• 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

[Possibilities and prospects of the use of DNA analysis in the diagnosis and prevention of inherited disease in the Ukraine].

作者信息

Livshyts' L A, Gryshko V I, Kravchenko S A

出版信息

Tsitol Genet. 1992 Jul-Aug;26(4):35-42.

PMID:1279869
Abstract

The results from molecular genetic analysis of some mutations in the 10th and 11th exons of cystic fibrosis transmembrane regulator (CFTR) gene as well as of deletions in the 8, 17, 19, 43, 50, 60th exons of dystrophin gene in 61 CF-families and 21 DMD-families from different Ukraine regions are presented. It was shown that delta F508 frequency of CF-patients was 59.2%, the frequencies of S5491, G551D and K533X were about 1%. The frequency of delta F508-carriers analysed among 365 healthy donors from different regions of Ukraine was 1:40. The analyzed deletions of dystrophin gene were revealed only among 6 DMD-patients. The associations of analyzed mutations of CFTR gene and DMD-gene with RELP's in 4 loci of chromosome 7 and 2 loci of X-chromosome, respectively, were found. The results of prenatal diagnosis of cystic fibrosis and DMD are presented.

摘要

相似文献

1
[Possibilities and prospects of the use of DNA analysis in the diagnosis and prevention of inherited disease in the Ukraine].
Tsitol Genet. 1992 Jul-Aug;26(4):35-42.
2
Molecular genetic studies in monogenic and polygenic human diseases.单基因和多基因人类疾病的分子遗传学研究。
Acta Biol Hung. 1997;48(1):121-8.
3
[A molecular genetic analysis of the mutations in the exons of the CFTR gene in cystic fibrosis patients in Ukraine].[乌克兰囊性纤维化患者CFTR基因外显子突变的分子遗传学分析]
Tsitol Genet. 2000 Jul-Aug;34(4):6-9.
4
[Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations].[摩尔多瓦“囊性纤维化基因”某些突变的分子遗传学分析。分子标记的特征及其与各种突变的连锁关系]
Genetika. 1994 Dec;30(12):1616-20.
5
[An analysis of the mutations in the mucoviscidosis gene: the origin and distribution of the delF508 major mutation in Ukraine].
Tsitol Genet. 1995 Nov-Dec;29(6):67-73.
6
Molecular genetic analysis of Turkish cystic fibrosis patients.
Ann Genet. 1993;36(3):144-9.
7
Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.高度异质人群中囊性纤维化的产前诊断。
Prenat Diagn. 1996 Mar;16(3):215-22. doi: 10.1002/(SICI)1097-0223(199603)16:3<215::AID-PD838>3.0.CO;2-7.
8
[Cystic fibrosis. From clinical diagnosis to a mutation specific test].
Ugeskr Laeger. 1993 Feb 1;155(5):292-5.
9
[Portion of certain cystic fibrosis gene mutations and linkage dysequilibrium between the CFTR-gene locus and two DNA marker loci in Russian populations].[俄罗斯人群中某些囊性纤维化基因突变部分以及CFTR基因座与两个DNA标记基因座之间的连锁不平衡]
Genetika. 1994 Jul;30(7):974-7.
10
[Molecular biological analysis of cystic fibrosis--a model example for the strategy of "reverse genetics"].[囊性纤维化的分子生物学分析——“反向遗传学”策略的一个典型例子]
Padiatr Grenzgeb. 1992;31(2):73-95.