Suppose a man and a woman are each heterozygous carriers of a mutation causing a fatal hereditary disease not on the RUSP list. Prenatal genetic testing can identify the genotype of a fetus with regard to this disease and can identify fetuses with the disease. What do you think are the three or four most important factors this couple should consider in their decision making about having children?

Some proteins are composed of two or more polypeptides. Suppose the DNA template strand sequence 3′-TACGTAGGCTAACGGAGTAAGCTAACT-5′ produces a polypeptide that joins in pairs to form a functional protein. What is the amino acid sequence of the polypeptide produced from this sequence?
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If you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-β-glucosidase, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.
For each mutation, speculate about whether the acid-β-glucosidase enzyme is merely reduced in function or whether its production is eliminated, and explain why.
If you were to look up Gaucher disease on the OMIM website, you would see that there are three major types, designated Type I (OMIM 230800), Type II (OMIM 230900), and Type III (OMIM 231000). All three types are mutations of the gene for acid-β-glucosidase, encoded on chromosome 1. Different mutations of this gene produce the three types of Gaucher disease that differ somewhat in their symptoms and disease severity.
Thinking about the production or function of the acid-β-glucosidase enzyme, why do you suppose different mutations of this gene produce differences in symptoms and disease severity?
Some proteins are composed of two or more polypeptides. Suppose the DNA template strand sequence 3′-TACGTAGGCTAACGGAGTAAGCTAACT-5′ produces a polypeptide that joins in pairs to form a functional protein.
What term is used to identify a functional protein like this one formed when two identical polypeptides join together?
In the experiments that deciphered the genetic code, many different synthetic mRNA sequences were tested.
Describe how the codon for phenylalanine was identified.
In the experiments that deciphered the genetic code, many different synthetic mRNA sequences were tested.
What was the result of studies of synthetic mRNAs composed exclusively of cytosine?
