Class Notes (835,029)
Canada (508,881)
BIOL207 (111)
Lecture 15

BIOL 207 (10/18/13) Lecture 15 and 16: Human Pedigree Analysis - Part 1 and 2

4 Pages
73 Views
Unlock Document

Department
Biology (Biological Sciences)
Course
BIOL207
Professor
Mike Harrington
Semester
Fall

Description
BIOL 207 (October 18, 2013) Lecture 15: Human Pedigree – Part 1 (con’t)  I-Clicker Question: A husband and wife both have achondroplasia. What is the probability that their first child will also have this condition? o Answer: 0.67 o Why not 0.5?? Because we are assuming that this child is viable. Being homozygous for the mutant AND dominant allele results in non-viable offspring. Diagram below: Representative XR Pedigree Chart  If father is affected: o Sons will not be affected o Daughters will be carriers  If mother is a carrier: o Sons may or may not be affected o Daughters may or may not be carriers  Example: Hemophilia A o F8 gene @ Xq28 encodes for a blood clotting factor (called VIIIC)  A mutation on this gene results in inability for body to clot blood.  Internal and external bleeding will not stop! o There is a recombinant human factor VIIIC on the market that allows for blood coagulation.  Life expectancy of people with hemophila increased from 1.5 years to 65 years (19002000) because of this. o Mutation is recessive because the heterozygous genotype in females still allows for “generally” normal blood coagulation (maybe easy to bruise, takes a while for cuts to stop bleeding) X-Linked Dominant  A = mutant allele  a = WT allele A  X /Y = affected male  X /X and X /X = affected females  Affected father? o Sons are unaffected o Daughters are affected  Affected Mother o Sons may or may not be affected o Daughters may or may not be affected  Example: Fragile X Syndrome (aka FMR = fragile mental retardation) o FMR1 gene @ Xq27 (no need to remember gene names and locations for exams as they will be provided)  Encodes for a protein needed for neuron development  FMR1 (WT allele)  (CGG) nases are repeated < 200 times -  FMR1 (mutant allele
More Less

Related notes for BIOL207

Log In


OR

Join OneClass

Access over 10 million pages of study
documents for 1.3 million courses.

Sign up

Join to view


OR

By registering, I agree to the Terms and Privacy Policies
Already have an account?
Just a few more details

So we can recommend you notes for your school.

Reset Password

Please enter below the email address you registered with and we will send you a link to reset your password.

Add your courses

Get notes from the top students in your class.


Submit