Vesa J, Hellsten E, Mäkelä T P, Järvelä I, Airaksinen T, Santavuori P, Peltonen L
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Eur J Hum Genet. 1993;1(2):125-32. doi: 10.1159/000472399.
The infantile form of neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in children < 2 years old. The disease is one of the Finnish diseases, enriched in this genetically isolated population. The gene responsible for INCL has been recently assigned to the short arm of human chromosome 1. Here we describe DNA-based prenatal and carrier diagnostics using a highly polymorphic marker (HY-TM1) which demonstrates a strong allelic association to the disease locus. 88% of Finnish INCL patients were observed to have the same affected genotype, suggesting that one major CLN1 mutation is enriched in this population. In contrast, all the non-Finnish INCL patients had different allele combinations.
婴儿型神经元蜡样脂褐质沉积症（INCL）是一种发生在2岁以下儿童的进行性脑病。该疾病是芬兰人群中高发的疾病之一，在这个基因隔离的人群中较为常见。导致INCL的基因最近已被定位到人类1号染色体的短臂上。在此，我们描述了基于DNA的产前诊断和携带者诊断方法，使用一种高度多态性的标记物（HY-TM1），该标记物显示出与疾病位点有很强的等位基因关联。观察发现，88%的芬兰INCL患者具有相同的患病基因型，这表明在该人群中一种主要的CLN1突变较为常见。相比之下，所有非芬兰的INCL患者具有不同的等位基因组合。
