IthaID: 1527



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Chinese (Aγδβ)0 HGVS Name: NG_000007.3:g.48795_127698del78904
Hb Name: N/A Protein Info: deletion of 78904 nts from the Aγ gene to β gene

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48795
Size: 78.904 kb
Deletion involves: , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese, Chinese Zhuang
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ, Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia., Nucleic acids research, 9(24), 6813-25, 1981 PubMed
  2. Mager DL, Henthorn PS, Smithies O, A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints., Nucleic Acids Res. , 13(18), 6559-75, 1985 PubMed
  3. He S, Wei Y, Lin L, Chen Q, Yi S, Zuo Y, Wei H, Zheng C, Chen B, Qiu X, The prevalence and molecular characterization of (δβ)(0) -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population., J. Clin. Lab. Anal. , 2017 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2017-09-07 18:38:39 (Show full history)

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