I found this while I was going through the files on my laptop.

I got it
from around the forum here a couple of months ago....I cant remember who posted
this collection of Genetics Calculations and high yield points...but guys, its i
ncredible..I thought I would post it so that everyone could make use of it. If a
nyone remembers who posted this before, let us know so we can give him his due c
redit and our thanks! :)
Good luck everyone with your studies
GENETICS CALCULATION QQQ
A woman who has two brothers with hemophilia A and two normal sons is again preg
nant. She requests counseling for the risk of
her fetus to have hemophilia. What is the risk that her next child will have hem
ophilia?
a. 1
b. 1/2
c. 1/4
d. 1/8
e. 1/16
Ans is dddd
Probability that she is carrier
Probability that she is going to transfer gene is
Probability that the baby boy will get the ds is
So net probability is 1/2 x1/2 x1/2=1/8
The parents of a girl with Tay-Sachs disease decide to pursue bone marrow transp
lantation in an attempt to provide a source for the missing lysosomal enzyme. Pr
eliminary testing of the girl's normal siblings is performed to assess their car
rier status and their human leukocyte antigen (HLA) locus compatibility with the
ir affected sister. What is the chance that one of the three siblings is homozyg
ous normal (i.e., has a good supply of enzyme) and HLA-compatible?
a. 1/2
b. 1/3
c. 1/4
d. 1/6
e. 1/12
Ans::
chance of being homozygous normal = 1/3
chance of having same HLA pattern as sibling = 1/4
chance of having both together = 1/3 * 1/4 = 1/12 2 siblings who inherit the sam
e two HLA chromosomes (haplotypes) from their parents will be HLA identical. The
re is a one in four chance that this will occur=1/4
chance of being homozygous normal = 1/3
1/4^1/3=1/12
A mother has XYZ syndrome{AD}her husband is unaffected and they plan to have a f
amily with three children.what is the probability that one of the three children
will be affected?
A.1/8
B.1/4
C.3/8
D.1/3
E.7/8
wow! DR.ANGINA
thanks for very good explaination!
YOU MAKE HARD QUESTIONS BECOME EASY TO UNDERSTAND.
i think a little typing mistake here in 2nd way or may be i don't remember it ri
ght. anyway just post.
you wrote:
(P+Q)x =1

So, (P+Q)x= 1*P*P + 3*P*P*Q+3P*Q*Q+ 1*Q*Q = 1/2*1/2+ 3*

1*P*P = probability of all child affected
3*P*P*Q = probability of 2 child affected and 1 normal
3P*Q*Q= prob of 1 child affected and 2 normal
1*Q*Q= prob of all normal
So probability that one of the children affected is 3P*Q*Q= 3/8
i think
(P+Q)x=1
(P+Q)X= 1P*P*P +3P*P*Q+3P*Q*Q +1Q*Q*Q
1*P*P*P = probability of all child affected=1/2*1/2*1/2=1/8
3*P*P*Q = probability of 2 child affected and 1 normal= 3*1/2*1/2*1/2=3/8
3 P*Q*Q= prob of 1 child affected and 2 normal=3*1/2*1/2*1/2=3/8
1*Q*Q*Q= prob of all normal=1/2*1/2*1/2=1/8
65. A potent inhibitor of protein synthesis that acts as an analogue of
aminoacyl-tRNA is
a. Mitomycin C
b. Streptomycin
c. Nalidixic acid
d. Rifampicin
e. Puromycin
ans: puromycin - acts like amino-acyl t-RNA and binds to growing AA chain instea
d of another AA.
mitomycin c - DNA cross-linker
streptomycin - binds to the 16S rRNA of the bacterial ribosome, interfering with
the binding of fmet -tRNA to the 30S subunit
nalidixic acid - binds dna gyrase
rifampin - binds RNA pol
part of the puromycin molecule resembles the 3' end of aminoacyl-trna.It binds t
o the A site and causes premature termination of protein synthesis
A man whose brother has cystic fibrosis wants to know his risk of having an affe
cted child. The prevalence of cystic fibrosis is 1 in 1600 individuals. The risk
in this case is
a. 1/8
b. 1/16
c. 1/60
d. 1/120
e. 1/256
q2=1/1600
q=1/40
2pq=2/40
chance to man having a carrier state=2/3
2/3*1/2*2/40*1/2=1/120
Gardner's syndrome is an autosomal dominant condition characterized by multiple
polyps of the intestines, bony tumors, skin cysts, and a high risk of intestinal
cancer. A family is encountered in which a greatgrandfather, grandmother, and f
ather are affected with Gardner's syndrome and develop intestinal cancer in thei
r thirties. The father brags that none of his four children have inherited Gardn
er's syndrome because they lack skin cysts and have not had cancer. The chance t
hat at least one child has inherited the Gardner's syndrome allele, and the reas
on the children have not manifested cancer, are
a. 1/4, ascertainment bias

