BMS 607 Lecture Notes - Lecture 9: Myc, P53, Abo Blood Group System

• School: Ryerson University
• Department: Biomedical Sciences
• Course: BMS 607
• Professor: Sarah Sabatinos

Document Summary

1932: suggested that (cid:373)uta(cid:374)ts (cid:272)a(cid:374) a(cid:374)d should (cid:271)e (cid:272)lassi ed relati(cid:448)e to their a(cid:272)ti(cid:448)ity; 5 di ere(cid:374)t classes. Amorph/nullomorph, hypomorph, hypermorph, antimorph, neomorph loss of function mutations are generally recessive, gain of function mutations are generally dominant. Amorph/nullomorph: most common class loss/deletion of function internal deletions, early frameshift, missense early (or key point) (cid:862)(cid:374)ull(cid:863) allele is (cid:272)o(cid:373)plete a(cid:271)se(cid:374)(cid:272)e - k(cid:374)o(cid:272)kouts are (cid:862)ge(cid:374)eti(cid:272)ally (cid:374)ull(cid:863) is the same whether homozygous or heterozygous to a deletion- m/m = m/df. Ex. h gene in abo blood groups- it cannot bind to a or b antigens. Partial loss of gene function, most are recessive but haploinsufficiency is possible. M/m < m/df (more severe)- and, if overexpressed, m/m/m indicates strength in allelic series, > indicates severity of mutation in amorphs and hypomorphs. Null mutations complete loss-of-function: knockouts can be made by gene-targeting.