Description:
HUNTINGTON DISEASE; HD
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Repository
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Centers for Disease Control and Prevention Repository
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| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from LCL
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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|
| Gene |
HD |
| Chromosomal Location |
4p16.3 |
| Allelic Variant 1 |
143100.0001; HUNTINGTON DISEASE |
| Identified Mutation |
(CAG)n EXPANSION; Huntington disease is caused by expansion of a polymorphic trinucleotide repeat (CAG)n located in the coding region of the gene for huntingtin. The range of repeat numbers is 9 to 37 in normal individuals and 37 to 86 in HD patients. |
| Remarks |
CAG repeats in the HD gene are 31 and 18 |
| Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019 |
| PubMed ID: 31230722 |
| |
| Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics105:151-165 2017 |
| PubMed ID: 30503517 |
| |
| Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS, Development of genomic reference materials for Huntington disease genetic testing Genetics in medicine : official journal of the American College of Medical Genetics9:719-23 2007 |
| PubMed ID: 18073586 |
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