b.
c.
d.
e.

1/2, variable cancer predisposition

3/4, early-onset disease manifestation
13/16, incomplete medical evaluation
15/16, later-onset disease manifestation

The answer is e. The father is affected with Gardners syndrome an autosomal domi
nant disease. Therefore, each of his four children has a 1/2 chance of receiving
the allele that causes Gardner's syn-drome and a 1/2 chance of receiving the no
rmal allele. The probability that none of his four children received the allele
for Gardner's syndrome is thus the joint probability of four independent events,
computed by the product 1/2 x 1/2 x 1/2 x 1/2 = 1/16. The probability that at l
east one child has received the abnormal Gardner's syndrome allele is thus 1 1/1
6 = 15/16. Gardner's syndrome is one of many genetic disorders that may not be o
bvious in early childhood. Intestinal cancer in particular has a later onset, wi
th 50% of patients being affected by age 30 to 35. More extensive evaluation of
the children for internal signs of disease (e.g., the bony tumors) is required b
efore the father can conclude that he has not transmitted the gene. Late-onset d
isorders are an important category of adult genetic disease, and presymptomatic
testing for these diseases is a novel application of DNA diagnosis
Assume that frequencies for the different blood group alleles are as follows: A
= 0.3; B = 0.1; O = 0.6. What is the expected percentage of individuals with blo
od type B?
a. 7%
b. 13%
c. 27%
d. 36%
e. 45%
The answer is b. It is important to remember that individuals with blood type A
can have either genotype AA or AO, and individuals with blood type B can have ei
ther genotype BB or BO. Therefore, the frequency of blood type A is the frequenc
y of homozygotesthat is, 0.3 x 0.3plus the frequency of heterozygotesthat is, 2 (0.
3) x 0.6for a total of 0.45. The frequency of blood type Bis 0.1 x 0.1 + 2 (0.1)
x 0.6 for a total of 0.13. The frequency of individuals with blood type O is sim
ply the frequency of homozygotesthat is, 0.6 x 0.6 = 0.36.
ok, got it... u are using hardy weinberg for more than two alleles
so ( A + B + O )^2 = A2 + B2 + O2 + 2AB + 2AO + 2BO = 1 = 100%
SO B2 + 2BO = 0.01 + 2 (0.1) (0.6) = 0.01 + 0.12 = 0.13 = 13%
The frequency of Tay-Sachs carriers among Ashkenazi Jews is 1/30. The frequency
of Tay-Sachs carriers among whites of Western European descent is approximately
1/300. If a mother is an Ashkenazi Jew and a father is a white from Western Euro
pe, what is the chance that a child of this union will have Tay-Sachs disease?
a. 1/120
b. 1/240
c. 1/3,600
d. 1/9,000
e. 1/36.000
chances of these two CARRIERS being married = 1/30 * 1/300
chances of their kid having the disease if they are carriers = 1/4
= 1/36,000
QQQA woman with cystic fibrosis marries her first cousin. What is the risk that t
heir first child will have cystic fibrosis?
a. 1/2
b. 1/4
c. 1/8
d. 1/16

