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1
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families.基于对24个日本家庭的连锁分析和连锁不平衡研究，将马查多-约瑟夫病基因定位在由D14S291/D14S280和D14S81界定的3.6厘摩区间内。
Am J Hum Genet. 1995 Jan;56(1):231-42.
2
Strong linkage disequilibrium and haplotype analysis in Japanese pedigrees with Machado-Joseph disease.患有马查多-约瑟夫病的日本家系中的强连锁不平衡和单倍型分析。
Am J Med Genet. 1996 Sep 20;67(5):437-44. doi: 10.1002/(SICI)1096-8628(19960920)67:5<437::AID-AJMG1>3.0.CO;2-H.
3
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.脊髓小脑共济失调3型（SCA3）基因位于14号染色体q24.3 - q32.2上大约3厘摩的区域。
Am J Hum Genet. 1995 Jan;56(1):193-201.
4
The gene for Machado-Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q.马查多-约瑟夫病基因定位于14号染色体长臂上与脊髓小脑共济失调3型基因相同的3厘摩区间。
Neurobiol Dis. 1994 Nov;1(1-2):79-82. doi: 10.1006/nbdi.1994.0010.
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Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.亚速尔群岛后裔家系中的马查多-约瑟夫病与14号染色体有关。
Am J Hum Genet. 1994 Jul;55(1):120-5.
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Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds.
Genomics. 1994 Jun;21(3):645-8. doi: 10.1006/geno.1994.1327.
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Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.马查多-约瑟夫病定位于与3型脊髓小脑共济失调基因座相同的14号染色体区域。
J Med Genet. 1995 Jan;32(1):25-31. doi: 10.1136/jmg.32.1.25.
8
The gene for Machado-Joseph disease maps to human chromosome 14q.马查多-约瑟夫病基因定位于人类14号染色体长臂。
Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300.
9
Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
Hum Genet. 1996 Nov;98(5):620-4. doi: 10.1007/s004390050270.
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A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q.对一个与14号染色体q臂上的DNA标记紧密连锁的患有Machado-Joseph病的大型日本家族进行的临床和病理研究。
Neurology. 1994 Jul;44(7):1302-8. doi: 10.1212/wnl.44.7.1302.

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Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.对四个患有马查多-约瑟夫病的葡萄牙裔巴西家庭中MJD1基因不稳定的扩展CAG重复序列的特征分析。
J Med Genet. 1995 Oct;32(10):827-30. doi: 10.1136/jmg.32.10.827.
3
Molecular analysis of three patients with interstitial deletions of chromosome band 14q31.三名染色体带14q31间质性缺失患者的分子分析
J Med Genet. 1995 Jul;32(7):564-7. doi: 10.1136/jmg.32.7.564.
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Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.北海道的日本人中的脊髓小脑共济失调1型（SCA1）可能源自单一的共同祖先。
J Med Genet. 1995 Aug;32(8):590-2. doi: 10.1136/jmg.32.8.590.

本文引用的文献

1
The gene for Machado-Joseph disease maps to human chromosome 14q.马查多-约瑟夫病基因定位于人类14号染色体长臂。
Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300.
2
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1.常染色体显性遗传性小脑共济失调（SCA2）第二个位点在染色体12q23 - 24.1上的染色体定位。
Nat Genet. 1993 Jul;4(3):295-9. doi: 10.1038/ng0793-295.
3
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.1型脊髓小脑共济失调中不稳定的三核苷酸CAG重复序列的扩增。
Nat Genet. 1993 Jul;4(3):221-6. doi: 10.1038/ng0793-221.
4
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.包含威尔逊病基因区域的定位、克隆及遗传特征分析
Nat Genet. 1993 Dec;5(4):338-43. doi: 10.1038/ng1293-338.
5
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.常染色体显性遗传性I型小脑共济失调的第三个基因座定位于14号染色体q24.3 - qter：存在第四个基因座的证据。
Am J Hum Genet. 1994 Jan;54(1):11-20.
6
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.1型脊髓小脑共济失调中存在导致代际CAG重复序列不稳定的机制的证据。
Nat Genet. 1993 Nov;5(3):254-8. doi: 10.1038/ng1193-254.
7
Anticipation in spinocerebellar ataxia type 2.2型脊髓小脑共济失调中的遗传早现现象
Nat Genet. 1993 Sep;5(1):8-10. doi: 10.1038/ng0993-8c.
8
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).遗传性齿状核红核苍白球路易体萎缩（DRPLA）中CAG重复序列的不稳定扩增。
Nat Genet. 1994 Jan;6(1):9-13. doi: 10.1038/ng0194-9.
9
Is DRPLA also linked to 14q?
Nat Genet. 1994 Jan;6(1):8. doi: 10.1038/ng0194-8.
10
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.齿状核红核苍白球路易体萎缩症：12号染色体短臂上不稳定的CAG三核苷酸重复序列扩增。
Nat Genet. 1994 Jan;6(1):14-8. doi: 10.1038/ng0194-14.

基于对24个日本家庭的连锁分析和连锁不平衡研究，将马查多-约瑟夫病基因定位在由D14S291/D14S280和D14S81界定的3.6厘摩区间内。

Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families.

作者信息

Sasaki H, Wakisaka A, Takada A, Yoshiki T, Ihara T, Suzuki Y, Hamada T, Iwabuchi K, Onari K, Tada J

机构信息

Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.

出版信息

Am J Hum Genet. 1995 Jan;56(1):231-42.

PMID:7825583
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801343/
Abstract

The gene locus of Machado-Joseph disease (MJD) has recently been mapped within a 29-cM subregion of 14q chromosome. We did a linkage study of 24 multigenerational MJD Japanese pedigrees, in an attempt to narrow the candidate region of this gene. Pairwise and multipoint linkage analysis, together with haplotype segregation analysis, led to the conclusion that the MJD gene is located at the 6.8-cM interval between D14S256 and D14S81 (Zmax = 24.78, multipoint linkage analysis). D14S291 and D14S280, located at the center of this interval, showed no obligate recombination with the MJD gene (Zmax = 5.93 for D14S291 and 9.99 for D14S280). A weak, but significant, linkage disequilibrium of MJD gene was noted with D14S81 (P < .05) but not with D14S291 or D14S280. These results suggest that a 3.6-cM interval flanked by D14S291/D14S280 and D14S81 is the most likely location of the MJD gene and that it is closest to D14S81.

摘要

马查多 - 约瑟夫病（MJD）的基因座最近已被定位在14号染色体的一个29厘摩的亚区域内。我们对24个日本MJD多代家系进行了连锁研究，试图缩小该基因的候选区域。两点和多点连锁分析以及单倍型分离分析得出结论，MJD基因位于D14S256和D14S81之间6.8厘摩的区间内（Z最大值 = 24.78，多点连锁分析）。位于该区间中心的D14S291和D14S280与MJD基因未出现必然重组（D14S291的Z最大值 = 5.93，D14S280的Z最大值 = 9.99）。注意到MJD基因与D14S81存在微弱但显著的连锁不平衡（P < .05），而与D14S291或D14S280不存在连锁不平衡。这些结果表明，由D14S291/D14S280和D14S81界定的3.6厘摩区间是MJD基因最可能的位置，且它最靠近D14S81。