IthaID: 2561



Names and Sequences

Functionality: Disease modifying mutation
Common Name: Triplicated α (anti-3.7) HGVS Name: N/A

Comments: Rightward 3.7 kb deletion caused by reciprocal recombination between Z segments producing a chromosome with only one functional α-gene (α-3.7 or rightward deletion) causing α-thalassaemia and an α-triplication allele without a causative 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: Anaemia [HP:0001903]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW, Triplicated alpha-globin loci in humans., Proc. Natl. Acad. Sci. U.S.A. , 77(1), 518-21, 1980 PubMed
  2. Kanavakis E, Metaxotou-Mavromati A, Kattamis C, Wainscoat JS, Wood WG, The triplicated alpha gene locus and beta thalassaemia., Br. J. Haematol. , 54(2), 201-7, 1983 PubMed
  3. Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A, Kattamis C, The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies., Br. J. Haematol. , 95(3), 467-71, 1996 PubMed
Created on 2015-12-01 16:36:29, Last reviewed on 2019-07-04 12:13:53 (Show full history)

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