Reference no: EM133416421

Background information for reference:

Imagine that you are a geneticist at a hospital, and you are given a ?le for a patient who has the following history.

The patient, Jane Doe, is 30 years old. Her second pregnancy had to be terminated because the baby she was carrying had abdominal wall defects (exomphalos) as well as enlarged organs inside the abdomen (visceromegaly). In contrast, her first pregnancy was normal, and the baby was born without any complications. Her husband's family has no history of the condition and neither does her own family.

To gain insight into what the cause of the malformed baby could be, you order whole exome sequencing of the patient's DNA. You get back the results and find out that Jane is heterozygous at four loci (candidate genes 1-4); each with SNPs that are not common in the general population. Their sequences are found in the appendix. Your goal as a geneticist is to determine which gene has the causative mutation that led to her baby having the malformations and advise Jane about her options.

Questions:

To con?rm that Jane has a mutation in the suspected gene(s), what molecular technique could you use that doesn't involve sequencing?

Now that you have identified a candidate gene, you decide to test whether Jane Doe's husband, mother or father carry the mutation. What is the simplest way to test this?

It turns out that neither her husband nor her mother has the mutation, while her father does (he is also heterozygous). Since Jane inherited the mutation from her father, explain the mechanism of inheritance of the gene.

Why did the affected baby have phenotypes, while neither Jane nor her father, despite having the mutation, have any phenotypes?

If Jane wants to try and have another child, how would you advise that she proceed? What is are some reasonable solutions?