BIOC15H3 Lecture Notes - Lecture 2: Neurospora Crassa, Phenylalanine Hydroxylase, Alkaptonuria
16 Dec 2013
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We can detect and how a gene is acting by evidence of what we see of something else changing (a different of protein, a metabolism that is changing, a change in development) of the gene. Can look at the level of the gene by asking about the function. If you have a normal biochemical pathway (normal gene. Change in dna ( abnormal gene abnormal gene product); biochemical pathway is altered. If a parent brings a small patient into the doctor, small patient says she has urine that turns black. This is considered a disorder (not normal); alkaptonuria. Block in the pathway homogentistic acid (ha) accumulates. Disorder that is connected (similar) to the pathways of alkaptonuria. Omim 261600: by linkage mapping, they demonstrated that the diagnosis, clinical management, mcdonald et al. (1990) isolated mutant mice exhibiting. Grandchildren: 25% pphh, 25% pphh, 25% pphh, 25% Pedigree is done in diamonds because sex is unknown. When doing genetics problem do not assume most.
