门克斯X连锁病：未克隆的成纤维细胞培养物中的杂合子表型
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.
作者信息
Horn N
出版信息
J Med Genet. 1980 Aug;17(4):257-61. doi: 10.1136/jmg.17.4.257.
Abstract
The 64Cu incorporation into uncloned fibroblast cultures from 16 Menkes disease mothers and 19 first and second degree female relatives was examined. The mean incorporation for the Menkes disease mothers (36.2 +/- 3.6 SEM) differed significantly from that of 25 normal subjects (21.7 +/- 0.9 SEM) suggesting the presence of a significant proportion of mutant cells. In addition, the results suggested a heterozygous state in a number of the female relatives. Uncloned fibroblast cultures from four Menkes disease heterozygotes showed increasingly abnormal copper uptake values after repeated freezing procedures. Manipulation of tissue cultures may help to identify a number of female carriers.
摘要
检测了来自16位门克斯病母亲以及19位一级和二级女性亲属的未克隆成纤维细胞培养物中铜-64的掺入情况。门克斯病母亲的平均掺入量（36.2±3.6标准误）与25名正常受试者（21.7±0.9标准误）的平均掺入量有显著差异，这表明存在相当比例的突变细胞。此外，结果表明一些女性亲属处于杂合状态。来自4名门克斯病杂合子的未克隆成纤维细胞培养物在反复冷冻处理后显示出越来越异常的铜摄取值。组织培养的操作可能有助于识别一些女性携带者。
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Ultrastruct Pathol. 1980 Apr-Jun;1(2):237-42. doi: 10.3109/01913128009141420.
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Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.门克斯卷发综合征。一种遗传性铜吸收缺陷病，具有广泛影响。
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