Literature DB >> 10220150

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online.

I Lerer1, A Laufer-Cahana, J R Rivlin, A Augarten, D Abeliovich.   

Abstract

A deletion mutation of 8.6Kb in the CFTR gene, spanning the exons 17a, 17b and 18 was identified in 4 homozygous unrelated Palestinian CF patients. The patients were of various ethnic subgroups including Muslims, Christians and Druze. The deletion breakpoint occurred within an identical 4bp sequence in introns 16 and 18, and the mutation was defined as 3120+1Kbdel8.6Kb. A simple PCR based assay was designed and using this assay two compound heterozygote patients with the 3120+1Kbdel8.6Kb were identified. The 3120+1Kbdel8.6Kh hearing chromosomes had a common intragenic haplotype and variable flanking polymorphic markers, indicating that it is an ancient founder mutation.

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Year:  1999        PMID： 10220150     DOI： 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU13>3.0.CO;2-C

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  10 in total

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2.  Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

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3.  Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

Authors:  Iris Schrijver; Krista Rappahahn; Lynn Pique; Martin Kharrazi; Lee-Jun Wong
Journal:  J Mol Diagn       Date:  2008-06-13       Impact factor: 5.568

4.  Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Authors:  Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Journal:  Hum Mutat       Date:  2010-04       Impact factor: 4.878

5.  Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Feras M Hantash; Joy B Redman; Dana Goos; Anja Kammesheidt; Matthew J McGinniss; Weimin Sun; Charles M Strom
Journal:  J Mol Diagn       Date:  2007-08-09       Impact factor: 5.568

6.  Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

Authors:  Issa Siryani; Mohamed Jama; Nisreen Rumman; Hiyam Marzouqa; Moein Kannan; Elaine Lyon; Musa Hindiyeh
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7.  Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

Authors:  O Essawi; M Farraj; K De Leeneer; W Steyaert; K De Pauw; A De Paepe; K Claes; T Essawi; P J Coucke
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8.  Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Authors:  Doron M Behar; Ori Inbar; Michal Shteinberg; Michal Gur; Huda Mussaffi; David Shoseyov; Moshe Ashkenazi; Soliman Alkrinawi; Concetta Bormans; Fahed Hakim; Meir Mei-Zahav; Malena Cohen-Cymberknoh; Adi Dagan; Dario Prais; Ifat Sarouk; Patrick Stafler; Bat El Bar Aluma; Gidon Akler; Elie Picard; Micha Aviram; Ori Efrati; Galit Livnat; Joseph Rivlin; Lea Bentur; Hannah Blau; Eitan Kerem; Amihood Singer
Journal:  Mol Genet Genomic Med       Date:  2017-02-19       Impact factor: 2.183

9.  Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.

Authors:  Munis Dundar; Asli Subasioglu Uzak; Murat Erdogan; Yagut Akbarova
Journal:  EPMA J       Date:  2011-05-06       Impact factor: 6.543

10.  Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Authors:  Magali Taulan; Anne Girardet; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Christophe Beroud; Marie des Georges; Mireille Claustres
Journal:  BMC Med Genet       Date:  2007-04-20       Impact factor: 2.103
  10 in total

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