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.
journal_name
J Biotechnoljournal_title
Journal of biotechnologyauthors
Ye BC,Zhang Z,Lei Zdoi
10.1016/j.jbiotec.2004.07.016subject
Has Abstractpub_date
2005-01-12 00:00:00pages
1-9issue
1eissn
0168-1656issn
1873-4863pii
S0168-1656(04)00413-4journal_volume
115pub_type
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