step1mom
Forum Senior
Topics: 32
Posts: 64
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in duchene,the genetic `defect is deletion or point mutation and then dna coding frameshift that produces a stop codon and no protien made
in beckers,there is also deletion but no frameshift so protien is made but truncated...nonfunctional.plzz correct
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| drkaur
Forum Junior
Topics: 1
Posts: 56
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yes u r right
DMD =Doesn't make dystropin
BMD=badly made dystropin
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| CampNou
Forum Junior
Topics: 0
Posts: 33
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Duchenne's MD is a Frameshift mutation
Becker's MD is an In-Frame mutation
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| karusmle
Forum Guru
Topics: 296
Posts: 1,001
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YES
THAT IS AN IMPORTANT POINT WHAT CAMPOU MENTIONED ..................
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| drvic
Forum Elite
Topics: 10
Posts: 181
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all dystrophinopathies have either intragenic deletions or duplications or point mutations.
in Duchenne's 30% cases are new mutations and the mother is not a carrier
in Becker's 80% of patients have a reduction in molecular weight of dystrophin, in 15% its of normal size but reduced in quantity, and 5% have abnormally large protein due repeated duplications of codons...
Phenotypic or clinical variations are explained by the alteration of the translational reading frame of mRNA, which results in unstable, truncated dystrophin molecules and severe, classic Duchenne dystrophy;
mutations that preserve the reading frame still permit translation of coding sequences further downstream on the gene and produce a semifunctional dystrophin, expressed clinically as Becker muscular dystrophy.
hope this helps
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