped to 2p25.

摘要

编码可溶性酸性磷酸酶(ACP1)的基因区域定位在两个不同的染色体区域,即2p23或2p25,一直存在争议。对一名核型为46,XX,dir dup(2) (p25.1----p25.3)的患者进行的基因剂量研究表明,ACP1活性增加到具有相同ACP1表型的正常个体平均值的1.4倍,而可溶性苹果酸脱氢酶(MDH1)水平正常。这些基因剂量效应表明,ACP1基因位点可定位于2p25。

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