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HBA1Hemoglobin Alpha-Locus 1
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9] Human genes: ESRP1I2, epithelial splicing regulatory protein 1 and 2; OVOL1I2, ovo-like zinc finger 1 and 2; HBA1, hemoglobin, [alpha]1; APOC1, apolipoprotein C-1; EIF3E; eukaryotic translation initiation factor 3, subunit E; DDOST; dolichyl-diphosphooligosaccharide-protein glycosyl transferase subunit (non-catalytic); DOPEY2, dopey family member 2; UBAP2, ubiquitin associated protein 2; GSE1, Gse1 coiled-coil protein; ASXL1, additional sex combs like transcriptional regulator 1; UGP2, UDP-glucose pyrophosphorylase 2; WDFY1, WD repeat and FYVE domain containing 1.
DNA sequencing revealed the mutation CCT[right arrow]TCT (Pro[right arrow]Ser) in codon 119 of the third exon of the HBA1 gene.
The Hb Groene Hart mutation in this patient was located on the intact HBA1 gene (genotype, -[[alpha].
MCA does not require the analysis of a single-copy gene for reference because HBA1 and HBA2 serve as reference to each other.
2], leave intact one 3'UTR of either HBA2 or HBA1 (3); therefore, all of these can most likely be diagnosed by MCA.
All three primers will anneal to both the HBA1 and HBA2 PCR products and were designed to work optimally under the same cyclesequencing condition.
In addition, although sequencing of the HBA1 and HBA2 genes on the nondeleted chromosome of both apparent [alpha][alpha]/-[-.