e. 1/32
ans = 1/8
chance the woman will pass on the gene to her kid = 1
assuming their grandparents and parents didn't manifest the disease:
chances one of the grandparents had the bad gene = 100%
chances the wife's mom/dad had the bad gene = 100% (since they passed it on to h
er)
assuming the wife's uncle/aunt (her husband's mom/dad) got the bad gene from the
grandparent = 1/2
chance that the husband got the bad gene = 1/2 * 1/2 = 1/4
chance that a match between a homozygote and a heterozygote could produce a chil
d with DISEASE = 1/2
therefore, final risk = 1/1 * 1/4 * 1/2 =1/8
****trisomy 16 is more common which causes 1st trimester SPONTANEOUS abortion.
QQQ..The age of onset of a degenerative neurologic disease is 35. Epidemiologic
study of affected persons indicates that most cases occur in the
spring, are isolated (i.e., no neighbors or relatives are affected), and occur
equally in men and women. However, a subset of cases consists of two
affected siblings in a family. The best description of this disease is
a. Inherited
b. Genetic
c. Sporadic
d. Congenital
e. Familial
ans is E.The term familial indicates that a trait or disorder
tends to cluster in families. A genetic disorder is one in which there is eviden
ce
that a gene or chromosome is involved in the susceptibility to the
disease. Evidence for vertical transmission (e.g., father to daughter) is necess
ary
for a disorder to be labeled inherited. Sporadic indicates that evidence
for vertical transmission or familial clustering is lacking. Congenital
simply means present at birth. Note that many congenital diseases (e.g.,
congenital AIDS) are not genetic, that adult-onset diseases may be genetic
without being congenital, and that diseases may be familial (e.g., chickenpox)
without being inherited or genetic. The eugenics movement was
based on a fallacy about genetics, as it proposed breeding restrictions based
on the assumption that all genetic traits (e.g., Downs syndrome) have a
high risk of transmission.
QQQ.70 yr male came to your office with his wife with complain of recurrent UTI .H
e has retired recently from shipyard company ,he is sextually active with his wi
fe and even one male partner ,what is the predisposing factor for this patient
1)smoking
2)HOMOSEXTULATITY
3)ASBESTOSIS
what whould be the answer
Men
UTI is rare in men younger than 50 but not necessarily a sign of urologic abnorm
ality.
Differential diagnosis of dysuria in men:

Urethritis, epididymitis, prostatitis, UTI.

History:
Risk factors for simple UTI: homosexuality, lack of circumcision, partner with v
aginal colonization by pathogens, HIV with CD4 < 200.
PE:
Low back or perineal pain, obstructive symptoms, prostatic tenderness indicate p
rostatitis.
Swollen, tender epididymis indicates epididymitis (or testicular torsion).
Lab:
ALWAYS get urinalysis and urine culture on men.
Treatment:
Treat empirically with TMP/SMX or fluoroquinolone 7 days
Urologic evaluation only needed for recurrent UTI or pyelonephritis
A 10-year-old boy is referred to the physician because of learning
problems and a lack of motivation in school. His family history is unremarkable.
Physical examination is normal except for single palmar creases
of the hands and curved fifth fingers (clinodactyly). The physician decides
to order a karyotype. Which of the following indications for obtaining a
karyotype would best explain the physicians decision in this case?
a. A couple with multiple miscarriages, or a person who is at risk for an inheri
ted
chromosome rearrangement
b. A child with ambiguous genitalia who needs genetic sex assignment
c. A child with an appearance suggestive of Downs syndrome or other chromosomal
disorder
d. A child with mental retardation and/or multiple congenital anomalies
e. A child who is at risk for cancer
ans is D.The hallmarks of children with chromosomal
anomalies are mental retardation and multiple congenital anomalies. In
this case, the individual has learning problems that have not yet been recognize
d
as mental retardation, and he has minor anomalies rather than
major birth defects that cause cosmetic or surgical problems. The physician
was astute to suspect a chromosomal anomaly even when the developmental
disability and alterations in physical appearance were subtle. Other
indications for a karyotype include a couple with multiple miscarriages, an
individual at risk for inheriting or transmitting a chromosomal rearrangement,
a child with ambiguous external genitalia, or an individual with
characteristics of a chromosomal syndrome such as Downs, Turners, or
Klinefelters syndrome. Chromosome translocations are characteristic of
many types of cancer, but these occur in somatic cancer cells rather than in
the patients germ line.
ANS.. 1-the father must be carrier(Aa) he didn t die at 5 years so he is not dis
eased (aa
2-the mother must be carrier( Aa )she didn t die at 5 years so she is not diseas
ed (aa
3-parents have a childrens of (aa) so no one of PARENTS would be AA AND NO ONE a
a
according the upper facts
Report Abuse
* Re:genetics qqqq collection
#2001075
bilal1 - 01/20/10 11:28

