通过基因剂量获得的进一步证据，用于将红细胞酸性磷酸酶（ACP1）和苹果酸脱氢酶（MDH1）基因座定位到2号染色体短臂上。
Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACP1) and malate dehydrogenase (MDH1) loci on chromosome 2p.
作者信息
Larson L M, Bruce A W, Saumur J H, Wasdahl W A
出版信息
Clin Genet. 1982 Oct;22(4):220-5. doi: 10.1111/j.1399-0004.1982.tb01437.x.
Quantitative studies of erythrocyte acid phosphatase (ACP1) and soluble malate dehydrogenase (MDH1), both assigned to distal chromosome 2p, were performed by colorimetric methods on the red cells of four patients in an attempt to demonstrate a gene dosage effect. The patients inherited the unbalanced form of a familial reciprocal translocation, t(2;10)(p24;q26), and had partial duplication 2p. Parents of all patients and siblings of some were included in the study. All patients had increased levels of ACP1 corresponding to the presence of three structural genes. Levels of MDH1 were not increased. Evidence shows that the ACP1 gene is in the region 2p24 leads to 2pter and that MDH is not.
对4名患者的红细胞进行比色法检测，定量研究了均定位于2号染色体短臂远端的红细胞酸性磷酸酶（ACP1）和可溶性苹果酸脱氢酶（MDH1），以试图证明基因剂量效应。这些患者遗传了家族性相互易位t(2;10)(p24;q26)的不平衡形式，且存在2号染色体短臂部分重复。所有患者的父母以及部分患者的兄弟姐妹均纳入研究。所有患者的ACP1水平升高，与三个结构基因的存在相对应。MDH1水平未升高。证据表明，ACP1基因位于2p24至2pter区域，而MDH基因不在此区域。
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