IthaID: 3283



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --JS HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans about 6.8 kb on the α-globin gene cluster, removing almost the entire α2 and α1 genes. Breakpoints were determined. A 2538 bp deletion (NG_000006.1:g.35801_38338) existed in this deletion by comparison to the -α4.2, as well as a 29 bp insertion (NG_000006.1: g.34497_34527) into the deletion junction, which was derived from the 3' terminal of the α2 coding gene sequence during the recombination events that led to this deletion.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 6.8 kb
Deletion involves: α2, α1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Cao J, He S, Pu Y, Liu J, Liu F, Feng J, Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (- -JS) Causing α0-Thalassemia., Hemoglobin , 2017 PubMed
Created on 2017-12-13 17:34:58, Last reviewed on (Show full history)

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