Bob and Linda are a newly married couple. They hope to have a child but are having trouble getting pregnant. They visit a fertility clinic, where they receive genetic tests. One test shows that Bob is healthy but carries a single disease-causing allele for CFTR (the gene that can cause cystic fibrosis), but Linda does not. What type of genetic test was performed?

Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder with a major genetic component. ADHD is polygenic. In 2023, scientists examined  38,691 individuals with ADHD and 186,843 without ADHD. The scientists identified variants in 76 genes that were correlated with ADHD. These are considered risk variants. To develop ADHD does an individual’s genome need to have risk variants in all 76 genes? [No] Could one or more of these risk variants be found in the genomes of someone without ADHD? [Yes]

Identify all of the following choices that are examples of causes of induced mutations.

On December 8, 2023 the FDA approved Lyfgenia, a second gene therapy for sickle cell disease. We did not discuss Lyfgenia in class and it does not involve CRISPR Cas9 gene editing. Instead, it uses gene therapy to deliver a modified version of the gene that encodes the hemoglobin protein to RBCs. This modified version of the hemoglobin gene produces hemoglobin protein that has an anti-sickling effect on red blood cells, even if these cells are also expressing the mutant hemoglobin protein. A serious side effect of Lyfgenia is leukemia, a type of blood cancer. Patients receiving Lyfgenia should have lifelong monitoring for such cancers. What vector does Lyfgenia most likely use to deliver the modified hemoglobin gene?

The 2023 Guardian article discusses the positive impacts of delaying fatherhood on children’s health, with older fathers contributing 1-2 fewer SNPs/year than younger fathers.   

Scientists have discovered genetic variants that are associated with dyslexia.

Most cases of trisomy 21 occur because of an error in which meiotic division?

Choose the best answer from the choices below. A couple has a child with cystic fibrosis. Neither parent has cystic fibrosis. This couple wants to have a second child. What is the probability that this second child will have cystic fibrosis?

The pedigree below follows the inheritance of a rare disease in a family. This disease is characterized by weak bones, as well as other symptoms.  This pedigree most likely shows the inheritance of what kind of gene? Choose the best answer from the choices below.

Bob and Linda are a newly married couple. They hope to have a child but are having trouble getting pregnant. They visit a fertility clinic, where they receive genetic tests. One test shows that Bob is healthy but carries a single disease-causing allele for CFTR (the gene that can cause cystic fibrosis), but Linda does not. What type of genetic test was performed?