• 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

Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers.

作者信息

Breuning M H, Reeders S T, Brunner H, Ijdo J W, Saris J J, Verwest A, van Ommen G J, Pearson P L

机构信息

Institute of Human Genetics, Sylvius Laboratories, University of Leiden, The Netherlands.

出版信息

Lancet. 1987 Dec 12;2(8572):1359-61. doi: 10.1016/s0140-6736(87)91256-6.

DOI:10.1016/s0140-6736(87)91256-6
PMID:2890952
Abstract

A new polymorphic DNA marker for the diagnosis of autosomal dominant adult polycystic kidney disease (APKD) has been identified. The new marker, 24-1, flanks the APKD gene on the side opposite to the alpha globin on the short arm of chromosome 16. When both DNA polymorphisms bracketing the gene are informative the reliability of prenatal and presymptom diagnosis of polycystic kidney disease in non-recombinants (92% of cases) is more than 99%.

摘要

相似文献

1
Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers.
Lancet. 1987 Dec 12;2(8572):1359-61. doi: 10.1016/s0140-6736(87)91256-6.
2
A second genetic locus for autosomal dominant polycystic kidney disease.常染色体显性多囊肾病的第二个基因位点。
Lancet. 1988 Jul 2;2(8601):8-11. doi: 10.1016/s0140-6736(88)92943-1.
3
Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.利用基因两侧的多态性DNA标记早期诊断多囊肾病的两步法。
J Med Genet. 1990 Oct;27(10):614-7. doi: 10.1136/jmg.27.10.614.
4
[Autosomal dominant polycystic kidney and genetic markers of chromosome 16].[常染色体显性多囊肾与16号染色体的遗传标记]
Nephrologie. 1990;11(2):79-82.
5
Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.成人多囊肾与16号染色体上三个标记之间的遗传连锁研究。
J Med Genet. 1987 Aug;24(8):457-61. doi: 10.1136/jmg.24.8.457.
6
[Gene diagnosis of adult polycystic kidney disease--linkage analysis between APKD gene and alpha-globin gene 3'HVR].[成人多囊肾疾病的基因诊断——APKD基因与α-珠蛋白基因3'HVR之间的连锁分析]
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1991 Feb;13(1):56-9.
7
Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem.
Prenat Diagn. 1989 Nov;9(11):759-67. doi: 10.1002/pd.1970091104.
8
Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe.
Lancet. 1986 Jul 5;2(8497):6-8. doi: 10.1016/s0140-6736(86)92557-2.
9
Mapping the locus of autosomal dominant polycystic kidney disease: diagnostic application.常染色体显性遗传性多囊肾病基因座的定位:诊断应用
Clin Chem. 1989 Jul;35(7 Suppl):B13-6.
10
Characterization of new probes for diagnosis of polycystic kidney disease (PKD1).用于诊断多囊肾病(PKD1)的新型探针的特性分析
Prog Clin Biol Res. 1989;305:69-75.

引用本文的文献

1
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.在英国生物银行的 20 万名个体中分析心血管代谢疾病和特征的罕见遗传变异。
Nat Genet. 2022 Mar;54(3):240-250. doi: 10.1038/s41588-021-01011-w. Epub 2022 Feb 17.
2
Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.芬兰人群常染色体显性多囊肾病的遗传学及表型特征
J Mol Med (Berl). 2005 Aug;83(8):638-46. doi: 10.1007/s00109-005-0644-6. Epub 2005 Mar 17.
3
Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein.
多囊蛋白:体外合成、体内组织表达及亚细胞定位鉴定出一种大型膜相关蛋白。
Proc Natl Acad Sci U S A. 1997 Jun 10;94(12):6397-402. doi: 10.1073/pnas.94.12.6397.
4
Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis.患有常染色体显性多囊肾病的冰岛家庭:连锁分析显示与16号染色体p13.3区域不连锁的家庭。
Hum Genet. 1993 Jul;91(6):609-13. doi: 10.1007/BF00205089.
5
Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family register.在一个自愿参与的家庭登记册中,通过基因标记和超声成像诊断成人多囊肾病。
J Med Genet. 1994 Feb;31(2):115-20. doi: 10.1136/jmg.31.2.115.
6
An RFLP for probe 26-6 that is useful in linkage diagnosis for adult polycystic kidney disease.
Hum Genet. 1993 Feb;90(6):666-7. doi: 10.1007/BF00202490.
7
Haplotype analysis in autosomal dominant polycystic kidney disease.常染色体显性多囊肾病中的单倍型分析
J Med Genet. 1995 Mar;32(3):208-12. doi: 10.1136/jmg.32.3.208.
8
DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease.1型和2型常染色体显性多囊肾病家族的DNA微卫星分析:两种疾病形式临床异质性的评估
J Med Genet. 1995 Jun;32(6):442-5. doi: 10.1136/jmg.32.6.442.
9
Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family.
Hum Genet. 1995 Jul;96(1):83-8. doi: 10.1007/BF00214191.
10
Prenatal diagnosis by transabdominal chorionic villus sampling in the second and third trimesters.
Arch Gynecol Obstet. 1995;256(4):193-7. doi: 10.1007/BF00634491.