# Actice: Mutations - A -P--I--3--H--N--R--6--8- --11--11-- - ----- CGI GATTIOTITATITCATCCARAGATCTGGGC ATGACHATAGCTATCTACH --6-- -F-- - --5--5--K -3...

###### Question:

Actice: Mutations - A -P--I--3--H--N--R--6--8- --11--11-- - ----- CGI GATTIOTITATITCATCCARAGATCTGGGC ATGACHATAGCTATCTACH --6-- -F-- - --5--5--K -3 -4--G-- ----y--5--4--1--0 -- -- SOBOTACECCO THACACOLAGACICITITCAAGACTACATTAASTCCTATTTGGAACAAGCGAC CG 3 -D-P-- -- -- - -- -- --I--K -3-wY--1-- --0-- --3--2 MES CATCH.CCTCRIGGST SELCATOGICCITGGGGCCGCGADGGLAGGCGCSGTCC CACHGCOCTOCT 3GC --3-- -- -- -- -- -- - - -- 173 W 179 AGGCT GTGAGTT AGTIGCTGIGTCGI CACAAGAGAAAGCAGCTCCTGAAGAARSCAGOGI -s--1 -1 - 6 -R- -11--1--2--3--0--I -F - 6--6--8--0--p RTCCTCATCCAGAAGAGGA TACCACAGCHET 13 -1 1 -- --3--R-- -- - BAGGATACCACAGTGTATORGAGCCWT TATAA........ -- -- -- - - -- -- - Y-- - -- -- -- -- -- -- A person known to have albinism has a homozygous 1-basepair insertion in Exon 2 of the TRY gene. This mutation results in a premature STOP codon after amino acid residue #298. i What does "homozygous" mean in this problem? Having two identical alleles of a particular gene How many copies of the TYR gene are affected in this scenario? iii. How does this mutation result in a premature STOP codon? b. A person known to have albinism has a heterozygous mutation that results in pro81-lue substitution that interferes with normal folding of the tyrosinase protein. i. What does "heterozygous" mean in this problem? . How many copies of the TYR gene are affected in this scenario? iii. Do you think this person has a complete or partial lack of pigment? Explain your reasoning. tr = y = k, pro = P, led = [. C. Do people with albinism have the TYR gene? Do people without albinism have the TYR gene?
0201 720(1).pdf Exam II Practice: Mutations III. Imagine that a different mutation in the TYR gene results in half of Exon 3 being abnormally spliced out. Refer to this gene as TYR-splice The wild-type version of the TYR gene is referred to as TYR The TYR gene containing the frameshift mutation is referred to as TYR- You are being asked to compare the size of each macromolecule (DNA, mRNA and protein) of the two mutant TRY genes with the wild-type gene. Look at the blank spaces in the table that are not shaded. Each box gets filled in with a “yes” or “no” Consider the... What is the size of the TYR- compared to the TYR-WT ? What is the size of the TYR-splice compared to the TYR-WT? It is It is the same size as the It is bigger than the It is the same size as the wild- type It is smaller than the wild It is smaller than the wild-type bigger than the

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