3.1.4 Flashcards
sickle cell anemia
common genetic disease in areas where malaria is endemic
sense strand
the DNA strand that’s not transcribed
it has the same sequence of bases as mRNA molecule, but thymine replaced with uracil
which base is replaced by which in sense strand?
thymine is replaced by uracil
antisense strand
the transcribed strand—it’s complementary to the mRNA causes of sickle cell anemia
glutamic acid
amino acid….it’s the normal hemoglobin formed
valine
amino acid…it’s the mutant hemoglobin formed in sickle cell
hemoglobin
a protein found in red blood cells (erythrocytes) that carries oxygen throughout body
pleiotropy
when 1 gene has multiple effects
causes of sickle cell anemia
- base substitution mutation (GAG–> GTG in sense strand)
- change to the base sequence of mRNA transcribed (GAG–> GUG)
- corresponding change to sequence of polypeptide in hemoglobin
(glutamic acid–>valine in the 6th position)
what happens in sickle cell anemia (specific process)
- The gene HBB codes for beta subunit of hemoglobin
- standard Hb^A allele reads GAG on sense strand, and HB^s allele reads GTG in same location
- When HBB locus is transcribed, the mRNA from Hb^a has GAG for 6th codon–> translates to glutamic acid
- The mRNA copied from Hb^s has codon GUG–> codes for valine
- After initial mutation–> creates new allele
result of 1 specific base substitution in sickle cell anemia
the glutamic acid is substituted by valine as the 6th amino acid in the beta hemoglobin polypeptide