Characterization of a novel 21-kilobase-deletion, CFTRdele2,3/21kb/ in the CFTR gene: a severe cystic fibrosis mutation of Slavic origin common in Central and Eastern Europe

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F01%3A0000318" target="_blank" >RIV/00064203:_____/01:0000318 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Characterization of a novel 21-kilobase-deletion, CFTRdele2,3/21kb/ in the CFTR gene: a severe cystic fibrosis mutation of Slavic origin common in Central and Eastern Europe

Original language description

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes,bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for deltaF508/CFTRdele2,3(21 kb)

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/ME%20258" target="_blank" >ME 258: Genetic causes of male infertility:Analysis of CBAVD and azoospermic patients from ethnicaly close population of Slovenia and of the Czech Republic</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2001

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Human Genetics

ISSN

0340-6717

e-ISSN

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Volume of the periodical

106

Issue of the periodical within the volume

3

Country of publishing house

DE - GERMANY

Number of pages

10

Pages from-to

259-268

UT code for WoS article

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EID of the result in the Scopus database

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