• 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

[Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome].

作者信息

Liu Qiji, Gong Yaoqin, Chen Bingxi, Guo Chenhong, Li Jiangxia, Guo Yishou

机构信息

Department of Medical Genetics, School of Medicine, Shandong University, Jinan, Shandong, 250012 P. R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Feb;19(1):22-5.

PMID:11836680
Abstract

OBJECTIVE

To determine the linkage between Smith-Fineman-Myers syndrome (SFMS) and X-linked nuclear protein(XNP) locus.

METHODS

Polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to genotype two polymorphic short tandem repeats within XNP gene.

RESULTS

One of the two short tandem repeats was informative in SFMS family from Shandong, China. Recombination between SFMS locus and XNP gene was observed in the SFMS family.

CONCLUSION

XNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level.

摘要

相似文献

1
[Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Feb;19(1):22-5.
2
[Linkage analysis and mutation detection of GRIA3 in Smith--Fineman--Myers syndrome].[史密斯-费曼-迈尔斯综合征中GRIA3的连锁分析与突变检测]
Yi Chuan Xue Bao. 2001 Nov;28(11):985-90.
3
[Fine mapping of Smith-Fineman-Myers syndrome and exclusion of GPC3, GPCR2 MST4 and GLUD2 as candidate genes].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):198-202.
4
Molecular-clinical spectrum of the ATR-X syndrome.ATR-X综合征的分子临床谱
Am J Med Genet. 2000 Fall;97(3):204-12. doi: 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X.
5
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
Am J Med Genet. 2000 Mar 6;91(1):83-5.
6
[Mapping the gene responsible for Smith-Fineman-Myers syndrome to Xq25].[将导致史密斯-法恩曼-迈尔斯综合征的基因定位到Xq25]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Oct;16(5):277-80.
7
Smith-Fineman-Myers syndrome: report on a large family.史密斯-法伊曼-迈尔斯综合征:关于一个大家庭的报告。
Am J Med Genet. 1993 Sep 1;47(3):307-11. doi: 10.1002/ajmg.1320470302.
8
XNP mutation in a large family with Juberg-Marsidi syndrome.一个患有朱伯格-马西迪综合征的大家庭中的XNP突变。
Nat Genet. 1996 Apr;12(4):359-60. doi: 10.1038/ng0496-359.
9
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.ATR-X基因中的剪接突变可导致无α地中海贫血的畸形智力发育迟缓表型。
Am J Hum Genet. 1996 Mar;58(3):499-505.
10
[Polymorphic loci and polymorphism analysis of short tandem repeats within XNP gene].
Yi Chuan Xue Bao. 2002;29(3):201-5.

引用本文的文献

1
Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53.由Snf2蛋白ATRX的靶向破坏导致的神经元死亡是由p53介导的。
J Neurosci. 2008 Nov 19;28(47):12570-80. doi: 10.1523/JNEUROSCI.4048-08.2008.
2
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.CUL4B基因发生突变,该基因编码一种泛素连接酶复合物中的cullin蛋白成员,会导致X连锁智力障碍。
Am J Hum Genet. 2007 Mar;80(3):561-6. doi: 10.1086/512489. Epub 2007 Jan 25.