Ricketts M H, Zhang X, Manowitz P
Department of Psychiatry, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, N.J. 08854, USA.
Hum Hered. 1995 Jul-Aug;45(4):235-40. doi: 10.1159/000154295.
Pseudodeficiency of arylsulfatase A is a complicating factor in the determination of metachromatic leukodystrophy risk and carrier status. A method using polymerase chain reaction and restriction enzyme digestion to detect the presence of both the mutations that contribute to arylsulfatase A pseudodeficiency is described using DNA from blood or buccal cells. Application of this technique should facilitate determination of metachromatic leukodystrophy status and counseling in families where the pseudodeficiency allele is present.
芳基硫酸酯酶A假性缺乏是测定异染性脑白质营养不良风险和携带者状态时的一个复杂因素。本文描述了一种利用聚合酶链反应和限制性内切酶消化的方法，通过血液或口腔细胞中的DNA来检测导致芳基硫酸酯酶A假性缺乏的两种突变的存在情况。这项技术的应用应有助于在存在假性缺乏等位基因的家庭中确定异染性脑白质营养不良状态并提供咨询服务。
