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GENETICS Flashcards

1
Q

What are the autosomal recessive diseases? (12)

A
  1. Albinism
  2. autosomal recessive polycystic kidney disease (ARPKD)
  3. cystic fibrosis
  4. glycogen storage diseases
  5. hemochromatosis
  6. Kartagener syndrome
  7. mucopolysaccharidoses (except Hunter syndrome)
  8. phenylketonuria
  9. sickle cell anemia
    10.sphingolipidoses (except Fabry disease)
  10. thalassemias
  11. Wilson disease.
    13 . Classical galactosemia
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1
Q

What are the X-linked recessive disorders? Oblivious Female Will Often Give Her Boys Her x-Linked Disorders

A 
Ornithine transcarbamylase deficiency
Fabry disease
Wiskott-Aldrich syndrome
Ocular albinism
G6PD deficiency 
Hunter Syndrome
Bruton agammaglobulinemia
Hemophilia A and B 
Lesch-Nyhan syndrome 
Duchenne (and Becker) muscular dystrophy
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2
Q

What are the autosomal dominant diseases?(13)

A
  1. Autosomal dominant polycystic kidney disease (ADPKD)
  2. Familial adenomatous polyposis
  3. Familial hypercholesterolemia
  4. Hereditary hemorrhagic telangiectasia
  5. Hereditary spherocytosis
  6. Huntington disease
  7. Li-Fraumeni syndrome
  8. Marfan syndrome
  9. Multiple endocrine neoplasias (MEN)
  10. Neurofibromatosis type 1 (von Recklinghausen disease)
  11. Neurofibromatosis type 2
  12. Tuberous sclerosis
  13. von Hippel-Lindau disease
  14. Achondroplasia
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4
Q

What are the Trinucleotide repeat expansion diseases?(4)

A

Fragile X syndrome = (CGG)n.
Friedreich ataxia = (GAA)n.
Huntington disease = (CAG)n.
Myotonic dystrophy = (CTG)n.

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4
Q

Mechanism of actions of anti tuberculous drugs RIP?

A

Rifampicin 🚫RNA polymerase 🚫RNAm synthesis
Isoniazid 🚫 synthesis mycolic acid
Pirazinamide 🚫 fatty acid synthetase I

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5
Q

What are the Chromosomal disorders?

A

3………von Hippel-Lindau disease, renal cell carcinoma
4 ………ADPKD with PKD2 defect, Huntington disease
5……… Cri-du-chat syndrome, familial adenomatous polyposis
7 ………Williams syndrome, cystic fibrosis
9……… Friedreich ataxia
11……..Wilms tumor
13…….. Patau syndrome, Wilson disease, RB tumor suppressor
15…….. Prader-Willi syndrome, Angelman syndrome
16…….. ADPKD with PKD1 defect
17…….. Neurofibromatosis type 1
18…….. Edwards syndrome
21…….. Down syndrome
22…….. Neurofibromatosis type 2, DiGeorge syndrome (22q11)
X………..Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)j

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6
Q

Which meiosis step is implicated in klinefelter, turner and XYY syndromes?

A

Klinefelter 47XXY🔹 MEIOSIS I nondisjunction
Turner 45XO🔹MEIOSIS I nondisjunction
XYY syndrome🔹 MEIOSIS II nondisjunction

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7
Q

What are the inhibitors of reverse-tanscriptase? (2) (4,2)

A 
NUCLEOSIDE
zidovudine
Didanozine
Lamivudine
Emtricitabine

NON NUCLEOSIDE (non myelosupressant)
Nevirapine
Efavirenz

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8
Q

Principal clinical features of Prader-Willi syndrome? (5) an IMPRINTING PHENOMENON

A 
Short stature
Small hands and feet
HYPERPHAGIA  OBESITY
dismorphic facial features
Mental retardation
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9
Q

What are the clinical features of Angelman syndrome? (3) an IMPRINTING PHENOMENON

A

Ataxic puppet-like gait

Tendency to SMILE 😀

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10
Q

Percentage of penetrance of Fragile X syndrome in men and women?

A

Men 100%

Women 60%

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11
Q

What’s locus heterogeneity?

A

Same disease cause by mutations in different gene loci

OSTEOGENESIS IMPERFECTA !!!

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12
Q

What’s the hardy-Weinberg equilibrium ecuation?

A

p² + 2pq + q² = 1
p + q = 1

p² =AA Dominant Homozygous
2pq=Aa Heterozygous
q² = aa Recessive Homozygous SICK!!!!

