CFTR mutation analysis and haplotype associations in CF patients.

Abstract:

:Most newborn screening (NBS) laboratories use second-tier molecular tests for cystic fibrosis (CF) using dried blood spots (DBS). The Centers for Disease Control and Prevention's NBS Quality Assurance Program offers proficiency testing (PT) in DBS for CF transmembrane conductance regulator (CFTR) gene mutation detection. Extensive molecular characterization on 76 CF patients, family members or screen positive newborns was performed for quality assurance. The coding, regulatory regions and portions of all introns were sequenced and large insertions/deletions were characterized as well as two intronic di-nucleotide microsatellites. For CF patient samples, at least two mutations were identified/verified and four specimens contained three likely CF-associated mutations. Thirty-four sequence variations in 152 chromosomes were identified, five of which were not previously reported. Twenty-seven of these variants were used to predict haplotypes from the major haplotype block defined by HapMap data that spans the promoter through intron 19. Chromosomes containing the F508del (p.Phe508del), G542X (p.Gly542X) and N1303K (p.Asn1303Lys) mutations shared a common haplotype subgroup, consistent with a common ancient European founder. Understanding the haplotype background of CF-associated mutations in the U.S. population provides a framework for future phenotype/genotype studies and will assist in determining a likely cis/trans phase of the mutations without need for parent studies.

journal_name

Mol Genet Metab

authors

Cordovado SK,Hendrix M,Greene CN,Mochal S,Earley MC,Farrell PM,Kharrazi M,Hannon WH,Mueller PW

doi

10.1016/j.ymgme.2011.10.013

subject

Has Abstract

pub_date

2012-02-01 00:00:00

pages

249-54

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(11)00382-9

journal_volume

105

pub_type

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