IthaID: 3596
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Gγ duplication | HGVS Name: | NG_000007.3:g.(41526_42954)_(48036_49186)del |
Also known as: -Gγ-Gγ-, HBG2 duplication
Comments: The Gγ-Gγ-globin gene arrangement was first observed in Black families from Southeastern USA. Adults with this globin gene arrangement have low HbF levels (<1%) with heterocellular distribution in red cells and Gγ values only slightly higher than observed for persons with the -Gγ-Aγ- globin gene arrangement. Observed in Black and Sardinian newborns with increased Gγ/(Gγ+Aγ) chain ratios (>80%). The presence of the -158C>T substitution in the two Gγ-globin genes has been associated with elevated HbF in adults, a condition called Atlanta type of HPFH [IthaID: 3435]. HGVS name was created based on the affected probes of the MLPA analysis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 41526 |
| Size: | N/A |
| Located at: | Gγ |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Black, Sardinian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Powers PA, Altay C, Huisman TH, Smithies O, Two novel arrangements of the human fetal globin genes: G gamma-G gamma and A gamma-A gamma., Nucleic Acids Res., 12(18), 7023-34, 1984
- Huisman TH, Chen SS, Nakatsuji T, Kutlar F, A second family with the Atlanta type of HPFH., Hemoglobin, 9(4), 393-8, 1985
- Manca L, Masala B, Orzalesi M, Huang HJ, Huisman TH, Abnormal gamma-globin gene arrangements in Sardinians., Hemoglobin, 12(0), 741-53, 1988
- Kutlar A, Kutlar F, Gu LG, Mayson SM, Huisman TH, Fetal hemoglobin in normal adults and beta-thalassemia heterozygotes., Hum. Genet., 85(1), 106-10, 1990
- Efremov DG, Dimovski AJ, Huisman TH, The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin., Blood, 83(11), 3350-5, 1994