Two parents are both affected with albinism but have a normal child. Which of th
e following terms best applies to this situation?
a. Allelic heterogeneity
b. Locus heterogeneity
c. Variable expressivity
d. Incomplete penetrance
e. New mutation
ans is B.Albinism is one of many genetic diseases that
exhibit locus heterogeneity, which means that mutations at several different
loci can produce identical phenotypes. The two McKusick numbers provide
a clue that there is more than one locus for albinism, both causing
autosomal recessive disease. Each parent must be homozygous for a
mutant allele from one albinism locus but heterozygous or homozygous
normal at the other locus. Their child would then be an obligate carrier for
each type of albinism. A new mutation in the child is also possible, converting
one of the parental mutant alleles to normal, but this would be very
rare. Autosomal dominant disorders often vary in severity within families
(variable expressivity) but occasionally are clinically silent in a person
known to carry the abnormal allele (incomplete penetrance
What proportion of genes do a brother and half-sister have in common?
a. One
b. One-half
c. One-fourth
d. One-eighth
e. One-sixteenth
i think 1/4.
half-brother/sisters share 1 common parent. that is, hald their genes are from o
ne parent. The probability of having common genes is therefore the probability o
f siblings = 1/2
so 1/2 * 1/2 =

ans is c.
Although all individuals, other than identical
twins, are genetically unique, we all share some genes in common with our
relatives. The more closely we are related, the more genes we have in common. Fi
rst-degree relatives, such as siblings, parents, and children, share
one-half of their genes. Second-degree relatives share one-fourth, and
third-degree relatives share one-eighth
Increased resistance to malaria is seen in persons with hemoglobin
AS, where A is the normal allele and S is the allele for sickle hemoglobin.
Which of the following terms applies to this situation?
a. Founder effect
b. Heterozygote advantage
c. Genetic lethal
d. Fitness
e. Natural selection
ans is B.Sickle cell anemia is the classic example of a disorder
with a high frequency in a specific population because of heterozygote
advantage. Persons who are heterozygous for this mutant allele
(hemoglobin AS) have increased resistance to malaria and are therefore at
an advantage in areas where malaria is endemic. Founder effect is a special
type of genetic drift. In these cases, the founder or original ancestor of a
population has a certain mutant allele. Because of genetic isolation and
inbreeding in populations such as the Pennsylvania Amish, certain disorders
such as maple syrup urine disease (248600) are maintained at a relatively
high frequency. Fitness is a measure of the ability to reproduce. A

