Lupski J R
Medical Scientist Training Program, Baylor College of Medicine, Houston, USA.
Hosp Pract (1995). 1997 May 15;32(5):83-4, 89-91, 94-5 passim. doi: 10.1080/21548331.1997.11443485.
A broad spectrum of inherited neuropathy has been traced to three myelin genes, yet in the two most common disorders, there is no mutated gene. Instead, a gene has an extra or missing copy, as part of a 1.5-megabase DNA duplication or deletion. Eventually, duplications may emerge as a large fraction of all mutations. The discoveries have implications even for acquired disorders--including carpal tunnel syndrome.
多种遗传性神经病变已被追溯到三个髓磷脂基因，但在两种最常见的疾病中，并没有突变基因。相反，一个基因有额外的拷贝或缺失拷贝，这是150万个碱基对的DNA重复或缺失的一部分。最终，重复可能会成为所有突变中的很大一部分。这些发现甚至对后天性疾病（包括腕管综合征）也有影响。
