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18 Jan 2011
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Gene A ½ Aa
Gene B ¾ resemble phenotypically
Gene C ½
Gene D all
Gene E ¾
So, multiply all five fractions 9/64
If the question asked will NOT phenotypically resemble the female parent? 1- 9/64 so
55/64
Resembling the male parent none will resemble the male parent phenotypically
LECTURE 03: molecular basis of genetic polymorphisms and their detection
Mendels laws of segregation from POV of present knowledge
DNA level
Mendel was looking at variation encoded at DNA level ultimately effecting protein level,
then affecting traits
Allelic differences can impact any part of the pathway
Mendel looked at phenotypic variation
SNPs single difference in DNA
Follow Mendels laws but no dominant or recessive allele at DNA because this is
the genotypic level (one exception)
GT heterozygote
Allelic variation generated by
Point mutations single change in DNA
Insertions/deletions
Changes in repeat number
Chromosomal rearrangements
Allelic variation that may end up leading to phenotypic variation
From POV of molecular biology
Gene ultimately leads into protein, which functions or confers a trait
Amino acid replacement mutation change in protein folded different, functioning
differently
Mutation in promoter region that blocks RNA transcription no protein effect on
phenotype
Figure 2-15: all possible spots that could lead to novel allele
Null alleles knock out function
Wild type normal
Intron if at splice site, protein structure may change but can also be null
No effect on phenotype
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oDNA level can have polymorphisms that do nor dont effect phenotype
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Document Summary

Resembling the male parent none will resemble the male parent phenotypically. Lecture 03: molecular basis of genetic polymorphisms and their detection. Mendel"s laws of segregation from pov of present knowledge. Mendel was looking at variation encoded at dna level ultimately effecting protein level, then affecting traits. allelic differences can impact any part of the pathway. Follow mendel"s laws but no dominant or recessive allele at dna because this is the genotypic level (one exception) point mutations single change in dna. allelic variation that may end up leading to phenotypic variation. gene ultimately leads into protein, which functions or confers a trait. amino acid replacement mutation change in protein folded different, functioning differently. mutation in promoter region that blocks rna transcription no protein effect on phenotype. Figure 2-15: all possible spots that could lead to novel allele.

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