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通过Alu-(CAG/GTC)n聚合酶链式反应方法克隆(CAG/GTC)n序列标签位点:人类12号染色体及脊髓小脑共济失调2型(SCA2)的研究方法

Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2).

作者信息

Pujana M A, Volpini V, Estivill X

机构信息

Molecular Genetics Department, Cancer Research Institute (IRO), L'Hospitalet de Llobregat, Barcelona, Spain.

出版信息

Nucleic Acids Res. 1996 Sep 15;24(18):3651-2. doi: 10.1093/nar/24.18.3651.

DOI:10.1093/nar/24.18.3651
PMID:8836199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC146120/
Abstract

We report here an Alu-(CAG/GTC)n PCR method for the cloning of STSs with (CAG/GTC)n sequences. We have applied this method to genomic DNA of a somatic cell hybrid containing human chromosome 12 where linkage has been found for a known familiar dominant ataxia (SCA2), which is thought to be due to a (CAG/GTC)n expansion. We have isolated several clones containing (CAG/GTC)n sequences, which include previously identified sequences that map to chromosome 12. This method could be a new PCR approach for the cloning of repeats based on their proximity to Alu sequences.

摘要

我们在此报告一种用于克隆具有(CAG/GTC)n序列的序列标签位点(STS)的Alu-(CAG/GTC)n聚合酶链反应(PCR)方法。我们已将此方法应用于含有人类12号染色体的体细胞杂种的基因组DNA,在该杂种中已发现与一种已知的家族性显性共济失调(脊髓小脑共济失调2型,SCA2)存在连锁关系,该病被认为是由(CAG/GTC)n扩增所致。我们已分离出几个含有(CAG/GTC)n序列的克隆,其中包括先前鉴定出的定位于12号染色体的序列。该方法可能是一种基于与Alu序列的接近程度来克隆重复序列的新型PCR方法。

相似文献

1
Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2).通过Alu-(CAG/GTC)n聚合酶链式反应方法克隆(CAG/GTC)n序列标签位点:人类12号染色体及脊髓小脑共济失调2型(SCA2)的研究方法
Nucleic Acids Res. 1996 Sep 15;24(18):3651-2. doi: 10.1093/nar/24.18.3651.
2
Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions.通过聚合酶链式反应(PCR)产生的大CAG/CTG重复模板,对采用直接法克隆具有CAG/CTG重复扩增的基因的有用性。
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Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1.位于12号染色体q24.1区域的2型脊髓小脑共济失调(SCA2)人类基因的基因组结构。
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[SCA1, SCA2, MJD/SCA3 (CAG)n mutation detection and analysis in patients with hereditary spinocerebellar ataxia from Chinese families].中国家系遗传性脊髓小脑共济失调患者中SCA1、SCA2、MJD/SCA3(CAG)n突变的检测与分析
Zhonghua Yi Xue Za Zhi. 1997 Nov;77(11):819-22.

本文引用的文献

1
Development of a screening set for new (CAG/CTG)n dynamic mutations.用于新型(CAG/CTG)n动态突变的筛查集的开发。
Genomics. 1996 Feb 15;32(1):75-85. doi: 10.1006/geno.1996.0078.
2
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.弗里德赖希共济失调:一种由内含子GAA三联体重复扩增引起的常染色体隐性疾病。
Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423.
3
A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.一个来自唐氏综合征关键区域的新人类基因编码一种在胎儿脑和心脏中高度表达的富含脯氨酸的蛋白质。
Hum Mol Genet. 1995 Oct;4(10):1935-44. doi: 10.1093/hmg/4.10.1935.
4
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.
5
Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms.人类大脑中含新型三联体重复序列的基因:克隆、表达及长度多态性
Genomics. 1993 Jun;16(3):572-9. doi: 10.1006/geno.1993.1232.
6
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.
7
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.
8
Identification and characterization of the gene causing type 1 spinocerebellar ataxia.导致1型脊髓小脑共济失调的基因的鉴定与特征分析。
Nat Genet. 1994 Aug;7(4):513-20. doi: 10.1038/ng0894-513.
9
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.14号染色体长臂32.1区马查多-约瑟夫病新基因中的CAG重复序列扩增。
Nat Genet. 1994 Nov;8(3):221-8. doi: 10.1038/ng1194-221.
10
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.
Nature. 1995 Nov 23;378(6555):403-6. doi: 10.1038/378403a0.