Questions from Genetics

Q: Achondroplasia is a rare form of dwarfism caused by an autosomal dominant

Achondroplasia is a rare form of dwarfism caused by an autosomal dominant mutation that affects the gene that encodes a fibroblast growth factor receptor. Among 1,422,000 live births, the number of ba...

Q: Lesch-Nyhan syndrome is due to a mutation in a gene

Lesch-Nyhan syndrome is due to a mutation in a gene that encodes a protein called hypoxanthine-guanine phosphoribosyltransferase (HPRT). HPRT is an enzyme that functions in purine metabolism. People a...

Q: Marfan syndrome is due to a mutation in a gene that encodes

Marfan syndrome is due to a mutation in a gene that encodes a protein called fibrillin-1. It is inherited as a dominant trait. The fibrillin-1 protein is the main constituent of extracellular microfib...

Q: Which data provide the strongest evidence that O1 is not the only

Which data provide the strongest evidence that O1 is not the only operator site?

Q: Sandhoff disease is due to a mutation in a gene that encodes

Sandhoff disease is due to a mutation in a gene that encodes a protein called hexosaminidase B. This disease has symptoms that are similar to those of Tay-Sachs disease. Weakness begins in the first 6...

Q: Describe the two assumptions that underlie the identification of disease-causing

Describe the two assumptions that underlie the identification of disease-causing alleles via haplotypes.

Q: What is the purpose of the International HapMap Project? How will

What is the purpose of the International HapMap Project? How will it help researchers who study disease-causing alleles?

Q: What is a prion? Explain how a prion relies on normal

What is a prion? Explain how a prion relies on normal cellular proteins to cause a disease such as mad cow disease.

Q: Some people have a genetic predisposition for developing prion diseases. Examples

Some people have a genetic predisposition for developing prion diseases. Examples are described in Table 25.6. In the case of Gerstmann-Straüssler-Scheinker disease, the age of onset is...

Q: Explain, at the molecular level, why human genetic diseases often

Explain, at the molecular level, why human genetic diseases often follow a simple Mendelian pattern of inheritance, whereas most normal traits, such as the shape of your nose or the size of your head,...