3. The genomic structure of human beta globin is shown below. The numbers within

Question

3. The genomic structure of human beta globin is shown below. The numbers within the boxes indicate the length in nucleotides of each region. i) what is the length (in nucleotides) of the wild-type ?-globin primary RNA transcript (pre-mRNA)? a) ii) How many amino acids are present in the wild-type B-globin protein? b) Give the location of a mutation (ml) in the B-globin gene that would prevent RNA synthesis from the ß-globin gene. c) A base-pair substitution mutation (m2) indicated below, destroys the 3' splice site located in the first intron of the B-globin gene. exons ?-introns Transcription termination site (also poly A site) Start of transcription m2 ATG 50 90 130 850 132 "A" of codon AUG is +51 128 nt from first nt of exon 3 to first "A" of codon TAA i) Would the m2 mutation increase, decrease or not change the length of the primary RNA transcript (pre-mRNA) made from the mutant p-globin gene? Briefly explain your ii) Would the m2 mutation Increase, decrease or not change the length of the mature RNA transcript made from the mutant p-globin gene? Briefly explain your reasoning.

Explanation / Answer

3 a. I) the length of the wild-type beta-globin primary RNA transcript is 1600 long base ( 50+90+130+222+850+126+132=1600).

II) The number of amino acids present in the wild-type beta-globin protein is 146(438÷3).

b) Promoter.

C I) No change, this is before the mRNA is spliced.

II) Because the splice site is damaged, the intron remains and the mature mRNA is increased by 130 bases.

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