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Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia.
In: Ophthalmic Genetics, Jg. 34 (2013-12-01), Heft 4, S. 229-233
Online
academicJournal
Zugriff:
Purpose: To investigate the possibility of duplications or deletions within the CHM gene as a cause of choroideremia (CHM). Materials and Methods: Eight males and one female subject were identified in whom clinical features were consistent with a clinical diagnosis of CHM. In all cases, sequencing of the coding region and adjacent intronic splice sites did not identify a mutation. In some cases, supplemental immunoblot analysis of protein from peripheral blood leukocytes with anti-REP-1 antibody confirmed absence of Rab escort protein-1, REP-1. A multiplex ligation-dependent probe amplification assay (MLPA) for the CHM gene was developed to test for deletions and duplications within the CHM gene. Results: A duplication of exons 3-8 of the CHM gene (NM_000390.2) was identified in one case. Discussion: While likely an uncommon event, duplication within the CHM gene could be considered as an explanation for CHM cases in which no mutation is found by sequence analysis. [ABSTRACT FROM AUTHOR]
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Titel: |
Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia.
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Autor/in / Beteiligte Person: | Chi, Jonathan Y. ; MacDonald, Ian M. ; Hume, Stacey |
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Zeitschrift: | Ophthalmic Genetics, Jg. 34 (2013-12-01), Heft 4, S. 229-233 |
Veröffentlichung: | 2013 |
Medientyp: | academicJournal |
ISSN: | 1381-6810 (print) |
DOI: | 10.3109/13816810.2012.752016 |
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