撒丁岛G6PD缺乏症（地中海型）杂合子的毛根与红细胞个体表型
Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).
作者信息
Romeo G, Rinaldi A, Urbano F, Filippi G
出版信息
Am J Hum Genet. 1976 Sep;28(5):506-13.
Abstract
G6PD activity was assayed in 20 Sardinian heterozygotes for G6PD deficiency and related to that of LDH and MDH. One of these heterozygotes showed a deficient phenotype in all her follicles, while the remaining 19 had different proportions of deficient, intermediate, and normal follicles. This is in accordance with a previous estimate. Because of the broad fiducial limits at the 5% level and because of some developmental considerations, this value cannot be interpreted as indicative of the number of primordial cells for scalp epidermis at the time of X-chromosome inactivation, as previously stated. The assay of single hair follicles is, however, a very valuable tool for establishing the role of cell selection in the same or in a different tissue, like peripheral blood.
摘要
对20名撒丁岛G6PD缺乏症杂合子的G6PD活性进行了测定，并与LDH和MDH的活性进行了关联。其中一名杂合子的所有卵泡均表现出缺陷型，而其余19名杂合子的卵泡中缺陷型、中间型和正常型的比例各不相同。这与先前的估计一致。由于5%水平时的置信区间较宽，且出于一些发育方面的考虑，如前所述，该值不能被解释为X染色体失活时头皮表皮原始细胞的数量。然而，对单个毛囊的检测是确定细胞选择在同一组织或不同组织（如外周血）中作用的非常有价值的工具。
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Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).撒丁岛G6PD缺乏症（地中海型）杂合子的毛根与红细胞个体表型
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