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Larry Sawchuk

HDN& GENETIC MARKERS 1. important diagram: o Genetic composition what kind of genes are present in a population (eg. Factors determine present gene: evolutionary force, mutation, natural selection, gene flow, and random genetic drift) o Genetic structure how genes are assembled (eg. Mating, random mating, assertive mating, inbreeding) o Biological variation knowing what genes are present and how they assembled will help us understand why the variation exist 2. what make a classic genetic marker (Mendelian trait)? o It’s a gene and DNA sequence with a known location on chromosome that can be used to identify individual or specie o Can be described as a variation that can be observed o No environmental modification o Polymorphic: 2 or more allele (eg. ABO blood group system) 3. Achondroplasia (The Roloff Family) 75% spontaneous mutation, 25% inherited o 1/26,000-1/40,000 births o Autosomal dominant mutation (only one gene from a parent have to affected in order for the child to be inherited)  eg. Carrier not possible: if allele is inherited, the trait will be expressed o However 75% cases born to average stature parents they are caused by new mutation “de novo mutation” o Where does the mutation occurs?  the gene on chromosome 4.  this mutation reduce the function of fibroblast growth factor receptor 3 4. blood type  classic genetic markers o There are 60 polymorphic blood types :ABO,Rh, MNs, Kell, Duffy, Lewis etc. o Some blood types are private to some family or some small groups of individuals 5. Duffy blood group system o The Duffy phenotypes are most common in black population o The absent of Duffy antigen in rbc make it relatively more resistant to malaria (p.vivax)  because the Duffy antigen is the receptor of p.vivax. o FY has two co-dominant allele: FYA and FYB 6. MN system o Two genes that encode MNs antigens, GYPA&GYPB are located at chromosome 4 o Gene GYPA has two co-dominant allele, M & N o Gene GYPB has codominant allele C&c o No antibody for MN system 5. ABO blood system o o eg. Let say you have typeA blood, and type B antibody, then if you are given typeB blood, your typeB antibody will fight with typeB blood. However, if you are gien typeO blood(no protein bond), nothing will happen o therefore, typeO universal donor/ but cannot receive any other blood type(because you will have A&B type antibody) o typeAB  universal recipient (you can get blood from any other types, bec
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