• 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

The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians.

作者信息

Chen S H, Schoof J M, Buroker N E, Scott C R

机构信息

Department of Pediatrics, University of Washington, Seattle 98195, USA.

出版信息

Hum Genet. 1997 Jun;99(6):793-5. doi: 10.1007/s004390050450.

DOI:10.1007/s004390050450
PMID:9187675
Abstract

We have evaluated the structure of the CGG repeat within the FMR1 gene of an Asian population and found the most common size of the repeat to be 29 and 30 with a minor population of 36 repeats. We have isolated and sequenced DNA containing the 36 repeats and found the basis sequence to be (CGG)9AGG(CGG)9AGG-(CGG)6AGG(CGG)9; with a (CGG)6)AGG insertion, designated as 9A9A6A9. Of 144 Asian chromosomes, 11 (8%) had sequences with this insertion. Six different variations of the basic sequence were observed in the population: 9A9A6A2A9, 9A9A6A11, 9A9A16, 9A9A15, 8A9A6A6A9, and 11A6A6A9. All but one of the chromosomes with the insertion had the haplotype of DXS548/ FRAXAC1: 194/D suggesting that the sequences with the 6A insertion arose from a single ancestral allele. We have not observed the insertion in the FMR1 gene of Caucasians or Native Americans. The (CGG)6AGG insertion may be unique to Asians.

摘要

相似文献

1
The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians.
Hum Genet. 1997 Jun;99(6):793-5. doi: 10.1007/s004390050450.
2
Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.格陵兰人群中FMR1（CGG）n等位基因和FRAXA微卫星单倍型的分析：对来自亚洲的新大陆人群的意义。
Eur J Hum Genet. 1999 Oct-Nov;7(7):771-7. doi: 10.1038/sj.ejhg.5200374.
3
Rapid analysis of CGG repeat length in the FMR1 gene.脆性X智力低下1号基因中CGG重复序列长度的快速分析
Clin Chem Lab Med. 2000 Sep;38(9):935-8. doi: 10.1515/CCLM.2000.137.
4
Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.三个欧洲环极人群中FMR1 (CGG)(n) 等位基因和DXS548-FRAXAC1单倍型的分析：与亚洲遗传关系的痕迹
Eur J Hum Genet. 2001 Sep;9(9):724-7. doi: 10.1038/sj.ejhg.5200697.
5
Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMR1 alleles.脆性X（FMR1）基因中等长度等位基因的单倍型研究：ATL1、FMRb和微卫星单倍型与常见大小FMR1等位基因中的单倍型不同。
Hum Biol. 2005 Feb;77(1):137-51. doi: 10.1353/hub.2005.0029.
6
Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: implications for multiple mutational pathways towards fragile X alleles.丹麦人群中FMR1基因（CGG）(n) 等位基因的单倍型和AGG散布分析：对脆性X等位基因多种突变途径的影响
Am J Med Genet. 2000 Jul 17;93(2):99-106. doi: 10.1002/1096-8628(20000717)93:2<99::aid-ajmg4>3.0.co;2-w.
7
Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.FMR1基因CGG重复序列的单倍型和散布分析确定了脆性X综合征起源的两种不同突变途径。
Hum Mol Genet. 1996 Mar;5(3):319-30. doi: 10.1093/hmg/5.3.319.
8
Fragile X founder effects and new mutations in Finland.芬兰的脆性X综合征奠基者效应与新突变
Am J Med Genet. 1996 Jul 12;64(1):226-33. doi: 10.1002/(SICI)1096-8628(19960712)64:1<226::AID-AJMG41>3.0.CO;2-M.
9
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations.巴西人群中FMR1基因CGG重复序列中的AGG散布模式及连锁的DXS548/FRAXAC1单倍型
Am J Med Genet A. 2005 Jan 15;132A(2):210-4. doi: 10.1002/ajmg.a.30376.
10
Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population.非人类灵长类动物群体中脆性X智力低下1（FMR1）同源物内CGG重复序列大小的分布。
Hum Genet. 2003 Oct;113(5):371-6. doi: 10.1007/s00439-003-0982-9. Epub 2003 Aug 7.

引用本文的文献

1
The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility.FMR1基因座上CGG重复序列长度及AGG中断模式与女性不孕的关联
Front Endocrinol (Lausanne). 2025 Jun 17;16:1609471. doi: 10.3389/fendo.2025.1609471. eCollection 2025.
2
Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).目前对卵巢早衰（POI）病因、症状和治疗选择的认识。
Front Endocrinol (Lausanne). 2021 Feb 25;12:626924. doi: 10.3389/fendo.2021.626924. eCollection 2021.
3
Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype.
FMR1基因CGG重复序列中独特的AGG中断仅在与特定单核苷酸多态性单倍型相关的亚洲人中发现。
Genet Res Int. 2016;2016:8319287. doi: 10.1155/2016/8319287. Epub 2016 Mar 2.
4
Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population.中国一大群人中脆性X智力低下1基因CGG重复序列及侧翼单倍型的分布
Mol Genet Genomic Med. 2015 May;3(3):172-81. doi: 10.1002/mgg3.128.
5
The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population.台湾人群中FMR1基因CGG重复序列内的AGG中断模式。
J Genet. 2008 Dec;87(3):275-7. doi: 10.1007/s12041-008-0043-1.