Description:
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
X Chromosome Markers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,X,del(X)(p21.3p11.4).arr Xp21.3p11.4(26898093-39107755)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (-)Xp21>Xp21 |
| Remarks |
Mild mental retardation; normal gonad development; patient has partial OTC deficiency and heterozygosity for chronic granulomatous disease; lymphocytes and fibroblasts show random X inactivation; in lymphoid culture, del(X) is late replicating; same subject as GM07323 |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Wang TS, Pearson BE, Suomalainen HA, Mohandas T, Shapiro LJ, Schroder J, Korn D, Assignment of the gene for human DNA polymerase alpha to the X chromosome. Proc Natl Acad Sci U S A82:5270-4 1985 |
| PubMed ID: 2410918 |
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| Francke U, Random X inactivation resulting in mosaic nullisomy of region Xp21.1---- p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet38:298-307 1984 |
| PubMed ID: 6510024 |
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| Lindgren V, de Martinville B, Horwich AL, Rosenberg LE, Francke U, Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science226:698-700 1984 |
| PubMed ID: 6494904 |
| dbSNP |
dbSNP ID: 11043 |
| Gene Cards |
XK |
| Gene Ontology |
GO:0005215 transporter activity |
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GO:0006810 transport |
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GO:0006865 amino acid transport |
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GO:0015171 amino acid transporter activity |
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GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:7504 |
| NCBI GTR |
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
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314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| OMIM |
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX |
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314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK |
| Omim Description |
CYTOCHROME-b-NEGATIVE GRANULOMATOUS DISEASE, X-LINKEDCYTOCHROME b-245, BETA POLYPEPTIDE, INCLUDED; CYBB, INCLUDED |
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GRANULOMATOUS DISEASE, CHRONIC; CGD |
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KELL BLOOD GROUP PRECURSOR SUBSTANCE; KxMCLEOD SYNDROME, INCLUDED |
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MCLEOD PHENOTYPE, INCLUDED |
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Xk LOCUS |
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