Documente Academic
Documente Profesional
Documente Cultură
I
IT I
Dmale
0 female
11 diseased
I 1 I pregnant
I II agender undetermined
DTO left born first
carrier parents Aa Aa
1
offspring AA Aa Aa a a
diseased
normal carrier
50 5
25
Pedigree chart
D O 17 0
btbto
o b lo do it
if it's AR child is atteited assume parents
are carriers
46
normally 23 pairs of chromosomes
trisomy Down's syndrome 3 chromosome M total 47
triploidy 69 chromosomes
y
Examples of Ak conditions
cystic fibrosis vsickle cell disease
phenylketonuria PKU
it it
O
it
II
itD
I I I DTO IT
0 I DTI
features
knight's move pattern not horizontal vertical
jumps around
no male to male
mostly 1 only males are affected
parents XDY XX
offsprings XY Xy Xd X X DX
normal boys carrier girls
son 0 affected
daughter i 100 carrier
Mendelian Inheritance
Atypical
Genetic Anticipation
As you go down the pedigree in successive generations 3
v increasing severity
earlier age of onset
mutation in
gene is presented as repeat sequence
when passing it on more repeat sequence
gets worse
examples
Huntington Disease CHP
fragile X syndrome
myotonia dystrophy
ITO
aoia.ua
1 I
asrepfaa.is
I
I 1
II arepeats
ageof onset
family with HD number a repeats
TO DTI
in
EH ETO a
ab O b I
eg Gilbert syndrome
carrier in 50
frequency
intermittent jaundice
dlt unconjugated hyperbillmblnemia
Mitochondrial Inheritance
much smaller genome several chromosome copies in
each mitochondria heteroplasm
circular
only 16 6 Kb reach certainlevel of heteroplasmy
manifest disease
37 genes
no introns
eg Leigh's disease
the affected mitochondrial DNA
MT ATP 6 genes
ATP
synthase
Donor egg
destroyed
healthy
mitochondria
Summary
Autosomal Dominant
vertical pattern
Autosomal resistant
horizontal pattern
equalfrequency severity in male female
carriers usually unattested
x linked recessive
NO male to male transmission
females unattested or
mildly affected
DH skewed X inactivation