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HMB265H1 (242)

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Human Biology
Stephen Wright

Gene A Aa Gene B resemble phenotypically Gene C Gene D all Gene E So, multiply all five fractions 964 If the question asked will NOT phenotypically resemble the female parent? 1- 964 so 5564 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 Insertionsdeletions 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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