genetic lethal implies that affected individuals cannot reproduce and,

therefore, cannot pass on their mutant alleles. Natural selection is a theory
introduced by Charles Darwin, which postulates that the fittest individuals
have a selective advantage for survival
COPPER
Copper
- Cofactor in many enzymes involved in oxidation-reduction reactions that bind a
nd directly react with oxygen.
Plasma levels normally increased in pregnancy, in inflammation, and with use of
birth control pills.
Bound to ceruloplasmin, which synthesized in the liver. Cofactor for the followi
ng enzymes:
Lysyl oxidase: forms cross-links in collagen and elastic tissue to increase tens
ile strength.
Cytochrome c oxidase: functions in the electron transport system.
Superoxide dismutase: as an antioxidant , neutralizes oxygen free radicals.
Ferroxidase: converts iron to +3 form, which can bind to transferrin.
Tyrosinase: converts tyrosine to dopa in melanin synthesis.
Deficiency is associated with the following:
- Microcytic hypochromic anemia ( cannot bind to transferrin).
-Neutropenia.
-Skeletal abnormailities (defective collagen): osteoporosis.
-Skin depigmentation (tyrosine disorder).
-Dissecting aortic aneurysms (defective collagen and elastic tissue) (USMLE!!).
-Menkes kinky-hair syndrome: rare sex-linked recessive disease with impaired ut
ilization of copper.
Toxicity is associated with Wilson s disease, which is an autosomal recessive di
sease with a defect IN THE EXCRETION OF COPPER INTO BILE
DOXORUBICIN TOXICITY
most common complication is..
1. cardiomyopathy
2. leukopenia
3. palmo-planter dysesthesia
4. intestinal bleeding
5. secondary AML
ans is 2) leukopenia!!
you hear so much about doxorubicin-induced cardiomyopathy, u forget it has other
more common side effects
1)leukopenia is seen in 75% patients v/s cardiomyopathy seen in only about 10%.
usually develops within 2-3 months, but may occur later.
(Doxorubicin cardiotoxicity is characterized by a dose-dependent decline in mito
chondrial oxidative phosphorylation. Reactive oxygen species, generated by the i
nteraction of doxorubicin with iron, can then damage the myocytes (heart cells),
causing myofibrillar loss and cytoplasmic vacuolization.) Arrhythmias may be se
en.
If alopecia were a choice, u should have picked that, since it is almost 100% ce
rtain to occur.

Severe local skin necrosis can occur if extravasation occurs during administrati
on
The other choices are also side-effects.
5)secondary AML or MDS can also occur after therapy with Doxo, esp if used in co
njunction with other alkylating agents/marrow-toxic drugs.
4)GI and hemtologic SEs are worse when used with other drugs
Doxo can also cause chromosomal abnormalities in sperm and contraception should
be used.
3)Chemotherapy-induced acral erythema (also known as "Palmoplantar erythrodysest
hesia syndrome") is a swelling and numbness of the hands and feet that occurs wi
th certain types of chemotherapy, usually with fluorouracil, capecitabine, cytar
abine, and doxorubicin
Due to these side-effects and it s Red colour, the drug is also called RED DEVI
L / RED DEATH
QQ. 9YR OLD boy with insulin-dependent diabetes develops appendicitis, and furthe
r becomes keto-acidotic. This is because:
1. Cortisol suppresses lipolysis
2. IL-1 stimulates CRH release
3. IL-6 stimulates glycogen release
4. TNF-alpha stimulates CRH release
5. IL-8 suppresses Insulin release
answer is 2!
the last 3 answers are also potentially

right, but they re not.

Acute physical or psychological stress activates the hypothalamic-pituitary-adre

nal axis, resulting in increased plasma ACTH and cortisol concentrations.
Fever, caused by systemic infection or by pyrogen administration, is a potent st
imulus of ACTH and cortisol secretion, while infection causes release of interle
ukins IL-1 and IL-6, which stimulate hypothalamic CRH secretion, and tumor necro
sis factor-alpha, which stimulates ACTH secretion directly. Cortisol, in turn, a
cts as a physiological antagonist to insulin by inhibiting glycogenesis, promoti
ng lipolysis, and mobilizing extrahepatic amino acids and ketone bodies. This le
ads to gluconeogenesis with resultant increased circulating glucose concentratio
ns
stress exercise ECG test is most predictive of angiographically significant mult
ivessel or left main coronary artery disease?
A. Late-onset of ST-segment depression.
B. Return to normal of ST-segment changes early in recovery phase.
C. ST-segment elevation in lead aVR.
D. Multifocal premature ventricular contractions.
E. Failure to increase systolic blood pressure by at least 10 mmHg
ans is E
Bruce protocol most often used by Increasing workload to reach 85% max HR (220-a
ge) As exercise progresses, skeletal muscle blood flow increases; oxygen extract
ion increases as much as 3-fold; peripheral resistance decreases; and systolic b

