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}) |
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 |
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