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Identify at least one trait or phenotype associated with TSHB gene; explain how

ID: 266238 • Letter: I

Question

Identify at least one trait or phenotype associated with TSHB gene; explain how it is different from wild-type. (the trait can include diseases/medical conditions) •

Compare the wild type allele to the “variant” which is the mutant or polymorphic allele(s) that produce the phenotype you selected. (Missense? Nonsense? SNP? Gain of function? Loss of function? Etc)

• Discuss how the trait, via the allele you just described, is inherited. This may be simple dominant/recessive, autosomal vs sex-linked,

or “non-Mendelian,”

or complex,

This is where you would discuss penetrance, expressivity (if relevant), and whether the trait is CAUSED vs INFLUENCED by your chosen allele or polymorphism.

Explanation / Answer

The TSHB gene provides instructions for one piece of hormone called thyroid stimulating hormone. The protein encoded by this gene is the beta sub unit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism.

one disease cuased with respect to thyroid gland is Hashimoto's disease. Underactive thyroid caused by Hashimoto's disease can lead to a number of health problems like goiter, heart problems, mental health issues, myxedema etc. It is an autoimmune disorder in which body's immune system creates antibodies that damage the thyroid gland.

Reason: A combination of factors including heredity, sex and age may determine the likelihood of developing the disorder.

Heredity factor: a person is at higher risk if others in the family have thyroid or other autoimmune disorders. It is a non-mendelian disorder.