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Bio 204 > Non Mendelian genetics disorders > Flashcards

Non Mendelian genetics disorders Flashcards

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Biology 101 flashcards
1
Q

Hemophilia and Queen Victoria

A

A recicive gene that occurred because of a mutation.

She was a carrier, did not have it

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2
Q

Open circle or square with a dot

A

Shows a carrier

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3
Q

Hemophilia in the royal men

A

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

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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
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5
Q

What actually makes x chromosome expression equal

A

The turning off a chromosome in women.

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6
Q

Inactivation occurs

A

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

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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

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8
Q

Heterozygous individuals and deactivation

A

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

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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

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10
Q

Phenotype differences example

A

Calico cats

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11
Q

What breaks chromosomes

A

Radiation, chemicals, enzymes, change in chromosome number

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12
Q

Broken genes can…

A

Get lost, reattach to the same of different genes

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13
Q

Alterations after breakage

A

Deletion
Duplication
Translocation
Inversion

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14
Q

Deletion

A

A broken segment is lost

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15
Q

Duplication

A

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

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16
Q

Homologue

A

a different chromosome with the exact same DNA

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17
Q

Translocation

A

A broken segment attaches to a different, non homologous chromosome

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18
Q

Inversion

A

A broken segment attaches to the same area but backwards

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19
Q

Criduchat

A

Deletion of chromosome 5

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20
Q

Duplication can be

A

Evolutionarily beneficial or harmful, or have no effects

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21
Q

Duplication example

A

Hemoglobin in mammals

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22
Q

Translocation is often

A

Reciprocal

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23
Q

Reciprocal

A

2 non homologous chromosomes exchange segments.

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24
Q

Burkitt lymphoma

A

Chromosome 8 and 14 ends exchange resulting in over expression

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25
Q

Inversion effects

A

Similar to translocation. Can be beneficial or harmful

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26
Q

Nondisjunction

A

The failure of a homologous chromosome to separate during meiosis I or the mis division of chromosomes during meiosis II

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27
Q

Improper division in Meiosis I

A

Doesn’t have an effect of meiosis II division

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28
Q

Aneuploids

A

Individuals that don’t have 46 chromosomes

29
Q

Euploid

A

An individual who has 23 pairs of chromosomes

30
Q

Polyploids

A

1+ extra copies of chromosomes.

31
Q

Triploids

A

3 copies of a chromosome

32
Q

Tetraploid

A

4 or more copies of a chromosome

33
Q

Aneuply results

A

Often debilitating or lethal. Miscarriages are common

34
Q

Down syndrome

A

An extra chromosome 21

Results in a short stature, cognitive impairment, and being sterile

35
Q

Aneuploidy in sex chromosomes

A

Less drastic effects. In women, x chromosome deactivation mechanisms can make it a barr body

36
Q

XXX

A

Taller, high risk for a learning disability, and mensural irregularities

37
Q

How are polyploids created

A

When the spindle fails to divide chromosomes

38
Q

Polyploid in plants

A

They become hardier and more successful in growth and regulation. Common

39
Q

Polyploid in animals

A

Lethal to 99% before birth

40
Q

Recessive allele diseases function because of

A

Defective proteins (minimal or no function)

41
Q

Autosomal recessive inheritance

A

A form of disease where
Homozygous dominant and heterozygous are least affected
Homozygous recessive are affected

42
Q

Malaria and sickle cell trait

A

Individuals who are heterozygous are more immune, therefore more people in these countries survive

43
Q

Cystic fibrosis

A

Altered membrane proteins resulting in cl- in extracellular fluid

44
Q

PKU

A

The enzyme that coverts phenylalanine to tyrosine is not made. Phenylalinine and phenyl pyruvate build up

45
Q

PKU prevention

A

If it is caught in infancy it can be altered by diet

46
Q

Autosomal dominant inheritance

A

Homozygous dominant/heterozygous individuals are affected

Homozygous recessive are unaffected

47
Q

Autosomal dominant inheritance example

A

Achondroplaisa

48
Q

X-linked recessive inhertiance

A

Inheritance of the recessive allele. Duchene muscular dystrophy

49
Q

Why are low income populations higher in disabilities

A
  1. Environmental factors
  2. Gained immunity to other diseases
  3. Genetic counseling
  4. Prenatal diagnosing
50
Q

Genetic counseling

A

Using pedigrees or DNA test councilors predict if children will inherit a disease

51
Q

Prenatal diagnosing

A

Embryonic cells are tested for mutant alleles or chromosomal alterations

52
Q

Amniocentesis

A

Cells taken from the amniotic fluid

53
Q

Chorionic villus sampling

A

Cells taken from the placenta that developed from the embryo

54
Q

Genetic screening

A

Uses biochemical to test for disorders after birth

55
Q

Cytoplasmic inheritance

A

Involves genes in the mitochondria and chloroplast

56
Q

Genomic imprinting

A

Gene expression occurs differently if the gene was form mom or dada

57
Q

Cytoplasmic gene difference

A
  1. Mendelian ratios are not found because meiosis does not occur
  2. Genes show unparented inheritance
58
Q

Unparented inheritance

A

All offspring inherit the genotype of 1 parent

59
Q

Why does maternal inheritance occur

A

In cytoplasmic inheritance because egg cells have more cytoplasm that sperm

60
Q

Mitochondrial DNA mutations

A

Have to do with the ATP producing reactions

61
Q

Imprinted (silent) alleles

A

The allele that is not expressed in genomic imprinting. Silenced by chemical modifications of its bases

62
Q

PWS and AS

A

Caused by genomic imprinting and deletion of homologous genes

63
Q

PWS genes

A

PWS is deleted and silenced on the mom’s chromosome and the person has no PWS gene activity

64
Q

AS gene

A

Same as PWS but the paternal gene is silenced via deletion

65
Q

Methylation

A

The addition of CH3 to cytosine nucleotides to silence a gene
Occurs in a embryo soon after fertilization

66
Q

Methylation affects

A

The gene control region not the actual gene

67
Q

Insulin growth factor 2

A

Codes for a molecule for cells to divide and grow. Ideally the paternal gene is on and the maternal gene is off

68
Q

Loss of imprinting

A

Both genes are turned on leading to double growth factor which leads to cancer

Bio 204 (23 decks)

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