Mutations in the HPRT1 gene in humans result in atleast two clinical syndromes. Consult OMIM (www.omim.org) by querying HPRT1; you will only needto look briefly at the top three hits (files #300322,300323, and 308000).a. What is the full name of the HPRT1 enzyme?b. On which chromosome is the HPRT1 gene located?c. Mutations in HPRT1 are associated with two different syndromes. What are these syndromes? Foreach, answer the following questions: (i) What arethe symptoms associated with the syndrome? (ii) Isthe mutant allele that causes the syndrome dominant, recessive, codominant, or incompletely dominant with respect to the normal allele, or do specialconditions apply? (iii) Is the syndrome associatedwith a loss-of-function or a gain-of-function disease allele? (iv) Does the syndrome display allelicheterogeneity? (v) Does the syndrome display locus heterogeneity? (Note: You do not need to understand everything in the OMIM entries to answerthese questions.)
Mutations in the HPRT1 gene in humans result in at
least two clinical syndromes. Consult OMIM (www
.omim.org) by querying HPRT1; you will only need
to look briefly at the top three hits (files #300322,
300323, and 308000).
a. What is the full name of the HPRT1 enzyme?
b. On which chromosome is the HPRT1 gene located?c. Mutations in HPRT1 are associated with two different syndromes. What are these syndromes? For
each, answer the following questions: (i) What are
the symptoms associated with the syndrome? (ii) Is
the mutant allele that causes the syndrome dominant, recessive, codominant, or incompletely dominant with respect to the normal allele, or do special
conditions apply? (iii) Is the syndrome associated
with a loss-of-function or a gain-of-function disease allele? (iv) Does the syndrome display allelic
heterogeneity? (v) Does the syndrome display locus heterogeneity? (Note: You do not need to understand everything in the OMIM entries to answer
these questions.)
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