title: Detection of β-Thalassemia Mutations Using TaqMan Single Nucleotide Polymorphism Genotyping Assays.
abstract: OBJECTIVE
  Sickle-cell anemia and β-thalassemia are two of the most common autosomal recessive disorders in the developing world. The severity of the problem and the pressure it exerts on the health services in the Kingdom of Saudi Arabia forced the introduction of a national premarital screening program to lessen its impact on the society. Furthermore, a significant effort has been exerted in the elucidation of the genetic causes of such diseases to facilitate diagnosis and detection of carriers.
  
  
  METHODS
  We have designed and validated the use of custom TaqMan(®) genotyping assays for the rapid detection of IVS-I-1 (G>A), IVS-I-5 (G>C), codon 39 (C>T), and IVS-I-110 (G>A) mutations in transfusion-dependent β-thalassemia patients' cohort.
  
  
  RESULTS
  We demonstrated that IVS-I-5 (rs33915217) is the most common single-nucleotide variant in our cohort, with the variant allele constituting 26% of the total alleles investigated. However, this variant was not found in 352 alleles screened from buccal swab DNA obtained from healthy volunteers.
  
  
  CONCLUSIONS
  The TaqMan single nucleotide polymorphism (SNP) genotyping assays are a rapid, accurate, and cost-effective method for the initial screening of β-thalassemia cases, which will minimize the need for direct sequencing of the HBB gene, thus reducing detection costs and increasing throughput.
authors.affiliation: 1 Center of Innovation in Personalized Medicine, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .|2 King Fahad Medical Research Center, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Wissam A
authors.initials: WA
authors.lastname: Alwazani
authors.affiliation: 1 Center of Innovation in Personalized Medicine, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Rawabi
authors.initials: R
authors.lastname: Zahid
authors.affiliation: 1 Center of Innovation in Personalized Medicine, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .|3 Faculty of Applied Medical Sciences, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Aisha
authors.initials: A
authors.lastname: Elaimi
authors.affiliation: 1 Center of Innovation in Personalized Medicine, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .|4 King Abdulaziz University Hospital, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Osamah
authors.initials: O
authors.lastname: Bajouh
authors.affiliation: 4 King Abdulaziz University Hospital, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Salwa
authors.initials: S
authors.lastname: Hindawi
authors.affiliation: 4 King Abdulaziz University Hospital, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Badr
authors.initials: B
authors.lastname: Arab
authors.affiliation: 2 King Fahad Medical Research Center, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .|4 King Abdulaziz University Hospital, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Ghazi
authors.initials: G
authors.lastname: Damanhouri
authors.affiliation: 2 King Fahad Medical Research Center, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Mohamad Yassin
authors.initials: MY
authors.lastname: Saka
authors.affiliation: 4 King Abdulaziz University Hospital, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Rola
authors.initials: R
authors.lastname: Turki
authors.affiliation: 5 Department of Biochemistry, Faculty of Science, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Jalaluddin A
authors.initials: JA
authors.lastname: Khan
authors.affiliation: 1 Center of Innovation in Personalized Medicine, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .|6 Center of Excellence in Genomic Medicine Research, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Ashraf
authors.initials: A
authors.lastname: Dallol
authors.affiliation: 1 Center of Innovation in Personalized Medicine, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .|3 Faculty of Applied Medical Sciences, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .|6 Center of Excellence in Genomic Medicine Research, King Abdulaziz University , Jeddah, Kingdom of Saudi Arabia .
authors.forename: Adel M
authors.initials: AM
authors.lastname: Abuzenadah
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000235:genetics; D003062:Codon; D004252:DNA Mutational Analysis / Q000379:methods; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000379:methods; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012529:Saudi Arabia; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D003062:Codon; D055544:beta-Globins