title: Oligonucleotide array for detection of common severe determinants of alpha thalassemia.
abstract: A simple and an efficient oligonucleotide array was developed to identify common severe determinants of alpha (alpha) thalassemia. A total of 14 probes were designed to detect the most frequently three deletions (-alpha(3.7), -alpha(4.2), -(SEA)) and two non-deletions (alpha(Quong Sze), alpha(Constant Spring)). PCR products were amplified from human genomic DNA and allowed to hybridize with the oligonucleotide array. Hybridization was detected by fluorescence scanning, and alpha globin genotypes were assigned by quantitative analysis of the hybridization results. The efficiency and specificity of identifying alpha globin genotypes using the oligonucleotide arrays was evaluated by blinded analysis of 690 samples from unrelated individuals. The oligonucleotide array method described in this paper provides unambiguous detection of complex combinations of heterozygous, compound heterozygous and homozygous alpha thalassemia genotypes. The experimental results demonstrate that this methodological approach may be applied for screening and for hemological diagnosis in population at large.
authors.affiliation: State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China. bcye@ecust.edu.cn
authors.forename: Bang-Ce
authors.initials: BC
authors.lastname: Ye
authors.forename: Zhuanfeng
authors.initials: Z
authors.lastname: Zhang
authors.forename: Zhengsong
authors.initials: Z
authors.lastname: Lei
mesh_terms: D015415:Biomarkers / Q000032:analysis; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing / Q000379:methods*; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011110:Polymorphism, Genetic; D015203:Reproducibility of Results; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics / Q000378:metabolism*
chemical_list: D015415:Biomarkers; D006447:Hemoglobin H