Chromosomes and monogene inheritance

Question 1

monogenic

Answer 1

Mutation in one gene

Question 2

Balanced abnormality

Answer 2

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

Question 3

Q-Banding

Answer 3

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

Question 4

G-banding

Answer 4

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

Question 5

R-Banding

Answer 5

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

Question 6

C-Banding

Answer 6

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

Question 7

Karyotype

Answer 7

an individual’s complete set of chromosomes.

Question 8

Comparative genomic hybridization

Answer 8

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

Question 9

autozygosity

Answer 9

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

Question 10

Polyploid

Question 11

Euploidy

Question 12

Aneuploidy

Question 13

nondisjunction

Answer 13

Paired chromosomes fail to seperate during anaphase of meiosis I

Question 14

Monosomic

Answer 14

one pair of chromosomes

Question 15

Trisomic

Answer 15

aneuploids, carrying an extra chromosome to the normal somatic complement

Question 16

Robertsonian translocation

Answer 16

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.

Question 17

Chromothripsis

Answer 17

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

Question 18

Unbalanced abnormality

Answer 18

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

Question 19

TADs

Question 20

Gene conversion

Question 21

Oocyte

Answer 21

is chromosome 23 and x

Question 22

Spermatocyte

Answer 22

Chromosome is 23, x or y

Question 23

How is the chromosome structure?

Answer 23

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

Question 24

Chromosome roles

Answer 24

• Transmits genetic information through meiosis/mitosis
• Control expression of genetic information

Question 25

How is expression chromosomal controlled?

Answer 25

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

Question 26

Chromatin loops

Answer 26

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

Question 27

Structural abnormalities

Answer 27

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

Question 28

Numerical abnormalities

Answer 28

Happens during division errors includes: - Polyploidies - Aneuplodies

Question 29

Recombination event between pseudoautosomal regions near SRY on Y-chromosome

Answer 29

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

Question 30

Reciprocal translocation

Answer 30

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

Question 31

P-arm

Answer 31

Has genes for ribosomal DNA

Question 32

Locus

Answer 32

Unique location of a gene on a chromosome

Question 33

Allele

Answer 33

Alternative version of a gene

Question 34

Hemizygote

Answer 34

Only have one allele

Question 35

Multifactoral

Answer 35

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

Question 36

Locus heterogeneity

Answer 36

Mutation in different genes leads to same disease

Question 37

Allele heterogeneity

Answer 37

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

Question 38

Compound heterozygote

Answer 38

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

Question 39

X-inactivation

Answer 39

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

Question 40

Allelic homogeneity

Question 41

Haploinsufficiency

Question 42

Non-allelic homologous

Question 43

balanced abnormality

Question 44

difference between mandelian and complex herritage conditions