GeneID: 14
Names
| Common Name: | α3.7 hybrid | Type: | Gene |
|---|---|---|---|
| Chromosome: | 16 (NC_000016.10) | Locus: | NG_000006.1 (α-locus) |
| HUGO Symbol: | N/A | Full Name: | N/A |
| Exons: | 3 | Introns: | 2 |
Description:
The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated region and introns, but differ significantly over the 3' untranslated region. Alpha thalassaemias result from deletions of one or both of the HBA2 and HBA1 genes; some non-deletion alpha thalassaemias have also been reported. The common α+-thalassaemia deletion “-α3.7” results from homologous recombination between misaligned chromosomes. Incorrect pairing of the HBA2 and HBA1 genes in “-α3.7” deletion leads to the production of the HBA2/HBA1 hybrid gene and a 3.7 kb deletion.
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 17
External Links
No available links
IthaScore
Publications / Origin
- Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ, A review of the molecular genetics of the human alpha-globin gene cluster., Blood , 73(5), 1081-104, 1989
- Borg J, Georgitsi M, Aleporou-Marinou V, Kollia P, Patrinos GP, Genetic recombination as a major cause of mutagenesis in the human globin gene clusters., Clin. Biochem. , 42(18), 1839-50, 2009