the function of skeletal muscles used for movement and cardiac muscles used for heart beating.  Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle.  Some forms of muscular dyst

Aquaculture Science
3rd Edition
ISBN:9781133558347
Author:Parker
Publisher:Parker
Chapter4: Management Practices For Finfish
Section: Chapter Questions
Problem 23SA
icon
Related questions
Topic Video
Question
100%

Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating.  Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle.  Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene.  Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1).  The actual DMD mRNA is about 16,000 base-pairs!

------

Consider single nucleotide polymorphism (SNP) #1 (Figure 1). 

Is this mutation likely to cause Duchenne muscular dystrophy to develop?

Explain your reasoning. Indicate what the effect of the mutation would be on the protein synthesized from the affected sibling's gene.

EXON
intron
EXON
5'-acgcggtctatattagctcaCAAGATGTACTTTGCGACAAGAGAGgtaagtcttgtccagGATCCCATCTGTGCGACTTGAACG(terminator)-3'
3'-tgcgccagatataatcgagtGTTCTACATGAAACGCTGTTCTCTCcattcagaacaggtcCTAGGGTAGACACGCTGAACTTGC(terminator)-5'
个
Transcription
Start Site (+1)
#1
# 2
A>G
#3
#4
#5
g>a
C>A
a>t
G>C
Transcribed Image Text:EXON intron EXON 5'-acgcggtctatattagctcaCAAGATGTACTTTGCGACAAGAGAGgtaagtcttgtccagGATCCCATCTGTGCGACTTGAACG(terminator)-3' 3'-tgcgccagatataatcgagtGTTCTACATGAAACGCTGTTCTCTCcattcagaacaggtcCTAGGGTAGACACGCTGAACTTGC(terminator)-5' 个 Transcription Start Site (+1) #1 # 2 A>G #3 #4 #5 g>a C>A a>t G>C
Expert Solution
trending now

Trending now

This is a popular solution!

steps

Step by step

Solved in 2 steps

Blurred answer
Knowledge Booster
Mitochondrial mutations
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.
Similar questions
  • SEE MORE QUESTIONS
Recommended textbooks for you
Aquaculture Science
Aquaculture Science
Biology
ISBN:
9781133558347
Author:
Parker
Publisher:
Cengage