IthaID: 3112



Names and Sequences

Functionality: Neutral polymorphism
Common Name: African II duplication HGVS Name: NC_000011.9:g.5290168_5290169ins4640332_(5201300_5204930) ins(5237420_5243270)_5290168

Comments: The duplication includes an intact β-globin gene cluster with the sickle cell mutation and a partial wild-type β-globin gene cluster (lacking both the 5'βLCR and 3'HS1) in the same locus, resulting in three copies of β-globin gene in the genome. The duplication event is probably the result of non-homologous recombination between L1PB1 and intron 2 of HBE1. The associated phenotype is likely to be silent when not present with other haemoglobinopathy mutations.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 613.1 kb
Located at: ε, , , δ, β, pseudo β

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Reading NS, Shooter C, Song J, Miller R, Agarwal A, Lanikova L, Clark B, Thein SL, Divoky V, Prchal JT, Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression., Hum. Mutat. , 2016 PubMed
Created on 2016-09-29 09:57:11, Last reviewed on 2016-09-29 10:01:24 (Show full history)

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