• 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

相似文献

1
Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling.神经纤维瘤病1型（NF1）基因四个基因内多态性微卫星之间的连锁不平衡及其对遗传咨询的意义。
J Med Genet. 1996 Jul;33(7):590-3. doi: 10.1136/jmg.33.7.590.
2
Linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population.
Ann Genet. 2002 Jan-Mar;45(1):39-44. doi: 10.1016/s0003-3995(02)01105-x.
3
Genotype analysis of the NF1 gene in the French Canadians from the Québec population.
Am J Med Genet. 2001 Dec 1;104(3):189-98.
4
Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population.
Mol Cell Probes. 1999 Dec;13(6):415-20. doi: 10.1006/mcpr.1999.0268.
5
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.1型神经纤维瘤病（NF1）基因内一个Alu重复序列处的新等位基因、半合子状态及缺失
Hum Mol Genet. 1993 Jun;2(6):725-30. doi: 10.1093/hmg/2.6.725.
6
Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.基于聚合酶链反应的多态性基因分型及神经纤维瘤病1型基因座的连锁不平衡分析。
Am J Hum Genet. 1996 Jul;59(1):159-66.
7
Isolation and strategies of novel tetranucleotide microsatellites with polymorphisms from different chromosomes of the rhesus monkey (Macaca mulatta).从猕猴（Macaca mulatta）不同染色体中分离具有多态性的新型四核苷酸微卫星及其策略。
Mol Biol Rep. 2019 Aug;46(4):3955-3966. doi: 10.1007/s11033-019-04842-3. Epub 2019 May 22.
8
Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.西班牙多囊肾病I人群中的连锁不平衡证据。
Am J Hum Genet. 1994 May;54(5):899-908.
9
Microsatellites and Alu elements from the human MHC in Valencia (Spain): analysis of genetic relationships and linkage disequilibrium.人类 MHC 中的微卫星和 Alu 元件在巴伦西亚（西班牙）：遗传关系和连锁不平衡分析。
Int J Immunogenet. 2011 Dec;38(6):483-91. doi: 10.1111/j.1744-313X.2011.01037.x. Epub 2011 Sep 20.
10
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.人类1型神经纤维瘤病（NF1）基因第38内含子中一个信息丰富的CA/GT重复多态性。
Hum Genet. 1993 Oct;92(4):429-30. doi: 10.1007/BF01247353.

引用本文的文献

1
A highly sensitive genetic protocol to detect NF1 mutations.一种高灵敏度的基因检测协议，用于检测 NF1 突变。
J Mol Diagn. 2011 Mar;13(2):113-22. doi: 10.1016/j.jmoldx.2010.09.002.
2
Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.
Neurogenetics. 2008 May;9(2):95-100. doi: 10.1007/s10048-007-0115-z. Epub 2008 Jan 10.
3
Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.在跨越RNU2 - BRCA1的17号染色体q21区段有效抑制重组的证据。
Am J Hum Genet. 1999 May;64(5):1427-39. doi: 10.1086/302358.

本文引用的文献

1
Lack of independence between five DNA polymorphisms in the NF1 gene.
Hum Mol Genet. 1993 Apr;2(4):485. doi: 10.1093/hmg/2.4.485.
2
Mutation of human short tandem repeats.人类短串联重复序列的突变
Hum Mol Genet. 1993 Aug;2(8):1123-8. doi: 10.1093/hmg/2.8.1123.
3
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.1型神经纤维瘤病（NF1）基因内一个Alu重复序列处的新等位基因、半合子状态及缺失
Hum Mol Genet. 1993 Jun;2(6):725-30. doi: 10.1093/hmg/2.6.725.
4
A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.人类1型神经纤维瘤病（NF1）基因第38内含子中一个信息丰富的CA/GT重复多态性。
Hum Genet. 1993 Oct;92(4):429-30. doi: 10.1007/BF01247353.
5
Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.人类神经纤维瘤病（NF1）基因第27内含子中的两个CA/GT重复多态性。
Hum Genet. 1994 Mar;93(3):351-2. doi: 10.1007/BF00212039.
6
Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping.神经纤维瘤病1型（NF1）区域的连锁不平衡：对基因定位的影响。
Am J Hum Genet. 1993 Nov;53(5):1038-50.
7
Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations.来自不同人群的有和没有家族性高胆固醇血症的受试者中低密度脂蛋白受体基因位点的多态性单倍型和重组率。
Am J Hum Genet. 1993 Apr;52(4):808-26.
8
Genomic organization of the neurofibromatosis 1 gene (NF1).神经纤维瘤病1型基因（NF1）的基因组结构。
Genomics. 1995 Jan 1;25(1):9-18. doi: 10.1016/0888-7543(95)80104-t.
9
Nonuniform recombination within the human beta-globin gene cluster.人类β-珠蛋白基因簇内的不均一重组
Am J Hum Genet. 1984 Nov;36(6):1239-58.
10
Detection and localization of single base changes by denaturing gradient gel electrophoresis.通过变性梯度凝胶电泳检测和定位单碱基变化
Methods Enzymol. 1987;155:501-27. doi: 10.1016/0076-6879(87)55033-9.

神经纤维瘤病1型（NF1）基因四个基因内多态性微卫星之间的连锁不平衡及其对遗传咨询的意义。

Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling.

作者信息

Valero M C, Velasco E, Valero A, Moreno F, Hernández-Chico C

机构信息

Unidad de Genétics Molecular, Hospital Ramón y Cajal, Madrid, Spain.

出版信息

J Med Genet. 1996 Jul;33(7):590-3. doi: 10.1136/jmg.33.7.590.

DOI:10.1136/jmg.33.7.590
PMID:8818946
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050668/
Abstract

Four intragenic polymorphic microsatellite markers, AAAT Alu repeat, IVS27AC28.4, ACI27.2, and IVS38GT53.0, located along a 65 kb DNA region of the NF1 gene, were used to genotype 64 Spanish families with neurofibromatosis type 1 (NF1). Linkage disequilirium between each pair of markers was evaluated. Three of these markers, AAAT Alu repeat, ACI27.2, and IVS38GT53.0, exhibit linkage disequilibrium between each other. Analysis of extended haplotypes provides further evidence of the disequilibrium within this region since only 11 haplotypes account for 52% of the total chromosomes. Because of linkage disequilibrium, the informativeness of marker combinations for genotyping of NF1 families is diminished. There was no difference in the overall distribution of alleles between affected and normal chromosomes. An at risk haplotype was not found, as expected for a disease with at least 50% of cases being sporadic.

摘要

沿着神经纤维瘤病1型（NF1）基因的65 kb DNA区域定位的四个基因内多态性微卫星标记，即AAAT Alu重复序列、IVS27AC28.4、ACI27.2和IVS38GT53.0，用于对64个患有1型神经纤维瘤病的西班牙家庭进行基因分型。评估了每对标记之间的连锁不平衡。其中三个标记，即AAAT Alu重复序列、ACI27.2和IVS38GT53.0，彼此之间表现出连锁不平衡。扩展单倍型分析提供了该区域内不平衡的进一步证据，因为仅11种单倍型就占了总染色体的52%。由于连锁不平衡，用于NF1家庭基因分型的标记组合的信息量减少。在患病染色体和正常染色体之间，等位基因的总体分布没有差异。正如预期的那样，对于至少50%的病例为散发性的疾病，未发现风险单倍型。