马查多-约瑟夫病基因定位于人类14号染色体长臂。

The gene for Machado-Joseph disease maps to human chromosome 14q.

作者信息

Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S

机构信息

Department of Neurology, Jichi Medical School, Tochigi, Japan.

出版信息

Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300.

DOI:10.1038/ng0793-300

PMID:8358439

Abstract

Machado-Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Although it was first reported in families of Portuguese-Azorean descent, MJD has also been described in non-Azorean families from various countries, being one of the most common hereditary spinocerebellar degenerations. With the use of highly polymorphic microsatellite DNA polymorphisms, we have assigned the gene for MJD to the long arm of chromosome 14 (14q24.3-q32) by genetic linkage to microsatellite loci D14S55 and D14S48 (multipoint lod score Zmax = 9.719).

摘要

马查多-约瑟夫病（MJD）是一种常染色体显性遗传的多系统神经退行性疾病，主要累及小脑、锥体、锥体外系、运动神经元和动眼神经等系统。尽管MJD最早在葡萄牙亚速尔群岛后裔家族中被报道，但在来自不同国家的非亚速尔群岛家族中也有描述，它是最常见的遗传性脊髓小脑变性之一。通过使用高度多态的微卫星DNA多态性，我们通过与微卫星位点D14S55和D14S48的遗传连锁分析，将MJD基因定位到14号染色体长臂（14q24.3-q32）（多点连锁分析最大lod值Zmax = 9.719）。