Lincoln S, Vaughan J, Wood N, Baker M, Adamson J, Gwinn-Hardy K, Lynch T, Hardy J, Farrer M
Mayo Clinic Jacksonville, FL 32224, USA.
Neuroreport. 1999 Feb 5;10(2):427-9. doi: 10.1097/00001756-199902050-00040.
A coding substitution (I93M) in the ubiquitin carboxy-terminal L1 (UCH-L1) gene has recently been identified in a German family with Parkinson's disease. We have sequenced the entire coding region of the gene in 11 families who have a pattern of disease consistent with autosomal dominant inheritance. We found a polymorphism (S18Y) in exon 3, two polymorphisms in the 5' non-coding region, upstream of the transcription start, and an insertion/deletion polymorphism in intron 4. The S18Y allele is present on approximately 20% of chromosomes in a Caucasian population. These changes are, therefore, unlikely to be pathogenic. We conclude that the I93M variant must either be a rare cause of disease or a harmless substitution whose occurrence in the family reflects a chance co-occurrence.
最近在一个患有帕金森病的德国家庭中发现泛素羧基末端L1（UCH-L1）基因存在编码替换（I93M）。我们对11个具有符合常染色体显性遗传疾病模式的家庭中的该基因整个编码区域进行了测序。我们在第3外显子中发现了一个多态性（S18Y）、转录起始上游5'非编码区域中的两个多态性以及第4内含子中的一个插入/缺失多态性。在高加索人群中，约20%的染色体上存在S18Y等位基因。因此，这些变化不太可能具有致病性。我们得出结论，I93M变异体要么是一种罕见的致病原因，要么是一种无害的替换，其在该家庭中的出现反映了一种偶然的同时发生。
