Usher syndrome is a rare genetic condition that is primarily characterized by deafness as a result of the impaired transmission of sensory input to the brain by the inner ear and auditory nerves, along with retinitis pigmentosa (RP), which eventually results in retinal degeneration and progressive vision loss, eventually leading to legal blindness. Deafness caused by the sensorineural nerve may be progressive or minor. The visual impairment brought on by RP may start in childhood or later in adulthood, and it frequently manifests itself at first as trouble seeing at night or in dim light (night blindness).
(a) If the sequence is correct, the researcher looks for possible trans-heterozygosity cases in the data already collected to try to identify the diseased gene; in other words, they look at the genes to see if both alleles are mutant but in different ways.
(b) The possible pitfall of this approach is that, outside of the coding areas, it can be challenging to know what to look for throughout the entire genome.
The question is incomplete. The complete question is;
A researcher sequences the whole exome of a patient suffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading cause of simultaneous deafness and blindness. The exome sequence does not show homozygosity for any poly- morphisms different from the human RefSeq.
a) How could the researcher examine the data already gathered to try to find the disease gene, assuming the sequence is accurate?
b) If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencing the patient's whole genome. What are the potential pitfalls of this strategy?
Want to know more about different syndromes visit;
https://brainly.com/question/9782041
#SPJ4