lood pressure (SBP), mean arterial pressure, and pulse pressure usually increase
. Diastolic blood pressure (DBP) remains unchanged or may increase or decrease b
y approximately 10 mm Hg.
Strongly Positive Test (L main, severe TVD)
Angina at low workload (before completion stage 2 Bruce)
ST depression >2mm at low workload (before completion stage 2 Bruce)
ST depression >3mm (horizontal, downsloping)
ST depression persisting for >5min during recovery
ST elevation >1mm
Failure of BP to increase, or fall (>30mmHg) during test (ischaemia induced glob
al LV dysfunction
Blood is flowing in parallel circuit composed of 5 branches, The inflow pressure
is 100 mm Hg and the outflow pressure is 10mm Hg. The resistance of each of the
five branches is 5 mm Hg/mL/min. What is the flow across the circuit?
A. 3.6 mL/min
B. 45 mL/min
C. 90 mL/min
D. 135 mL/min
E. 180 mL/min
Ans is c flow = pressure difference / resistance
total resistance for parallel circuit = R
1/R = 1/5 + 1/5 + 1/5 + 1/5 + 1/5 = 5/5 = 1/1
therefore, R = 1
(100-10) /1 = 90
Which one of the following signs is observed in a patient who has lost a signifi
cant amount of blood
A.
Respiratory acidosis
B.
Dry skin
C.
Polyuria
D.
Bradycardia
E.
Low hematocrit
The answer is: E
Loss of blood causes blood pressure to fall. The baroreceptor reflex response to
the fall in blood pressure causes arteriolar resistance to increase, further de
creasing capillary perfusing pressure. Because whole blood is lost, the concentr
ation of circulating proteins remains normal and, therefore, the oncotic pressur
e remains the same. The decreased capillary pressure and normal oncotic pressure
result in the transfer of fluid from the interstitium to the vascular bed, decr
easing the hematocrit. The increased arteriolar constriction lowers blood flow t
o the kidney causing urine formation to decrease. Sympathetic stimulation causes
peripheral constriction and produces sweating, resulting in the classic sign of
hemorrhage: cold, damp skin. The baroreceptor reflex increases heart rate.
autosomal dominant

Mnemonic: POPS is from MAN Hunt Family-2

P-Ploydactyly
O-Osteogenesis imperfecta
P-Polycystic kidney(Adult)
S-Spherocytosis
M-Marfans
A(A3) *Acute intermittent porphyria
*Alpha 1 Anti trypsin Deficiency
*Achondroplasia
N-Neurofibromatosis-1
Hunt-Huntingtons disease
Family-2:Familial Polyposis Syndrome
Familial Hypercholesterolemia
u can check this notes
1-AR inheritancecystic fibrosis.xeroderma pigmentosumTay-sachs.sickle cell anemia.PKU
(phenyl ketonuria)hemochromatosis.many enzyme def
2-AR.Homozygote25%.. heterozygotes50%
2-Tay-sachs.ashkenazi jews.hexosaminidase def.ARhomozygote25%
3-Example if heterozygote for Tay-sachs is 0.1 then first child with Tay-sachs d
isease is (0.1)(0.1)(0.25) = 0.0025
4-Cystic fibrosis(CF)most common AR in whitespancreatic insufficiency.(85%)deletion
of ..phenylalanineat position..508..responsible for protein folding..
5-CFsterility in male 95%.....inf staph..pseudomonascause of death.= pulmonary dis
ease..abnormal chloride channel protein(CFTR) gene
5-X-linked dominantfemaleskipped generation is unusual
6-X-linked recessivemale.male are hemizygousfemale are heterozygotes(carrier)
7-X-linked recessive.skipped generation are commonly seen because female can show
mild(unaffected)
8- Male to male is not seen in X-linked
9-X-linked recessivehemophilia A.Duchenne.muscular dystrophy
10-X-linked recessiveif mother is carrieran affected male chance is 25%
11-X-linked recessiveif mother carrier and affected fatheraffected child is 50%
12-X chromosome inactivation.. is DNA seen as barr body in interphaserandomfixed(i
t happens in all descendants the same way)incomplete(tips of long and short arms
are not inactivated)
13-X chromosome inactivation..random.fixed.incomplete
14-XIST..primary gene causes X inactivation

