用于鉴定亨特综合征杂合子的发根艾杜糖醛酸硫酸酯酶分析。
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
作者信息
Yutaka T, Fluharty A L, Stevens R L, Kihara H
出版信息
Am J Hum Genet. 1978 Nov;30(6):575-82.
Abstract
Iduronate sulfatase, the enzyme deficient in Hunter syndrome, can be readily measured in individual hair roots. Samples from Hunter syndrome hemizygotes had activities at or near the limits of detection. Samples from two mothers of Hunter syndrome patients, one an obligate heterozygote, had lower average iduronate sulfatase activity than the normal mean, and a significant number of hair roots had activity in the pathognomic range. A third mother showed a normal distribution of enzyme activity, and no hair roots were in the range of those from an affected individual. These results are similar to studies on the distribution of other X-linked enzymes in individual hair root samples from heterozygotes. This suggests that hair root iduronate sulfatase assessment is useful in the detection of Hunter syndrome carrier status, but further refinement of the test system is necessary.
摘要
艾杜糖醛酸硫酸酯酶是亨特综合征中缺乏的酶，可在单个发根中轻松测量。来自亨特综合征半合子的样本其活性处于检测极限或接近检测极限。来自两名亨特综合征患者母亲的样本，其中一位是必然杂合子，其艾杜糖醛酸硫酸酯酶平均活性低于正常均值，并且大量发根的活性处于病理范围。第三位母亲显示酶活性呈正态分布，且没有发根的活性处于患病个体的范围内。这些结果与对杂合子个体发根样本中其他X连锁酶分布的研究相似。这表明发根艾杜糖醛酸硫酸酯酶评估在检测亨特综合征携带者状态方面是有用的，但测试系统需要进一步完善。
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