Fletcher N A, Holt I J, Harding A E, Nygaard T G, Mallet J, Marsden C D
Department of Clinical Neurology, Institute of Neurology, London, UK.
J Neurol Neurosurg Psychiatry. 1989 Jan;52(1):112-4. doi: 10.1136/jnnp.52.1.112.
It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene. This hypothesis has been tested using a cDNA tyrosine hydroxylase gene probe in three families with this disorder. No evidence for genetic linkage between the disease and tyrosine hydroxylase loci was found; it is possible that the disorder results from a post-transcriptional defect confined to the brain.
有人提出,一种对左旋多巴有反应的遗传性肌张力障碍可能是由于酪氨酸羟化酶基因异常所致。本研究使用cDNA酪氨酸羟化酶基因探针,在三个患有该疾病的家族中对这一假说进行了验证。未发现该疾病与酪氨酸羟化酶基因座之间存在遗传连锁;该疾病可能是由局限于大脑的转录后缺陷引起的。