15-Hemophilia A.mis-sense mutation in the factor VIII mild disease

16-Nonsense mutation in the factor VIIIsever disease..because it makes truncated
mutation
17-Duchenne muscular dystrophy..gene dystrophindeath..cardirespiratory failure..fr
ame shift mutation..X-linked
18-X-linked dominantif mother is affected.50% male and female child affected
19-X-linked dominant..if father is affected..50% female child affected
20-Autosomal dominant..multiple generations are affected
21-Autosaml recessive.skipped generatios are seen
22-Imprinting.the disease phenotype is very different ,when its tranmitted by mot
her or father
23-Imprinting .....prader-willi synd(father)angelman synd(mother) both are ch.15. d
eletion
24-Prader willi synd mental retard..hypogonadismobesity..deletion on long arm ch.1
5 transmitted by father
25-Angelman synd.mental retardseizures ataxia.. deletion ch.15.. mother
26-Imprinting is based on ..methlation of DNA
27-Downs synd..trisomy 21.AML is seen with ..newborns.ALLin older children
28-Mutation in ACTH receptorcortisolandrogenACTH adrenal cortex all are affected.but
not.aldosteron ..that..is ..made ..in zona glomerulosa is independent of ACTH
29-GFR..M..G lomerulosa..F asciculata..R eticularis ..M edula
30-ACTH.A ldosteron.......C ortisol.T estosterone(androgen)H ypertension(epineph)
31-GFRM = ACTH
32-Variable expressiondifferent degree of phenotypes or faces of diseaselike sever
and mild
33-Variable expression.in mitchondria is named..Heteroplasmy...means..mutation is s
een in only some of the mitochondria..causes sever or mild
34-Allelic Heteroplastydifferent mutations ..in same locus .

35- Allelic Heteroplasty.like mis-sense and ..nonsense ..mutation in factor VIII g

ene
36-Mitochondrial ..inheritance.sperm cell has no mitochondriaso it comes from moth
er..both male and female are affected
37-Mitochondrial inheritanceleber hereritary optic neuropathyoptic nerve damage
38-Mtochondriadisorder.offen expresses as neuropathies and myopathies

39-Brain and muscle are highly dependent on oxidative phosphorylation

40-MELAS.mitochondrial encephalomyopathylactic acidosis.stroke like
41-Myocolonic epilepsy.with .ragged red muscle fibers
42-Mitochondria.Leber..MELAS.Myoclonic epilepsy
43-X-linkedincidence and gene frequency are the same
44-Duchenne.X-linked.if incidence is,,,1/3000then gene frequency is the same 1/3000
45-..p + q = 1..p = dominant allel q = recessive allel heterozygote carrier = 2q
46-Natural selectionAfrican-American population with sickle cell anemia
47-Natural selection..cystic fibrosis.resistant to typhoid fever
48-Natural selectionHemochromatosis.in ..iron poor environment
49-Genetic drift.rapid change in gene frequencies in small population
50-Genetic drift..Ellis van creveld diseaseshort stature.polydactylyheart disease
51-Gene flowexchange of genes among populations.sickle cell anemia ..seen in 1/600
African-American.
52-Ssickle cell anemia..mutation in ..beta-globolin gene on chromosome 11
53-Consanguity..increases incidence of AR inheritance disease
54-Brain .neuritic palaues..neurofibrillary tangles.= ..Down synd..(alzheimers)
55-Edwards synd.trisomy 18rocker-bottom feet
56-Patu synd ..trisomy 13..polydacylycleft lip and palate.renal defect
57-Patu..Edward..die before age 2 y
58-Variable expressionxeroderma pigmentosum..hempophila Aneurofibromatosis type 1
59-Incomplete penetrancein some people disease can not be seenthey are Obligate ca
rrier but their father or mother are affected
60-Incomplete penetrancehereditary hemochromatosisfamilial breast cancerretinoblast
oma
61-Delayed aged of onset..huntingtonfamilial breast cancer.familial colon cancer..
Hemochromatosis.adult polycystic disease
62-Pleiotropy..single disease affects ..multiple organsMarfan
63-Locus heterogeneity..same diseasebut different loci..ostegenesis imperfecta. Some
on...ch.7 andsome on .ch.17
64-New mutation.acondroplasia(80% new mutation)neurofibromatosis type1 (50% new mut
ation)
65-Anticipationtrinuclotide repeatmytonic dystrophyfragile X synd Huntington

