Description:
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
HEMOGLOBIN--BETA LOCUS; HBB
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Line LAZ-149; patient has 100% HbF; homozygous for HPFH-1; large (105Kb) deletion of beta globin gene cluster; also heterozygous for a single alpha globin gene deletion (alpha thalassemia 2) |
| Tuan D, Feingold E, Newman M, Weissman SM, Forget BG, Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man. Proc Natl Acad Sci U S A80:6937-41 1983 |
| PubMed ID: 6196781 |
| |
| Tuan D, Murnane MJ, deRiel JL, Forget BG, Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin. Nature285:335-7 1980 |
| PubMed ID: 6154897 |
| |
| Tuan D, Biro PA, deRiel JK, Lazarus H, Forget BG, Restriction endonuclease mapping of the human gamma globin gene loci. Nucleic Acids Res6:2519-44 1979 |
| PubMed ID: 461196 |
| |
| Forget BG, Hillman DG, Lazarus H, Barell EF, Benz ej JR, Caskey CT, Huisman TH, Schroeder WA, Housman D, Absence of messenger RNA and gene DNA for beta-globin chains in hereditary persistence of fetal hemoglobin. Cell7:323-9 1976 |
| PubMed ID: 947544 |
|
|