Globin_mutations

Globin_mutations - Genetics of Globins J.L Marsh 137B...

Info iconThis preview shows pages 1–3. Sign up to view the full content.

View Full Document Right Arrow Icon
Genetics of Globins ©J.L Marsh 137B 11/8/06 Page 1 GENETICS OF HUMAN GLOBINS - Analysis of mutations provides - Information about function of particular sequences - Anthropological information about mating - - hemoglobinopathies = we will consider 3 Types of mutations 1= unequal cross over 2= Base substitutions 3= deletions 1] Rare unequal XO s Hb Lepore = δ /ß fusion - If get δ promoter, too little protein & anemia - If get ß promoter = AntiLepore Not severe clinically + Hybrid protein can function Level is a bit low because lack 3' tissue specific enhancer Hb Kenya = A γ /ß fusion Hb Gun Hill GCTGCACtGt. ...gacaa. ..GCTGCACGTG Delete 15 nucleotides = 5 aa Note: Duplication is not described!! Not clinical?? 2] BASE SUBSTITUTIONS 2a = Missense Mutations = substitute one aa for another - 1/2 of all amino acids have been mutated but most have no effect Sickle cell trait = 2 types = A specific missense mutation Both = mutations at aa #6 in ß chain (Glu -> Val = HbS; -> lys = HbC) Pathology 1] Destruction of RBCs normal t1/2 = 3mo HbS/S = 20d ANEMIA tired Dilation of heart overactive marrow -> tower skull 2] Plugging of capillaries & failure of blood supply - heart damage (like stroke) - Kidney damage - Rheumatism bkz muscle & joint damage - lung damage = opportunistic pneumonia - brain damage -> paralysis - gut damage = abdominal pain - Bone pain during crisis - low reproductivity 3] RBCs in spleen = enlarged spleen
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Genetics of Globins ©J.L Marsh 137B 11/8/06 Page 2 - fibrosis Homozygotes = sickle cell disease Carriers have trait
Background image of page 2
Image of page 3
This is the end of the preview. Sign up to access the rest of the document.

Page1 / 6

Globin_mutations - Genetics of Globins J.L Marsh 137B...

This preview shows document pages 1 - 3. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online