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Genetics Mnemonics

Chromosome 15 diseases Chromosome 15 has its own MAP:


Marfan syndrome
Angelman syndrome
Prader-Willi syndrome
Bartter syndrome: inheritance BARtter syndrome is
autosomal recessive (AR).
DNA probes available for prenatal dianosis "ABCD!"G#
Proes":
Al!ha gloin !roe: al!ha thalassaemia" !olycystic #idney
Al!ha 1 $% !roe: al!ha-1 anti-try!sin deficiency
Beta gloin !roe: eta thalassaemia" sic#le cell anaemia
C&%C' !roe: cystic firosis
Dystro!hin !roe: (uchenne)s modystro!hy
!normous C$* re!eat !roe: +untington)s disease
"actor ,--- !roe: haemo!hilia $
G+ !roe: growth hormone deficiency
#emochromatosis !roe: hemochromatosis
P$+ !roe: !henyl#etonuria
N$cleotides: do$ble vs% triple bonded basepairs "&'
onds" (two onds):
&-$ and '-$ have &(o onds.
*-C therefore has the three onds.
Codons: nonsense m$tation ")top tal#ing nonsense.":
Nonsense mutation causes !remature stop.
DNA: * vs% B form: (hich is inactive **** is slee!ing
(inactive).
B form is therefore active (/$.
N$cleotides: p$rines "AG'A P'Ra":
Adenine and G'Anine are P'Rines.
0 "$gua !ura" is s!anish for "!ure water".
#$rler+s syndrome: symptoms B,'"":
Blind (corneal o!acity)
,ittle (dwarfish)
'gly (coarse facial features)
"ool (mental retardation
"ailures (failure to thrive and hear failure secondary to coronary artery
disease)
Achrondroplasia d(arfism: inheritance pattern Achondro!lasia
Dwarfism is Autosomal Dominant.
Marfan syndrome feat$res MAR"AN+):
Mitral valve !rola!se
Aortic Aneurysm
Retinal detachment
"irillin
Arachnodactyly
Negative Nitro!russide test (differentiates from homocystinuria)
)ulu1ated lens
-mprintin diseases: Prader./illi and Anelman "Pray
to an Anel":
Prader-Willi and Anelman are the 2 classic im!rinting diseases.
0 Which disease results" de!ends on whether 153 deletion is maternal or
!aternal. 4ee! them straight y:
Paternal is Prader-Willi.
Do(n syndrome patholoy D0/N:
Decreased al!ha-feto!rotein and uncon5ugated estriol (maternal)
0ne e1tra chromosome twenty-one
/omen of advanced age
Nondis5unction during maternal meiosis
#$rler syndrome feat$res #'R,!R+):
#e!tos!lenomegaly
'gly facies
Recessive ($' inheritance)
,-iduronidase deficiency (al!ha)
!yes clouded
Retarded
)hort6 )tuy fingers
&ay )ach+s feat$res )AC#):
)!ot in macula
Ash#ena7ic 8ews
C/9 degeneration
#e1 $ deficiency
)torage disease
0 :1tra details with &A1:
&esting recommended
Autosomal recessive6 Amaurosis
1oung death (;< yrs)
Do(n syndrome feat$res: complete "=y C#-,D #A) PR0B,!M.":
Congenital heart disease6 Cataracts
#y!otonia6 #y!othyroidism
-ncure 5th finger6 -ncreased ga! etween 1st and 2nd toe
,eu#emia ris# 126 ,ung !rolem
Duodenal atresia6 Delayed develo!ment
#irshs!rung)s disease6 #earing loss
Al7heimer)s disease6 Alantoa1ial instaility
)3uint6 )hort nec#
Protruding tongue6 Palm crease
Round face6 Rolling eye (nystagmus)
0cci!ut flat6 0li3ue eye fissure
Brushfield s!ot6 Brachyce!haly
,ow nasal ridge6 ,anguage !rolem
!!icanthic fold6 !ar folded
Mental retardation6 Myoclonus
AP2D: enetics ADult >olycystic 4idney (isease is
Autosomal
Dominant
0 $lso" ">olycystic #idney" has 13 letters and is due to a defect on
chromosome 13.
DiGeore4 5elocardiofacial syndrome: feat$res CA&C# 66:
Cardiac anormalities
Anormal facies
&hymic a!lasia
Cleft !alate
#y!ocalcemia
66311 deletion
N$cleotides: p$rines vs% pyrimidines "Guardian Angels
are P$re" with two /ins":
G and A are P$rines" with two Rins.
!7on vs% intron f$nction !7ons !7!ressed.
-n&rons -n &rash.
N$cleotides: class havin the sinle rin 0 ">yrimadines are
C'& from !urines"
0 >yrimidines are:
Cytosine
'racil
&hiamine
%hey are c$tfrom !urines so the !yrimadines must e smaller (one ring).
Pediree symbols: ender and affected *ender: %he c-Rcle
is a g-Rl ?so oys are s3uares@.
$ffected: Blac8 pla$e was a disease" so blac8-filled
symol means an affected4diseased !erson ?so non-filled-in is
unaffected@.
Cell cycle staes "Go )ally Go. Ma#e
Children.":
G1 !hase (*rowth !hase 1)
) !hase ((/$ 9ynthesis)
G2 !hase (*rowth !hase 2)
M !hase (=itosis)
C!hase (Cyto#inesis)
#ardy./einber e9$ilibri$m: ca$ses for deviations from it "Maggie
May Does Not )mo#e":
Mutations
Migration
Drift
Non-random mating
)election
&$mor s$ppressor vs% proto.onoene m$tations: recessive vs% dominant
"Recess )$ppress":
%umor s$ppressor mutations are recessive.
>roto-oncogenes are o!!osite (dominant).
Blots: f$nction of )o$thern vs% Northern vs% /estern ")NA/
DRAP":
0 =atch u! the 1st word letter with 2nd word letter:
)outhernBD/$
NorthernBR/$
/esternBProtein
0 %he A)s in snow dro! are 7eros" since there is no :astern lot.
Pyrimidines n$cleotides "C'& the P1" (cut the
!ie):
Cytosine
'racil
&hiamine
are the P1rimidines
Cri.d$.chat syndrome: chromosomal deletion ca$sin it is 5p:.;
What)s another name for a cat that)s five letters long and starts
with a PC ($nswer: !ussy).
Why is the cat cryingC Missin its P.
N$cleotides: (hich are p$rines "P$re )ilver":
0 Chemical formula of P$re silver is A.
%herefore" P$rines are Adenine and Guanine.