A patient has had multiple miscarriages within the first trimester. A sample of the conceptus is sent to the genetics lab for molecular cytogenetic analysis. After completion of the analysis, you are sent a link to the genomic location of the region that likely contains the mutation in the associated image (centered on the likely region containing the mutation). From the information in the image, answer the following questions (3 pt).
i)Which chromosome and region (arm) contains the mutation?
ii)Which candidate genes or region (bp) within the chromosome would you focus sequencing efforts on to find the mutation?
iii)Why is the SINE signal low in the central region of the genome of interest?
iv)What does the layered H3K27ac signal/track inform you of?
v)Why is the common SNP track essentially solid/full while 15 years ago is was much less so?
vi)Why is there no signal for satellite repeating elements in the region of interest?
Sample Solution
