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Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2).

作者信息

Ihara T, Sasaki H, Wakisaka A, Takada A, Yoshiki T, Matsuura T, Hamada T, Suzuki Y, Tashiro K

机构信息

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

出版信息

Jpn J Hum Genet. 1994 Sep;39(3):305-13. doi: 10.1007/BF01874049.

DOI:10.1007/BF01874049
PMID:7841441
Abstract

We did a linkage study of 2 multigenerational pedigrees with dominant olivopontocerebellar atrophy (OPCA) other than SCA1, with chromosome 12q microsatellites. Multipoint linkage analysis led to the conclusion that the disease locus locates within the 6.2 cM interval between IGF1 and D12S84/D12S105. This result coincides with that of Cuban ataxia pedigrees designated as SCA2. Our study provides genetic evidence that dominant OPCA in the Japanese consists of at least two genetically different disorders; SCA1 and SCA2.

摘要

相似文献

1
Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2).
Jpn J Hum Genet. 1994 Sep;39(3):305-13. doi: 10.1007/BF01874049.
2
[Linkage study of hereditary olivopontocerebellar atrophy: genetic evidence for locus heterogeneity in Japanese cases].遗传性橄榄体脑桥小脑萎缩的连锁研究：日本病例中基因座异质性的遗传学证据
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[Linkage study of Machado-Joseph disease: genetic evidence for the locus different from SCA1].[马查多-约瑟夫病的连锁研究：与脊髓小脑共济失调1型不同位点的遗传证据]
Rinsho Shinkeigaku. 1992 Jan;32(1):13-6.
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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.
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[Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes].遗传性脊髓小脑共济失调的连锁研究以及基因座与疾病表型的可能相关性
Rinsho Shinkeigaku. 1993 Dec;33(12):1285-7.
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Linkage studies in spinocerebellar ataxia (SCA).脊髓小脑共济失调（SCA）的连锁研究。
Am J Med Genet. 1980;6(3):251-7. doi: 10.1002/ajmg.1320060309.
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[Clinical study of gene locus heterogeneity in hereditary olivopontocerebellar atrophy (OPCA)--report of 2 pedigrees affected with non SCA1 type OPCA].遗传性橄榄体脑桥小脑萎缩（OPCA）基因位点异质性的临床研究——2个非SCA1型OPCA家系报告
Rinsho Shinkeigaku. 1991 Nov;31(11):1170-6.
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Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).与12号染色体q臂相关的常染色体显性遗传性小脑共济失调I型（脊髓小脑共济失调2型：SCA2）
Clin Neurosci. 1995;3(1):12-6.
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[A clinical study of a family affected with HLA-linked hereditary spinocerebellar ataxia].一项与HLA相关的遗传性脊髓小脑共济失调家系的临床研究
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Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12.人类12号染色体上2型脊髓小脑共济失调基因的遗传定位。
Neurology. 1996 Jun;46(6):1731-5. doi: 10.1212/wnl.46.6.1731.

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