Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Bio 204 > Non Mendelian genetics disorders > Flashcards

Non Mendelian genetics disorders Flashcards

(68 cards)

Start Studying
1
Q

Hemophilia and Queen Victoria

A

A recicive gene that occurred because of a mutation.

She was a carrier, did not have it

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Open circle or square with a dot

A

Shows a carrier

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Hemophilia in the royal men

A

Appeared in alternate generations. They were the only ones who were affected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Products on the x chromosome would be equal for men and women if

A
  1. Expression of genes were doublen on male x chromosomes
  2. Expression of female x chromosome expression is halved
  3. A chromosome was turned off for women
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What actually makes x chromosome expression equal

A

The turning off a chromosome in women.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Inactivation occurs

A

During the embryotic development. A complete chance which one will be deactivated.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Barr body

A

A dense mass of chromatin in female cells made of the inactive chromosome.
The same in all the cells descendants
Can be different from one cell to the next

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Heterozygous individuals and deactivation

A

The dominant allele overpowers the expression of the recessive allele that was not deactivated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Different phenotypes in the body

A

Also can happen in heterozygous individuals. The deactivated cells differ so the areas they are active are different

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Phenotype differences example

A

Calico cats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What breaks chromosomes

A

Radiation, chemicals, enzymes, change in chromosome number

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Broken genes can…

A

Get lost, reattach to the same of different genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Alterations after breakage

A

Deletion
Duplication
Translocation
Inversion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Deletion

A

A broken segment is lost

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Duplication

A

A broken segment enters into a homologue. 2 fragments of the same chromosome in a row

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Homologue

A

a different chromosome with the exact same DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Translocation

A

A broken segment attaches to a different, non homologous chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Inversion

A

A broken segment attaches to the same area but backwards

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Criduchat

A

Deletion of chromosome 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Duplication can be

A

Evolutionarily beneficial or harmful, or have no effects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Duplication example

A

Hemoglobin in mammals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Translocation is often

A

Reciprocal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Reciprocal

A

2 non homologous chromosomes exchange segments.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Burkitt lymphoma

A

Chromosome 8 and 14 ends exchange resulting in over expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Inversion effects
Similar to translocation. Can be beneficial or harmful
26
Nondisjunction
The failure of a homologous chromosome to separate during meiosis I or the mis division of chromosomes during meiosis II
27
Improper division in Meiosis I
Doesn't have an effect of meiosis II division
28
Aneuploids
Individuals that don't have 46 chromosomes
29
Euploid
An individual who has 23 pairs of chromosomes
30
Polyploids
1+ extra copies of chromosomes.
31
Triploids
3 copies of a chromosome
32
Tetraploid
4 or more copies of a chromosome
33
Aneuply results
Often debilitating or lethal. Miscarriages are common
34
Down syndrome
An extra chromosome 21 | Results in a short stature, cognitive impairment, and being sterile
35
Aneuploidy in sex chromosomes
Less drastic effects. In women, x chromosome deactivation mechanisms can make it a barr body
36
XXX
Taller, high risk for a learning disability, and mensural irregularities
37
How are polyploids created
When the spindle fails to divide chromosomes
38
Polyploid in plants
They become hardier and more successful in growth and regulation. Common
39
Polyploid in animals
Lethal to 99% before birth
40
Recessive allele diseases function because of
Defective proteins (minimal or no function)
41
Autosomal recessive inheritance
A form of disease where Homozygous dominant and heterozygous are least affected Homozygous recessive are affected
42
Malaria and sickle cell trait
Individuals who are heterozygous are more immune, therefore more people in these countries survive
43
Cystic fibrosis
Altered membrane proteins resulting in cl- in extracellular fluid
44
PKU
The enzyme that coverts phenylalanine to tyrosine is not made. Phenylalinine and phenyl pyruvate build up
45
PKU prevention
If it is caught in infancy it can be altered by diet
46
Autosomal dominant inheritance
Homozygous dominant/heterozygous individuals are affected | Homozygous recessive are unaffected
47
Autosomal dominant inheritance example
Achondroplaisa
48
X-linked recessive inhertiance
Inheritance of the recessive allele. Duchene muscular dystrophy
49
Why are low income populations higher in disabilities
1. Environmental factors 2. Gained immunity to other diseases 3. Genetic counseling 4. Prenatal diagnosing
50
Genetic counseling
Using pedigrees or DNA test councilors predict if children will inherit a disease
51
Prenatal diagnosing
Embryonic cells are tested for mutant alleles or chromosomal alterations
52
Amniocentesis
Cells taken from the amniotic fluid
53
Chorionic villus sampling
Cells taken from the placenta that developed from the embryo
54
Genetic screening
Uses biochemical to test for disorders after birth
55
Cytoplasmic inheritance
Involves genes in the mitochondria and chloroplast
56
Genomic imprinting
Gene expression occurs differently if the gene was form mom or dada
57
Cytoplasmic gene difference
1. Mendelian ratios are not found because meiosis does not occur 2. Genes show unparented inheritance
58
Unparented inheritance
All offspring inherit the genotype of 1 parent
59
Why does maternal inheritance occur
In cytoplasmic inheritance because egg cells have more cytoplasm that sperm
60
Mitochondrial DNA mutations
Have to do with the ATP producing reactions
61
Imprinted (silent) alleles
The allele that is not expressed in genomic imprinting. Silenced by chemical modifications of its bases
62
PWS and AS
Caused by genomic imprinting and deletion of homologous genes
63
PWS genes
PWS is deleted and silenced on the mom's chromosome and the person has no PWS gene activity
64
AS gene
Same as PWS but the paternal gene is silenced via deletion
65
Methylation
The addition of CH3 to cytosine nucleotides to silence a gene Occurs in a embryo soon after fertilization
66
Methylation affects
The gene control region not the actual gene
67
Insulin growth factor 2
Codes for a molecule for cells to divide and grow. Ideally the paternal gene is on and the maternal gene is off
68
Loss of imprinting
Both genes are turned on leading to double growth factor which leads to cancer

Bio 204 (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions