more genetic diseases caused by chromosomal abnormalities

what causes the formation of the Philadelphia chromosome

translocation of material between chromosome 9 and 22

BCR gene remains on 22, ABL is translocated from 9 to 22 forming the philadelphia chromosome

what does the Philadelphia chromosome cause

chronic myeloid leukaemia

what causes cystic fibrosis

mutations in the CFTR gene

what is the CFTR gene

a gene that is 180,000 base pairs long found at q31.2 on chromosome 7

it generate a protein that is 1480 amino acids long

what’s the most common mutation resulting in cystic fibrosis

ΔF508 - a deletion of three nucleotides that results in a loss of one amino
acid (phenylalanine) at position 508

what causes sickle cell disease?

A is changed to T at position 17of the gene for the beta chain of haemoglobin- changes codon fromglutamic acid to valine

what does sickle cell disease cause

low number of red blood cells (anemia), infection and pain