NA00325
DNA from Fibroblast
Description:
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
X Chromosome Markers |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
ISCN
|
47,XXY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Gene |
G6PD |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
305900.0006; G6PD MEDITERRANEAN |
| Identified Mutation |
SER188PHE; A change from cytosine to thymine at base position 563 in exon 6 causes a change from serine to phenylalanine in amino acid position 188. This mutation is also referred to as the G6PD Mediterranean-563T mutation. |
| Remarks |
Sardinian; heterozygous for G6PD deficiency (med type), Xg(a) antigen present; 47,XXY; G6PD mutation is 563C>T (Ser188Phe{S188F}) |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
| |
| Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG, Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization Prenatal diagnosis26:333-9 2006 |
| PubMed ID: 16491513 |
| |
| Xu, W., Westwood, B., Bartsocas, C.S., Malcorra-Azpiazu, J.J., Indrak, K., and Beutler, E., Glucose-6 Phosphate Dehydrogenase Mutations and Haplotypes in Various Ethnic Groups Blood85(1):257-263 1995 |
| PubMed ID: 7803800 |
| |
| Mutter GL, Pomponio RJ, Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res19:4203-7 1991 |
| PubMed ID: 1678507 |
|
|