IthaID: 2569
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | ααα(anti-4.2) | HGVS Name: | NG_000006.1:g.(31957_31978)_(34525_34544)dup |
Also known as: Triplicated α (anti-4.2)
Comments: Alpha-globin gene triplications are not associated with abnormal haematological parameters but may aggravate the phenotype of patients with beta-thalassaemia. Reciprocal recombination between mispaired X boxes results in an allele with the -α4.2 (leftward deletion) [ithaID=301]and an ααα(anti-4.2) triplication allele. The PCR primers used by Wang et al [PMID: 14500599] place the triplicated allele between positions 171094-171115 (HBA2 upstream) and 173662-173681 (HBA2 3'UTR) (GRCh38.p12), producing an amplicon of around 1.7 kb.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Anaemia [HP:0001903] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | N/A |
| Located at: | α2 |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D, Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype., The Journal of clinical investigation, 66(6), 1319-25, 1980
- Trent RJ, Higgs DR, Clegg JB, Weatherall DJ, A new triplicated alpha-globin gene arrangement in man., Br. J. Haematol. , 49(1), 149-52, 1981
- Wang W, Ma ES, Chan AY, Prior J, Erber WN, Chan LC, Chui DH, Chong SS, Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications., Clin. Chem., 49(10), 1679-82, 2003
Created on 2015-12-07 12:08:12,
Last reviewed on 2022-05-18 09:45:18 (Show full history)
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