Description:
SICKLE CELL ANEMIA
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 |
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0243; HEMOGLOBIN S |
| Identified Mutation |
GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL). |
| |
| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
141900.0243; HEMOGLOBIN S |
| Identified Mutation |
GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL). |
| Remarks |
Clinically affected; sickle cell anemia; the donor subject is homozygous for an A-to-T transversion (GAG>GTG) at nucleotide 20 in exon 1 of the HBB gene which results in the substitution of valine for glutamic acid [GLU6VAL (E6V)] at codon 6; the genotype is homozygous Hb S (HbSS). |
| Chang MM, Natoli ME, Wilkinson AF, Tubman VN, Airewele GE, Richards-Kortum RR, A multiplexed, allele-specific recombinase polymerase amplification assay with lateral flow readout for sickle cell disease detection Lab on a chip24:4115-4127 2024 |
| PubMed ID: 39051493 |
| |
| Balderston S, Taulbee JJ, Celaya E, Fung K, Jiao A, Smith K, Hajian R, Gasiunas G, Kutanovas S, Kim D, Parkinson J, Dickerson K, Ripoll JJ, Peytavi R, Lu HW, Barron F, Goldsmith BR, Collins PG, Conboy IM, Siksnys V, Aran K, Discrimination of single-point mutations in unamplified genomic DNA via Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering24:4115-4127 2020 |
| PubMed ID: 33820980 |
|
|