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Molecular genetic testing used in Duchenne and Becker muscular dystrophy

Molecular genetic testing used in Duchenne and Becker muscular dystrophy
Gene symbol Test method Mutations detected Mutation detection rate by test method*
DMD BMD
Affected males Heterozygous females Affected males Heterozygous females
DMD Deletion/duplication analysisΔ Deletion of one or more exons or the whole gene ~50-65% ~50-65% ~65-70% Unknown
Duplication of one or more exons ~5-10% ~5-10% ~5-10% Unknown
Sequence analysis/mutation scanning Point mutations (sequence variants)§ ~20-35%¥ ~25-35% ~20-30%¥ Unknown
DMD: Duchenne muscular dystrophy; BMD: Becker muscular dystrophy; CGH: comparative genomic hybridization; PCR: polymerase chain reaction.
* The ability of the test method used to detect a mutation that is present in the indicated gene. The mutation detection rates reflect approximate values.
¶ The mutation spectrum for females heterozygous for a DMD mutation resulting in BMD has not been well documented, but is presumed to be similar to the spectrum for males with BMD. Similarly, there are less data about females heterozygous for a DMD mutation resulting in DMD, but it is also presumed to be similar to that seen in males with DMD.
Δ Testing that identifies deletions/duplications not readily detectable by sequence analysis of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification, or targeted array CGH (gene/segment-specific) may be used. A full array CGH analysis that detects deletions/duplications across the genome may also include this gene/segment.
Sequence analysis and mutation scanning of the entire gene can have similar detection frequencies; however, detection rates for mutation scanning may vary considerably between laboratories based on specific protocol used.
§ Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations.
¥ Lack of amplification by PCR prior to sequence analysis can suggest a putative deletion of one or more exons or the entire X-linked gene in a male; confirmation may require additional testing by deletion/duplication analysis.
‡ Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.
Reference:
  1. Darras BT, Menache-Stroninki CC, Hinton V, Kunkel LM. Dystrophinopathies. In: Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician’s Approach, 2nd ed, Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (Eds), Academic Press, San Diego 2015.
Modified from: Darras BT, Miller DR, Urion DK. Dystrophinopathies, September 2000 [Updated November 26, 2014]. GeneReviews at GeneTests: Medical Genetics Information Resource. Available at: www.ncbi.nlm.nih.gov/books/NBK1119/ (Accessed on June 23, 2015). Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.
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