通过发根的酶分析检测亨特氏杂合子。
Detection of hunter heterozygotes by enzymatic analysis of hair roots.
作者信息
Nwokoro N, Neufeld E F
出版信息
Am J Hum Genet. 1979 Jan;31(1):42-9.
Abstract
We have developed a procedure for testing iduronate sulfatase, the enzyme deficient in Hunter syndrome, in single hair roots. Beta-Hexosaminidase was used as the reference enzyme. The ratio of iduronate sulfatase to beta--hexosaminidase, expressed in arbitrary units of activity, is near zero for Hunter patients and greater than 0.6 in almost all roots of normal individuals. Hair roots of Hunter heterozygotes show a characteristic continuum of activity ratios, ranging from totally deficient up to and including the normal range. The results are consistent with the origin of hair roots from a small number of progenitor cells which obey the Lyon hypothesis. The proportion of roots with low activity can be used to discriminate between normal and heterozygous individuals.
摘要
我们已经开发出一种在单根毛发中检测艾杜糖醛酸硫酸酯酶（亨特综合征中缺乏的酶）的方法。β-己糖胺酶用作参照酶。以任意活性单位表示的艾杜糖醛酸硫酸酯酶与β-己糖胺酶的比率，对于亨特综合征患者接近零，而在正常个体的几乎所有毛发根中大于0.6。亨特综合征杂合子的毛发根显示出活性比率的特征性连续谱，范围从完全缺乏到包括正常范围。结果与毛发根起源于少量遵循莱昂假说的祖细胞一致。低活性毛发根的比例可用于区分正常个体和杂合子个体。
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Detection of hunter heterozygotes by enzymatic analysis of hair roots.通过发根的酶分析检测亨特氏杂合子。
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Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.通过发根裂解物电泳检测莱施-奈恩综合征的杂合子携带者。
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Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis.通过发根分析检测莱施-尼汉病杂合子。
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A probable sex difference in some mutation rates.某些突变率可能存在性别差异。
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