Question 4 (4 pts) The data in the graph below show the DMD deletions found among 356 Japanese individuals with DMD. Essentially no deletions of the last 20 exons (red dotted box) were found among the DMD patients. Vhat are two different ways to interpret these data ith respect to the role of the C-terminal region of he dystrophin protein?Note: you do not need to answer any questions on the following parges: A woman (I2), with an older brother (11) who had advancedstage Duchenne Muscular Dystrophy, brought her daughter (II-1) in for a checkup with her pediatrician after she started showing the familiar symptoms of DMD. The daughter had very high serum CK levels and the mother's CK levels were consistent with her being a DMD carrier. Because the child's uncle had DMD, the doctor focused on dystrophin as the likely cause of the daughter's doctor focuscd on dystrophin as the likely cause of the daughter's data, can you explain how this daughter ended up with DMID? Fint: The genetic counselor performed karyotype analysis of the daughter and found an unremarkable 46. XX karyotype and detected random X chromosome inactivation patterns. Second: The counsclor recommended array Comparative Genome Hybridization. The data for aCGH analysis are presented below.Third: The genetic counselor performed RFLP analysis at five loci that spanned the region between exons 41 and 51 using probes from each of the five labeled exons shown below. The essential features of the Southern blots are shown to the right.Fourth: The genetic counselor performed targeted capture and next-generation sequencing on DNA from the mother and her daughter One new sequence recovered from the mother was 5'-AAGCTAGGCCTCTTGCAATAGGTCTGTTGACAGT-3;. It matched no sequence in the human reference sequence but the two halves of the sequence matched places in the DMD gene as shown below. All other sequences from the mother's DMD genes matched the human reference sequence. The daughter's sequence matched the novel sequence identified in her mother 5'-AAGCTAGGCCTCTTGCAATAGGTCTGTTGACAGT-3'. The daughter had a second novel sequence 5'-CATGTCGGTGACCTGCCTATTGTGGCGTAGCGGT- 3'. It matched no sequence in either parent but the two halves of the sequence matched places in the DMD gene shown above. All other sequences from the daughter's DMD genes matched the human reference sequence..

1. Question 4 (4 pts) The data in the graph below show the DMD deletions found among 356
Japanese individuals with DMD. Essentially no deletions of the last 20 exons (red dotted box)
were found among the DMD patients. Vhat are two different ways to interpret these data ith
respect to the role of the C-terminal region of he dystrophin protein?Note: you do not need to
answer any questions on the following parges: A woman (I2), with an older brother (11) who had
advancedstage Duchenne Muscular Dystrophy, brought her daughter (II-1) in for a checkup with
her pediatrician after she started showing the familiar symptoms of DMD. The daughter had very
high serum CK levels and the mother's CK levels were consistent with her being a DMD carrier.
Because the child's uncle had DMD, the doctor focused on dystrophin as the likely cause of the
daughter's doctor focuscd on dystrophin as the likely cause of the daughter's data, can you explain
how this daughter ended up with DMID? Fint: The genetic counselor performed karyotype analysis
of the daughter and found an unremarkable 46. XX karyotype and detected random X
chromosome inactivation patterns. Second: The counsclor recommended array Comparative
Genome Hybridization. The data for aCGH analysis are presented below.Third: The genetic
counselor performed RFLP analysis at five loci that spanned the region between exons 41 and 51
using probes from each of the five labeled exons shown below. The essential features of the
Southern blots are shown to the right.Fourth: The genetic counselor performed targeted capture
and next-generation sequencing on DNA from the mother and her daughter One new sequence
recovered from the mother was 5'-AAGCTAGGCCTCTTGCAATAGGTCTGTTGACAGT-3;. It
matched no sequence in the human reference sequence but the two halves of the sequence
matched places in the DMD gene as shown below. All other sequences from the mother's DMD
genes matched the human reference sequence. The daughter's sequence matched the novel
sequence identified in her mother 5'-AAGCTAGGCCTCTTGCAATAGGTCTGTTGACAGT-3'. The
daughter had a second novel sequence 5'-CATGTCGGTGACCTGCCTATTGTGGCGTAGCGGT-
3'. It matched no sequence in either parent but the two halves of the sequence matched places in
the DMD gene shown above. All other sequences from the daughter's DMD genes matched the
human reference sequence.