IthaID: 2569



Names and Sequences

Functionality: Disease modifying mutation
Common Name: Triplicated α (anti-4.2) HGVS Name: N/A

Comments: Leftward 4.2 kb deletion caused by reciprocal recombination between X boxes producing a chromosome with only one functional α-gene (α-4.2 or leftward deletion) causing α-thalassaemia and this α-triplication allele (anti-4.2) without a thalassaemic effect

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Located at: α2, α1

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Duplication
Ethnic Origin: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing, MLPA

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
Created on 2015-12-07 12:08:12, Last reviewed on 2015-12-07 12:09:27 (Show full history)

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