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Molecular Biology and Genetics > Chromosomes and monogene inheritance > Flashcards

Chromosomes and monogene inheritance Flashcards

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1
Q

monogenic

A

Mutation in one gene

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2
Q

Balanced abnormality

A

structural rearrangements of genetic material with no overall gain or loss detected with conventional karyotyping

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3
Q

Q-Banding

A

Chromosomes are staindes with flourescent dye, which binds to AT-rich DNA

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4
Q

G-banding

A

Chromosomes are subject to controlled digestion with trypsin and stained with giemsa stain (creates dark and “white” bands.

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5
Q

R-Banding

A

The chromosomes are heat-denatured in saline before being stained giemsa (reverse coloring from G-banding)

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6
Q

C-Banding

A

The chromosomes are denatured with a saturated solution of barium hydroxide before giemsa staining

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7
Q

Karyotype

A

an individual’s complete set of chromosomes.

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8
Q

Comparative genomic hybridization

A

a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA and refrence DNA.

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9
Q

autozygosity

A

term used to denote alleles or chromosomal segments of DNA that are identical (homozygous by descent)

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10
Q

Polyploid

A
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11
Q

Euploidy

A
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12
Q

Aneuploidy

A
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13
Q

nondisjunction

A

Paired chromosomes fail to seperate during anaphase of meiosis I

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14
Q

Monosomic

A

one pair of chromosomes

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15
Q

Trisomic

A

aneuploids, carrying an extra chromosome to the normal somatic complement

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16
Q

Robertsonian translocation

A

Loss of P-arm the chromosomes 13, 14, 15, 21 and 22 are robertsonian chromosomes (short P-arm)

  • Segregation of robertsonian translocation can lead to trisomy, monosomy, carrier and normal.
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17
Q

Chromothripsis

A

is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other cases non-cancer cells

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18
Q

Unbalanced abnormality

A

structural rearrangements of genetic material with overall gain or loss detected with conventional karyotyping

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19
Q

TADs

A
20
Q

Gene conversion

A
21
Q

Oocyte

A

is chromosome 23 and x

22
Q

Spermatocyte

A

Chromosome is 23, x or y

23
Q

How is the chromosome structure?

A

P-arm, Q-Arm, telomere (TTAGGG) in ends and centromere in center

24
Q

Chromosome roles

A
  • Transmits genetic information through meiosis/mitosis
  • Control expression of genetic information
25
Q

How is expression chromosomal controlled?

A

Chromosomal territories are specific, active genes are placed near the center and non-active in the periphery (this placement is fluid)

26
Q

Chromatin loops

A

occurs when stretches of genomic sequence that lie on the same chromosome (configured in cis) are in closer physical proximity to each other than to intervening sequences

27
Q

Structural abnormalities

A

Happens during chromosomes pairing includes:
- Translocation
- Inversions
- Duplication
- Deletion
- Ring
- Marker

28
Q

Numerical abnormalities

A

Happens during division errors includes:
- Polyploidies
- Aneuplodies

29
Q

Recombination event between pseudoautosomal regions near SRY on Y-chromosome

A

If the SRY moves from the Y- chromosomes leads to XX-males and XY-women

30
Q

Reciprocal translocation

A

recombination between two non-homologue chromosomes –> if no deletion at breakpoint person is normal (the breakpoint disturbs dominant gene and increases infertility

31
Q

P-arm

A

Has genes for ribosomal DNA

32
Q

Locus

A

Unique location of a gene on a chromosome

33
Q

Allele

A

Alternative version of a gene

34
Q

Hemizygote

A

Only have one allele

35
Q

Multifactoral

A

Mutations in several genes plus milieu
- Higher severity equeals greater recurrance

36
Q

Locus heterogeneity

A

Mutation in different genes leads to same disease

37
Q

Allele heterogeneity

A

Mutation in same gene leads to same disease (can also be different mutation that leads to different disease)

38
Q

Compound heterozygote

A

Has two different allele mutations and no healthy allele, leads to an in between phenotype

39
Q

X-inactivation

A

is a process by which one of the copies of the X chromosome is inactivated in therian female mammals.

40
Q

Allelic homogeneity

A
41
Q

Haploinsufficiency

A
42
Q

Non-allelic homologous

A
43
Q

balanced abnormality

A
44
Q

difference between mandelian and complex herritage conditions

A
45
Q
A

Molecular Biology and Genetics (6 decks)

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