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Semmelweis Yeet > Chromosomal Abberations and Open Questions (GEN) > Flashcards

Chromosomal Abberations and Open Questions (GEN) Flashcards

1
Q

Down syndrome

A

Trisomy 21

47 (XX/XY) t21

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2
Q

Edwards syndrome

A

Trisomy 18

47 (XX/XY) t18

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3
Q

Patau syndrome

A

Trisomy 13

47 (XX/XY) t13

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4
Q

Angelman syndrome

A

Maternal deletion of 15q 11-13

46 (XX/XY) 15q 11-13

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5
Q

Prader-Willi syndrome

A

Paternal deletion of 15q 11-13

46 (XX/XY) 15q 11-13

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6
Q

Turner syndrome

A

Monosomy X

45 XO

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7
Q

Klinefelter syndrome

A

47 XXY

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8
Q

Huntington disease

A

AD
Chromosome 4 CAG repeated in HTT gene > 36 times
Higher number of repeats -> earlier symptoms (anticipation)

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9
Q

Myotonic dystrophy

A

AD
Type 1 -> 19q CTG repeated in DMPK gene
Type 2 -> 3q CCTG repeated in CNBP gene

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10
Q

Fragile X syndrome

A

X-linked dominant

CGG repeated in FMR1 gene

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11
Q

Friedrichs Ataxia

A

AR

Chromosome 9 GAA repeat in FXN gene

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12
Q

Cri du Chat

A

Deletion of 5p

46 (XX/XY) 5p-

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13
Q

Williams syndrome

A

Microdeletion of 7q 11.23

46 (XX/XY) 7q 11.23

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14
Q

DiGeorge syndrome

A

10% AD
22q 11.2 deletion (catch 22)
46 (XX/XY) 22q 11.2

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15
Q

Burkitt lymphoma

A

t(8;14) (q24;q32)

dysregulation of c-myc

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16
Q

Classify the complex inherited traits and diseases, give examples for each group!

A

Complex traits: results of multiple genetic and enviromental factors, does not behave according to mendelian laws.

Congenital malformations: cleft lip, cleft palate, neural tube defects, congenital heart diseases
Chronic adult diseases: obesity, diabetes, hypertension, autoimmune

17
Q

Describe the process of X inactivation. Why, when, in whom, and how does it happen. How many X is inactivated? What is the consequence of it?

A

One copy of X chromosome is inactivated in female mammals.
Silenced and packed into heterochromatin.
Prevents females from having twice as many gene copies as males.
One X will be inactivated.
Visible as Barr body, periphery of nucleus.

18
Q

Define proteomics:

A

Proteomics: large scale study of proteins. (Proteome: entire set of proteins in an organism/system)

19
Q

What can be the genetic causes of Prader-Willi syndrome? Describe these genetic causes.

A

Paternal deletion of 15q 11-13
- deletion of Prader-Willi gene on chromosome 15

Maternal uniparental disomy
- both copies of cr. 15 from mother, both epigenetically methylated and silenced: with no paternal cr. 15 - no expression of PW gene

Wrong imprinting
- Mutation in imprinting center causes paternal PW to be silenced

20
Q

Define genome:

A

All nuclear and mitochondrial DNA

21
Q

Define pleiotropy:

A

The control of more than one trait by a single allele

- one gene influences two or more seemingly unrelated traits

22
Q

Define mosaicism and give cause

A

Mosaicism: the presence of two or more populations of cells with different genotypes from a single zygote
Cause: nondisjunction

23
Q

Define chimerism

A

Chimerism: presence of two or more cell lines of different origins (different zygote)
Cause: fusion of fraternal twins, double fertilization of egg, polar bodies

24
Q

Define functional mosaicism

A

Functional mosaicism: identical cells use different proteins to carry out the same function

25
Q

Define histone modification and list the different types; what is their significance?

A

Histone modification: Epigenetic processes

  1. Acetylation
  2. Methylation
  3. Phosphorylation
  4. Ubiquination
  5. SUMOylation

Activates/silences genes without altering nucleotide sequence

26
Q

Describe the meaning of the followings: Sex linked, sex limited and sex influenced inheritance. (Do not forget to give the location of gene responsible for the trait in these different inheritances). Give one example for each.

A

Sex linked - gene is located on chromosome on sex chromosome (X or Y)
-> Duchenne m. Dystrophy, dystrophin, short arm of chr. X, deletion

Sex limited - gene present in both sexes, but are expressed only in one sex

  • > on autosomes
  • > Prostate cancer/ovarian cancer

Sex influenced - same gene shows different expression in each sex

  • > on autosomes
  • > body/facial hair
  • > presence/absence of hormones
  • > male pattern baldness

Semmelweis Yeet (5 decks)

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