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13
Q

What’s linkage dysequilibrium ?

A

When the muted gene have to be secreted whit other nearby gene

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14
Q

What’s gene flow ?

A

Gene exchange between different populations

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15
Q

What’s genetic Drift?

A

Change in gene frequency due to finite population size

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16
Q

What’s natural selection genes?

A

Increase or decrease in particular gene frequency due to its effects in survival and fertility

17
Q

When there is linkage disequilibrium?

A

When two deferents loci tends to be together

A : 0.3
B: 0.2

So A-B would be 0.3 X 0.2 =0.06
BUT THE REALITY IS A-B =O.2. Is a linkage disequilibrium

18
Q

What the law of segregation means?

A

Gametogenesis results in separation of paired chromosomes so the offspring will inherit only half of each parent genes

19
Q

What’s conservative mutation?

A

Specific type of missense mutation
The new a.a. Has similar characteristics with the normal a.a.
So this protein works well

19
Q

What’s conservative mutation?

A

Specific type of missense mutation
The new a.a. Has similar characteristics with the normal a.a.
So this protein works well

21
Q

What is the most common fatal genetic disease among caucassians?

A

CYSTIC FIBROSIS!!!

22
Q

Explain the illness produced by bcr-abl,ras, Erb-B2, N-myc.

A

bcr-abl (Philadelphia chromosome) CML
Ras A LOT OF CANCER
Erb-B2 tyrosine kinase related whit epidermal grow factor receptor BREAST OVARIAN

N-myc neuroblastoma

23
Q

what cardiac anomalies are related with DiGeorge syndrome?(3) and genetic cause?

A

Tetralogy of fallot!!!!
Truncus arteriosus
Interrupted aortic arch

MICRODELECTION 22q11,2

24
Q

conditions with polygenic inheritance? (7)

A 
androgenic alopecia
epilepsy
glaucoma
hypertension
ischemic heart disease
schizophrenia
Type II diabetes
25
Q

What processes are necessary to pos-transcriptional modification? (3) to produce mature mRNA

A

5’ capping
Polyadenylation poly-A tail
Splicing

26
Q

Telomeres synthesized by telomerase are rich in…

A

TTAGGG

27
Q

Principal features of Williams syndrome?(3)

A

Elfin facies
Supra valvular aortic stenosis
Extroverted personality

28
Q

What is epistasis?

A

The allele in one gene affects the phenotypic expression of alleles in another gene

29
Q

cause of mitochondrial myopathy?

A

mitocondrial mutation
deficit of oxidative phosphorilation
affect principally brain and muscles

29
Q

Important genetic disease caused by frameshift mutation?

A

FAMILIAR HYPERCHOLESTERONEMIA!!!!

31
Q

What is characteristic in mithocondrial inheritance disease?

A

Epilepsy ➕ myopathy

Encephalopathy ➕lactic acidosis

32
Q

What’s microarray?

A

Hybridization of a large number of probes at once using a gene chip

33
Q

What are homebox?

A

Genes which code for TRANSCRIPTIONAL FACTORS of genes involve in the segmental organization of the EMBRYO

34
Q

Cause of fragile X syndrome?

A

Hyper methylation of CGG repeats in the long arm of the X chromosome

35
Q

What is are the unique segments which have RNA strain and DNA strain?(2)

A

PRIMERS

TELOMERES

36
Q

what is heteroplasmy?

A

Having different mitochondial genomes in a single cell

severity of disease is related with how many abnormal mithocondrias do you have

37
Q

diference between promoters and enhancers?

A

Promoters : binds general transcriptor factors and RNA polymerase II

  • TATA 25 bp upstream
  • CAAT 70-80 bp upstream

Enhancers: (like silencers)
facilitate bendding DNA
upstream - downstream or within introns

38
Q

Which hereditary illnes show anticipation?(4)

A
  • Huntingtong
  • Friederich ataxia
  • Fragile x
  • myotonic dystrophy
39
Q

Process by X chromosome get condensated?

A

Lyonization

40
Q

Clinical features of DiGeorge syndrome? CATCH

A 
Conotruncal cardiac defects
Abnormal facies
Thymic Aplasia 
Cleft palate
Hypocalcemia
41
Q

Difference among allelic heterogeneity , genetic heterogeneity and phenotypic heterogeneity?

A

allelic heterogeneity different mutations at the same loci cause similar phenotype

genetic heterogeneity mutation at the different loci cause similar phenotype

phenotypic heterogeneity mutations at the same gene cause different phenotypes

Step 1 (1) (16 decks)

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