• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Real-time PCR analysis of trinucleotide repeat allele expansions in the androgen receptor gene.

作者信息

Chatzikyriakidou Anthoula, Yapijakis Christos, Sofikitis Nikolaos, Vassilopoulos Dimitrios, Georgiou Ioannis

机构信息

Genetics Unit, Department of Obstetrics and Gynaecology, Ioannina University School of Medicine, Ioannina, Greece.

出版信息

Mol Diagn. 2005;9(4):217-9. doi: 10.1007/BF03260095.

DOI:10.1007/BF03260095
PMID:16392902
Abstract

INTRODUCTION

The expansion of specific trinucleotide repeats results in certain genetic disorders.

METHOD

Real-time PCR analysis was used to rapidly discriminate between normal and expanded (CAG)(n) alleles in the androgen receptor gene.

RESULT

The difference in melting temperature (T(m)) between the most common normal and expanded alleles was approximately 1 degrees C.

CONCLUSION

Real-time PCR analysis seems to be a highly reliable and rapid method, which may facilitate the first molecular approach to human trinucleotide repeat disorders.

摘要

相似文献

1
Real-time PCR analysis of trinucleotide repeat allele expansions in the androgen receptor gene.
Mol Diagn. 2005;9(4):217-9. doi: 10.1007/BF03260095.
2
Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism.
Am J Med Genet B Neuropsychiatr Genet. 2014 Oct;165B(7):581-6. doi: 10.1002/ajmg.b.32261. Epub 2014 Jul 31.
3
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.脊髓延髓性肌萎缩症CAG重复序列扩增的测序分析显示不存在重复序列中断。
Neurobiol Aging. 2014 Feb;35(2):443.e1-3. doi: 10.1016/j.neurobiolaging.2013.07.015. Epub 2013 Sep 13.
4
Somatic instability of the androgen receptor CAG repeat in a normal female.
Am J Med Genet A. 2003 Mar 1;117A(2):161-3. doi: 10.1002/ajmg.a.10897.
5
CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group.脊髓性肌萎缩症患者及对照组雄激素受体（AR）基因中的CAG重复多态性。
J Appl Genet. 2005;46(2):237-9.
6
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.携带CAG 45个等位基因的雄激素受体YAC转基因小鼠表现出三核苷酸重复序列不稳定性。
Hum Mol Genet. 1998 Jun;7(6):959-67. doi: 10.1093/hmg/7.6.959.
7
Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease.肯尼迪病杂合子女性携带者中雄激素受体基因的多态性CAG重复长度及其与神经变性的关联。
J Neurol. 2004 Jan;251(1):35-41. doi: 10.1007/s00415-004-0266-x.
8
Alleles with short CAG and GGN repeats in the androgen receptor gene are associated with benign endometrial cancer.雄激素受体基因中具有短CAG和GGN重复序列的等位基因与良性子宫内膜癌相关。
Int J Cancer. 2006 Mar 15;118(6):1420-5. doi: 10.1002/ijc.21516.
9
[Comparison of the number of CAG repeats in the gene for androgen receptors in a control Yugoslav population and in patients with schizophrenia].[南斯拉夫对照人群与精神分裂症患者雄激素受体基因中CAG重复序列数量的比较]
Srp Arh Celok Lek. 2000 Mar-Apr;128(3-4):71-4.
10
Larger trinucleotide repeat size in the androgen receptor gene of infertile men with extremely severe oligozoospermia.患有极重度少精子症的不育男性雄激素受体基因中的三核苷酸重复序列更大。
J Androl. 2001 May-Jun;22(3):444-8.

引用本文的文献

1
Mutant Ataxin-3-Containing Aggregates (MATAGGs) in Spinocerebellar Ataxia Type 3: Dynamics of the Disorder.脊髓小脑共济失调 3 型中的突变型共济失调蛋白 3 包含的聚集物（MATAGGs）：疾病的动力学。
Mol Neurobiol. 2021 Jul;58(7):3095-3118. doi: 10.1007/s12035-021-02314-z. Epub 2021 Feb 24.

本文引用的文献

1
CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group.脊髓性肌萎缩症患者及对照组雄激素受体（AR）基因中的CAG重复多态性。
J Appl Genet. 2005;46(2):237-9.
2
Structural and functional consequences of glutamine tract variation in the androgen receptor.雄激素受体中谷氨酰胺序列变异的结构和功能后果
Hum Mol Genet. 2004 Aug 15;13(16):1677-92. doi: 10.1093/hmg/ddh181. Epub 2004 Jun 15.
3
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA).脊髓延髓肌肉萎缩症的植入前基因诊断
Hum Genet. 2001 Jun;108(6):494-8. doi: 10.1007/s004390100534.
4
Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.斯堪的纳维亚半岛脊髓延髓肌萎缩症（SBMA）中的奠基者效应。
Eur J Hum Genet. 2000 Aug;8(8):631-6. doi: 10.1038/sj.ejhg.5200517.
5
Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG.基于检测未扩增的父源和母源CGG对脆性X综合征进行植入前诊断。
Prenat Diagn. 1999 Dec;19(13):1223-30.
6
Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos.亨廷顿舞蹈症的植入前诊断：临床应用及患病胚胎中亨廷顿基因扩增的分析
Prenat Diagn. 1998 Dec;18(13):1427-36. doi: 10.1002/(sici)1097-0223(199812)18:13<1427::aid-pd493>3.0.co;2-3.
7
Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease).荧光聚合酶链反应及自动片段分析在强直性肌营养不良症（斯坦纳特病）胚胎植入前基因诊断临床应用中的应用
Mol Hum Reprod. 1998 Aug;4(8):791-6. doi: 10.1093/molehr/4.8.791.
8
Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion.脊髓延髓肌肉萎缩症：由三核苷酸重复扩增导致的雄激素受体功能障碍。
J Neurol Sci. 1996 Feb;135(2):149-57. doi: 10.1016/0022-510x(95)00284-9.
9
Prenatal diagnosis of X-linked spinal and bulbar muscular atrophy in a Greek family.希腊一个家族中X连锁脊髓和延髓性肌萎缩症的产前诊断
Prenat Diagn. 1996 Mar;16(3):262-5. doi: 10.1002/(SICI)1097-0223(199603)16:3<262::AID-PD841>3.0.CO;2-F.
10
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice.转基因小鼠雄激素受体基因中扩展三核苷酸重复序列的稳定性
Nat Genet. 1995 Feb;9(2):191-6. doi: 10.1038/ng0295-191.