通过毛球酪氨酸酶检测法检测酪氨酸酶阴性眼皮肤白化病杂合子
Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay.
作者信息
King R A, Witkop C J
出版信息
Am J Hum Genet. 1977 Mar;29(2):164-8.
Abstract
Five heterozygotes for ty-neg OCA had absent or markedly reduced hairbulb tyrosinase activity, when compared to normally pigmented control subjects. Clinically, all five were fully pigmented and could not be distinguished from the normal control subjects. It is proposed that the quantitative hairbulb tyrosinase assay can be used to detect heterozygotes for ty-neg OCA. A mechanism to explain the low levels of activity in the hairbulbs from heterozygotes is discussed.
摘要
与正常色素沉着的对照受试者相比，5名酪氨酸阴性型眼皮肤白化病（OCA）杂合子的毛球酪氨酸酶活性缺失或显著降低。临床上，这5名患者色素沉着均正常，与正常对照受试者无法区分。有人提出，毛球酪氨酸酶定量检测可用于检测酪氨酸阴性型OCA杂合子。本文还讨论了解释杂合子毛球中低活性水平的机制。
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