Suppr超能文献

[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

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验