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常染色体显性遗传性脊髓小脑共济失调（SCA1）的基因定位于D6S89着丝粒侧，在9个大家族中，该基因与AM10位点的二核苷酸重复序列无重组现象。

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.

作者信息

Kwiatkowski T J, Orr H T, Banfi S, McCall A E, Jodice C, Persichetti F, Novelletto A, LeBorgne-DeMarquoy F, Duvick L A, Frontali M

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.

出版信息

Am J Hum Genet. 1993 Aug;53(2):391-400.

PMID:8101039
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682347/
Abstract

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder which is genetically linked to the short arm of chromosome 6, telomeric to the human major histocompatibility complex (HLA) and very close to D6S89. Previous multipoint linkage analysis using HLA, D6S89, and SCA1 suggested that SCA1 maps centromeric to D6S89. Data from this study using nine large kindreds indicate a maximum lod score between SCA1 and D6S89 of 67.58 at a maximum recombination fraction of .004. To localize SCA1 more precisely, we identified five dinucleotide polymorphisms near D6S89. Genotypic analyses at these polymorphic loci were carried out in nine multigeneration SCA1 kindreds and in the Centre d'Etude du Polymorphisme Humain reference families. A new marker, AM10GA, demonstrates no recombination with SCA1. The maximum lod score for AM10GA linkage to SCA1 is 42.14 at a recombination fraction of 0. Linkage analysis and analysis of recombination events confirm that SCA1 maps centromeric to D6S89 and establish the following order: CEN-D6S109-AM10GA/SCA1-D6S89-LR40-D6S20 2-TEL.

摘要

1型脊髓小脑共济失调（SCA1）是一种常染色体显性疾病，其基因与6号染色体短臂相连，位于人类主要组织相容性复合体（HLA）的端粒位置，且非常靠近D6S89。先前使用HLA、D6S89和SCA1进行的多点连锁分析表明，SCA1定位于D6S89的着丝粒侧。本研究利用9个大家族的数据表明，在最大重组率为0.004时，SCA1与D6S89之间的最大对数优势得分为67.58。为了更精确地定位SCA1，我们在D6S89附近鉴定了5个二核苷酸多态性。在9个多代SCA1家族以及人类多态性研究中心的参照家族中，对这些多态性位点进行了基因型分析。一个新的标记AM10GA显示与SCA1无重组。在重组率为0时，AM10GA与SCA1连锁的最大对数优势得分为42.14。连锁分析和重组事件分析证实，SCA1定位于D6S89的着丝粒侧，并确定了以下顺序：着丝粒-D6S109-AM10GA/SCA1-D6S89-LR40-D6S202-端粒。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba0e/1682347/fafaffb543bf/ajhg00053-0101-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba0e/1682347/fafaffb543bf/ajhg00053-0101-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba0e/1682347/fafaffb543bf/ajhg00053-0101-a.jpg

相似文献

1
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.常染色体显性遗传性脊髓小脑共济失调（SCA1）的基因定位于D6S89着丝粒侧，在9个大家族中，该基因与AM10位点的二核苷酸重复序列无重组现象。
Am J Hum Genet. 1993 Aug;53(2):391-400.
2
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.常染色体显性遗传性脊髓小脑共济失调（SCA1）的基因定位于HLA复合体的端粒侧，并在三个大家族中与D6S89位点紧密连锁。
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The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1).马查多-约瑟夫病基因座与脊髓小脑共济失调基因座（SCA1）不同。
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Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.
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Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.在一个与HLA和F13A1均无紧密连锁关系的家系中，脊髓小脑共济失调基因与6号染色体短臂上的D6S89紧密连锁。
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引用本文的文献

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Mol Cytogenet. 2012 Apr 5;5:17. doi: 10.1186/1755-8166-5-17.
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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.常染色体显性小脑共济失调 I 型：表型和基因型特征的综述。
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A family with hereditary ataxia: HLA typing.一个遗传性共济失调家族：人类白细胞抗原分型
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Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
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Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.患有常染色体显性遗传性单纯小脑共济失调的日本家族，其致病基因定位于19号染色体短臂1区3带1亚带到1区3带2亚带（19p13.1-p13.2），并且与位于19p13.1的脊髓小脑共济失调6型基因中轻度的CAG重复序列扩展密切相关。
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The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.CAG/聚谷氨酰胺重复序列疾病：基因产物与分子发病机制
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Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.三核苷酸重复序列长度及亲本性别对脊髓小脑共济失调I型表型变异的影响。
Am J Hum Genet. 1994 Jun;54(6):959-65.
7
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.I型脊髓小脑共济失调的分子与临床相关性：家族因素对发病年龄影响的证据
Am J Hum Genet. 1994 Aug;55(2):244-52.
8
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.
Neurology. 1984 Dec;34(12):1542-8. doi: 10.1212/wnl.34.12.1542.
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Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.脊髓小脑共济失调：在一个大家系中的发病年龄可变及与人类白细胞抗原的连锁关系
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Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.
Am J Hum Genet. 1989 Feb;44(2):255-63.
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A simple method for subcloning DNA fragments from gel slices.一种从凝胶切片中亚克隆DNA片段的简单方法。
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Vector-Alu PCR: a rapid step in mapping cosmids and YACs.载体-阿尔发重复序列聚合酶链反应：一种在黏粒和酵母人工染色体图谱绘制中的快速步骤。
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