10号染色体短臂上己糖激酶-1的区域定位。
Regional mapping of hexokinase-1 within the short arm of chromosome 10.
作者信息
Dallapiccola B, Novelli G, Micara G, Delaroche I, Moric-Petrovic S, Magnani M
出版信息
Hum Hered. 1984;34(3):156-60. doi: 10.1159/000153453.
PMID:6590458
Abstract
Hexokinase-1 (HK1) activity was determined in red cells of 5 patients with partial duplications of chromosome 10, all of which involved the 10p region. In 4 patients the levels of HK1 activity were higher than the mean activity of controls, strongly indicating a triplex dosage effect. The most likely regional assignment for HK1 would appear to be 10p11.2.
摘要
在5例10号染色体部分重复的患者红细胞中测定了己糖激酶-1（HK1）活性，所有这些重复均涉及10p区域。4例患者的HK1活性水平高于对照组的平均活性，强烈提示三倍体剂量效应。HK1最可能的区域定位似乎是10p11.2。
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