BIOL10003 Lecture Notes - Lecture 32: Cystic Fibrosis, Anemia, Blood Film

• School: University of Melbourne
• Department: Biology
• Course: BIOL10003
• Professor: All

Document Summary

1:25 are carriers, 1:2500 incidence in caucasians. Ctfr protein (cystic fibrosis transmembrane conductance regulator protein) important for cl- transport. F508 gene (deletion of phenylalanine in position 508 on chromosome 7) Tested by a guthrie sport test neonatally (heel prick), which tests for levels of trypsinogen: the concentration is elevated in babies with cf since pancreatic ducts are partially blocked leading to abnormal enzyme drainage. Pcr region of exon 10 with f508 deletion detected on a gel. Haemoglobin adults: 2 , 2 subunits (98%) and 2 , (cid:1006) su(cid:271)u(cid:374)its (cid:894)(cid:1006)%(cid:895); foetal: 2 , (cid:1006) su(cid:271)u(cid:374)its. Glo(cid:271)i(cid:374) 1. 5kb, 3 exons (gene), 500bp (rna), 146 amino acids (peptide) (cid:272)auses a defe(cid:272)ti(cid:448)e glo(cid:271)i(cid:374) affects the structure aggregation, changes shape of blood cell, so it (cid:272)a(cid:374)"t (cid:272)arr(cid:455) o(cid:454)(cid:455)ge(cid:374) as (cid:449)ell a(cid:374)d (cid:272)a(cid:374) (cid:271)lo(cid:272)k (cid:272)apillaries. De(cid:272)reases life spa(cid:374) of the blood cells to 20 days so results in anaemia. Heterozygous can have hba and hbs (codominant)