66-Anticipationrecent generations have greater severity or earlier age(younger)

67-Barr bodycan be seen in those with more than one X.46XX or 47XXY(klinefelter sy
nd)
68-Barr body can not be seen in turner 45X.or 47XYY
69-Fragile X synd..leading cause of inherited .mental retardation
70-Fragile X syndLONG arm of X chromosome elongationLONG..ears(large)LONGtestes(marc
ro-orchidism)LONG range of joint motion(hypermobile joint)
71-Fragile X synd..CGG repeat..in the 5 untranslated region of FMR1 gene
x-linked recessive
Mnemonic : LG Home Deck is Kinky like a small-x Brutally Hunt With Fabrys Colour
Granules Test
L-Lesch-Nyhan syndromeG-G6pd deficiency
H-Hemophilia A&B
Kinky-Menkys Kinky hair syndrome
Small-x: X linked recessive disorders
Brut- Brutons Agammaglobulinemia
Hunt-Hunters syndrome
W-Wiskott Aldrich Syndrome
Fabrys- Fabrys disease
Colour-Colour blindness
Granules-Chronic granulomatous disorder
GENETICS NOTES sTest-Testicular Feminisation SyndromE
Some books give Fragile X syndrome is XLD and some XLR
So those who support it as XLR u can add Fragile Kinky or kinky fragile
the mnemonic
Kaplan Goes with XLD
So I guess we need to go with it.And thats why I didnt add it for sure.

in

autosomal recessive
Mnemonic: Police Commissioner of STATe Had Problem Getting PR(Permanent Residenc
e) for Pigmented Hypothyroid Dwarf uncle Wilson
P-Phenyl Ketonuria
C-Cystic fibrosis
S-Sickle cell anemia
T-Tay Sachs( & all other lysosomal storage disorders except hunters & Fabrys which
r XLR)
A-Albinism
T-thalassemia
H-Hemochromatosis
Hepatolenticular degeneration
P-Pyruvate kinase deficiency
G-Galactosemia
-Glycogen storage disorders (All)

P-Polycyctic Kidney (Juvenile)

-Premature senility
R-Retinitis pigmentosa
Pigmented-Xeroderma pigmentosum
Hypthyroidism
Dwarf-Dwarfism
Uncle Wilson-Wilsons disease
Most of the enzyme def. disorders are AR.
albinism is an autosomal recesiive disease. The frequency of the gene for
sm in a population is know to be a 1/190. What is the aproximate risk for
smin the child of an albino woman who marries an unrelated and unaffected
it no family history of albinism?
a. 1/95
b. 1/190
c. 1/380
d. 1/570
e. 1/170
answer is b
gene frequency = 1/190
so carrier frequency = 2 x 1/190
so chance of father being carrier is 2/190
mother is affected.. so chance of baby with albinism, for affected mother
rrier father is 1/2
so combined chance = 1/2 x 2/190 = 1/190

albini
albini
man wh

and ca