-
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of Slavic origin common in Central and East EuropeDörk, Thilo ...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 Delta F508/CFTRdele2,3(21 kb) with pairwise-matched Delta F508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%). Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype: XV-2c/KM. 19 "A" and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVSI7bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descentVir: Human genetics. - ISSN 0340-6717 (Vol. 106, no. 3, 2000, str. 259-268)Vrsta gradiva - članek, sestavni delLeto - 2000Jezik - angleškiCOBISS.SI-ID - 2315802
Avtor
Dörk, Thilo |
Macek, Milan, jr. |
Mekus, Frauke |
Tümmler, Burkhard |
Tzountzouris, John |
Casals, Teresa |
Krebsová, Alice |
Koudová, Monika |
Sakmaryová, Iva |
Macek, Milan, sr. |
Vávrová, Věra |
Zemková, Dana |
Gintr, Evgeny |
Petrova, Nica V. |
Ivaschenko, Tatiana |
Baranov, Vladislav |
Witt, Michal |
Pogorzelski, Andrzej |
Bal, Jerzy |
Zékanowsky, Cesary |
Wagner, Klaus |
Stuhrmann, Manfred |
Bauer, Ingrid |
Seydewitz, Hans H. |
Neumann, Thomas |
Jakubiczka, Sybille |
Kraus, Cornelia |
Thamm, Barbara |
Nechiporenko, Marina |
Livshits, Ludmila |
Mosse, Natalia |
Tsukermann, Gennady |
Kadási, Ludovít |
Ravnik-Glavač, Metka |
Glavač, Damjan |
Komel, Radovan |
Vouk, Katja |
Kučinskas, Vaidutis |
Krumina, Astrida |
Teder, Maris |
Kocheva, Svetlana |
Efremov, Georgi D. |
Onay, Tuncer |
Kirdar, Betul |
Malone, Geraldine |
Schwarz, Martin |
Zhou, Zhaoqing |
Friedman, Kenneth J. |
Carles, Soukeyna |
Claustres, Mireille |
Bozon, Dominique |
Verlingue, Claudine |
Férec, Claude |
Tzetis, Maria |
Kanavakis, Emmanuel |
Cuppens, Harry |
Bombieri, Christina |
Pignatti, Pier Franco |
Sangiulol, Federica |
Jordanova, Albena |
Kusic, Jelena |
Radojkovič, Dragica |
Sertić, Jadranka |
Richter, Darko |
Stavljenić Rukavina, Ana |
Bjorck, Eva |
Strandvik, Birgitta |
Cardoso, Horacio |
Montgomery, Mark |
Nakielna, Barbara |
Hughes, Daniel |
Estivill, Xavier |
Aznarez, Isabel |
Tullis, Elizabeth |
Tsui, Lap-Chee |
Zielenski, Julian
Teme
human genetics |
transmembrane conductance regulator |
identification |
alleles |
DNA |
recombination |
heterogeneity |
population |
90-percent |
sequence |
absence
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|---|
Ravnik-Glavač, Metka | 01502 |
Glavač, Damjan | 09275 |
Komel, Radovan | 06135 |
Vouk, Katja | 16114 |
Izberite prevzemno mesto:
Prevzem gradiva po pošti
Obvestilo
Gesla v Splošnem geslovniku COBISS
Izbira mesta prevzema
Mesto prevzema | Status gradiva | Rezervacija |
---|
Prosimo, počakajte trenutek.