Gieselmann V
Biochemie II, Georg-August-Universität, Göttingen, Federal Republic of Germany.
Hum Genet. 1991 Jan;86(3):251-5. doi: 10.1007/BF00202403.
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ASA). A substantial ASA deficiency has also been described in clinically healthy persons, a condition for which the term pseudodeficiency was introduced. The discrimination of both kinds of deficiencies based on ASA activity determination is difficult and unreliable. This creates a serious problem in the genetic counseling and diagnosis of MLD. The mutations characteristic for the pseudodeficiency (PD) allele have recently been identified. A non-radioactive assay based on the polymerase chain reaction is described, which allows the rapid detection of the ASA pd allele. The assay utilizes pairs of primers that allow either the amplification of the ASA PD allele or of other ASA alleles, since their 3' residues match either the ASA PD allele or other ASA alleles.
异染性脑白质营养不良（MLD）是一种由芳基硫酸酯酶A（ASA）缺乏引起的溶酶体贮积症。临床上健康的人也被描述为存在大量ASA缺乏的情况，针对这种情况引入了“假缺陷”这一术语。基于ASA活性测定来区分这两种缺乏是困难且不可靠的。这在MLD的遗传咨询和诊断中造成了严重问题。最近已经鉴定出假缺陷（PD）等位基因的特征性突变。本文描述了一种基于聚合酶链反应的非放射性检测方法，该方法能够快速检测ASA pd等位基因。该检测方法利用引物对，这些引物对能够扩增ASA PD等位基因或其他ASA等位基因，因为它们的3'残基与ASA PD等位基因或其他ASA等位基因相匹配。
