UNASSIGNED: @entity2395 is among the most common @entity74 worldwide. @entity2395 is usually caused by deletion of one or more of the duplicated HBA genes on chromosome 16. In contrast, most @entity2395 results from point mutations that decrease or eliminate expression of the @entity5358 gene on chromosome 11. Deletions within the @entity5358 locus result in @entity2395 or hereditary persistence of fetal Hb. Although routine diagnostic testing cannot distinguish @entity2395 deletions from point mutations, deletional hereditary persistence of fetal Hb is notable for having an elevated HbF level with a normal mean corpuscular volume. A small number of deletions accounts for most @entity2395 ; in contrast, there are no predominant @entity5358 deletions causing @entity2395 . To facilitate the identification and characterization of deletions of the HBA and @entity5358 globin loci, we performed array-based comparative genomic hybridization using a custom oligonucleotide microarray. We accurately mapped the breakpoints of known and previously uncharacterized @entity5358 deletions defining previously uncharacterized deletion breakpoints by PCR amplification and sequencing. The array also successfully identified the common HBA deletions --(SEA) and --(FIL). In summary, comparative genomic hybridization can be used to characterize deletions of the HBA and @entity5358 loci, allowing high-resolution characterization of novel deletions that are not readily detected by PCR-based methods.

Characterization of Deletions of the HBA and XXXX Loci by Array Comparative Genomic Hybridization.

@entity5358 :: ('3043', 'Gene') :: ['HBB'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic diseases'] @entity2395 :: ('MESH:D013789', 'Disease') :: ['b-thalassemia', 'a-Thalassemia', 'a-thalassemias', 'thalassemia', 'Thalassemia']
@entity5358 :: (3043,Gene) :: ['HBB']
