CFTR structural rearrangements are not a major mutational mechanism in black and coloured southern African patients with cystic fibrosis

South African Medical Journal

Volumn 99, Issue 10, 2009, Pages 724-

  De Carvalho, Candice Lee ^a   Ramsay, Michele ^a  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

CYSTIC FIBROSIS; ETHNICITY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENE STRUCTURE; GENETIC ANALYSIS; GEOGRAPHIC DISTRIBUTION; HUMAN; LETTER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PROMOTER REGION; PROTEIN DOMAIN; RACE DIFFERENCE;

AFRICAN CONTINENTAL ANCESTRY GROUP; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA COPY NUMBER VARIATIONS; EXONS; GENE DELETION; GENE REARRANGEMENT; HUMANS; MUTATION; SOUTH AFRICA;

EID: 70450178550     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (4)

1. Férec C, Casals T, Chuzhanova N, et al. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. EJHG 2006; 14(5): 567-576.
2. Hantash FM, Redman JB, Goos D, et al. Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. JMD 2007; 9(4): 556-560. (Pubitemid 47434123)
3. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens, F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. NAR 2002; 30(12): e57.
4. des Georges M, Guittard C, Templin C, et al. WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient. JMD 2008; 10(6): 544-548.