Detection of CFTR mutations using temporal temperature gradient gel electrophoresis

WONG L., Alper O.

ELECTROPHORESIS, cilt.25, sa.15, ss.2593-2601, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Sayı: 15
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1002/elps.200406015
  • Dergi Adı: ELECTROPHORESIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2593-2601
  • Anahtar Kelimeler: CFTR mutation, mutation detection, temporal temperature gradient gel electrophoresis, CYSTIC-FIBROSIS GENE, IDENTIFICATION, COMMON, PREDISPOSITION, PHENOTYPE, DIAGNOSIS, PATIENT, ABSENCE, DNA
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases with variable incidences and mutation spectra among different ethnic groups. Current commercially available mutation panels designed for the analysis of known recurrent mutations have a detection rate between 38 to 95%, depending upon the ethnic background of the patient. We describe the application of a novel mutation detection method, temporal temperature gradient gel electrophoresis (TTGE), to the study of the molecular genetics of Hispanic CF patients. TTGE effectively identified numerous rare and novel mutations and polymorphisms. One interesting observation is that the majority of the novel mutations are splice site, frame shift, or nonsense mutations that cause severe clinical phenotypes. Our data demonstrate that screening of the 27 exons and intron/exon junctions of the CFTR gene by TTGE greatly improves the molecular diagnosis of Hispanic CF patients.