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MCM Exam 2 > Principles of Genetic Inheritance > Flashcards

Principles of Genetic Inheritance Flashcards

1
Q

Chromosomes common in both genders

A

Autosomes

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2
Q

This disease is a mitochondrial disease that affects many body systems, particularly brain and nervous system, and muscles.

– Stroke and dementia – Lactic acidosis

A

Mitochondrial encephalomyopathy, lactic acidosis, and
stroke-like episodes (MELAS)

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3
Q

Example of X-linked Recessive Disease.

A

Duchenne Muscular Dysterophy

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4
Q

Turner Syndrome Characteristics

A

45, XO karyotype

Female (no Y)
Short stature

Ovarian hypofunction/premature Ovarian failure- require hormone therapy

Most are infertile

~30% webbed neck

Low hairline on neck

CV defects (coarctation of aorta, bicuspid aortic valve)

Normal intelligence

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5
Q

Is pyloric stenosis more common in men or women?

A

Men, they need less risk genes.

Children born of affected males are less likely to get it as well.

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6
Q

Probabilty rules

A

Multiply individual probabilities for “and”

Add for “or”

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7
Q

When environmental factors cause variation
in the trait, the term ______ is used

A

Multifactorial

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8
Q

Process by which monosomy and trisomy occur.

A

Non-Disjunction

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9
Q

Meiosis reduces the total number of chromosomes by ___ producing ____ number of haploid gametes

A

1/2, 4

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10
Q

Order and nomenclature is divided into how many sections

A

Arm P / Q

Region 2 / 1

Band 1,2,2 / 1,2,3,4

Subbands 321,21,54321 / 3,123,1234.123

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11
Q

Describe the structure of mitochondrial DNA

A

16,569 bp, double stranded, circular

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12
Q

The frequency at which a gene manifest itself is called _____.

A

penetrance

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13
Q

Klinefelter Syndrom Characteristics

A

– Some with no/limited symptoms
– Varying degrees of cognitive, social,behavioral, learning difficulties

– Primary hypogonadism (low T)

– Small and/or undescended testes

– Gynecomastia

– Tall stature

– Infertility

– Can be mosaic

– Variability in X numbers can increase
symptoms (48, XXXY; 49, XXXXY)
47, XXY

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14
Q

Name the phases in order for mitosis

A

Interphase

Prophase

Prometaphase

Metaphase

Anaphase

Telophase

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15
Q

Phase of Mitosis at which one copy of each chromosome (chromatid) and 1/2 of cytoplasm/organelles are distributed between the two daughter cells

A

Cell Division

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16
Q

Law of Independent assortment in Mendelian Genetics

A

Genes are inherited independently of one another

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17
Q

What is Trisomy 21?

A

Downs syndrom (47, XX + 21)

Most common trisomy

Inreased risk with maternal age

Can also occur due to translocation 46, CU

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18
Q

Multifactoral diseases that due not show a phenotypic bell curve have an underlying ________. In order for disease to become present they must pass the _________.

A

Liability distribution

Threshold of liability

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19
Q

X-Linked Dominant Disease

A

Very rare; No carriers

Hyophosphatemia

Low phosphorus in blood due to defective reabsorption of phosphate in kidney due

Deficient absorption of calcium in intestine causing sofenting of bone (Rickets)

Vitamin D metabolism abnormal

Short stature

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20
Q

How are genomic imprints passed down?

A

They’re not!

Epigenetic imprints remain throughout the lifespan of somatic cells.

In germ cells, epigentic imprints are reset at each generation.

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21
Q

Normal number of chromosomes

A

Euploid

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22
Q

Paternal deletion of region of chromosome 15

A

Prader Willie Syndrome

Short stature, hypotonia, small
hands/feet, obesity, mild to moderate
intellectual disability

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23
Q

What makes multifactoral inheretance recurrent risk more likely?

A

Environmental factors

More then one family member affected

Expression is more severe

Less commonly affect proband is more likely to pass on

More related the parents = Higher chance

24
Q

Disease example given for Reduced penetrance

A

Retinoblastoma

autosomal dominant inheritance

Phenotype occurs in 90% of individuals inheriting gene

25
Q

Name the stages of meiosis in order

A

One round of DNA replication

two rounds of nuclear division

Prophase I => Metaphase I => Anaphase I => Telophase I => Metaphase II => Anaphase II

26
Q

Disease example of Locus Heterogeneity.

A

OSTEOGENESIS IMPERFECTA

Brittle-bone disease – Mutations in collagen genes (two loci: chromosome 7 and 17), either mutation exhibits the same phenotype

27
Q

Hardy Weinberg Principles

A

p2= AA

q2=aa

2pq= Aa

p + q = 1

28
Q

Condition in which cells from a patient have different genotypes. List three examples of disease.

A

Mosaicism

Downs Syndrome

Klinefelter Syndrome

Turner Syndrome

29
Q

What is the Down’s Syndrome Karyotype?

A

Some 46XX, some 47XX, +21

30
Q

What is Trisomy 18?

A

47, XX +18; Edwards Syndrome
– Abnormal development
– Most perinatal death within 1 year (10% of
live births survive to 10 y.0.)

31
Q

Law of segregation in Mendelian Genetics

A

Each gamete recieves one copy of a gene (an allele).

32
Q

In meiosis, ______ can produce new combinations of genes.

A

Homologous recombination

33
Q

What is the choice of an X chromosone to be active at random called

A

Lyonization or X-activation

34
Q

What is it called when the same genotype has multiple phenotype.

A

Pleiotropy

Example: PKU

35
Q

Plane a gene locates on a chromatid

A

Loci

36
Q

What aspects contribute to genetic variability among homologous chromosomes made during meiosis?

A

Mutations of sequence

(Cross-over exchange) Homologous recombinations

Random segregation of homologs

37
Q

Example given of autosomal recessive disease

A

Tyrosinase-Negative Albinism

38
Q

_____ undergo mitosis, but divide asymmetrically, resulting in one stem cell, and one daughter cell

A

Stem Cells

39
Q

What is the Klinefelter Syndrome Karyotype?

A

some 46XY, some 47XXY

40
Q

Why is the mutation rate higher with Mitochondrial DNA? By what amount?

A

Higher by 10X

Lacks DNA repair mechanisms

Damage from free oxygen radicals released during oxidative phosphoryalation.

41
Q

Consaquinous matings

A

Matings between relatives

Studies show mortality rates among offspring generated by cousins is up 9%

42
Q

What is the Turner Syndrome Karyotype?

A

some 46XX, some 45XO

43
Q

What is Leber’s hereditary optic neuropathy (LHON)?

A

Mitochondrial disorder

• Typically early teens or 20’s
Degeneration of retinal ganglion cells
Acute or subacute loss of central vision

44
Q

Presence of a complete extra set of chromosomes in a cell

A

Polyploidy, often seen in plants

45
Q

What is Trisomy 13?

A

47, XX +13; Patau Syndrome
– Severe developmental abnormalities
– Most perinatal death within 1 week (13% of live births survice to 10 y.o.)

46
Q

Genomic imprinting works through what method

A

Through methylation of 5’ region of gene and chromatin condensation

At least 100 human genes are known to be imprinted

47
Q

Traits that are thought to be caused by a combined effect of multiple genes are called ______.

A

Polygenic

48
Q

Combination of non-disjunction and genomic imprinting

A

Uniparental Disomy

If two chromosomes are
inherited from the same parent
(Uniparental Disomy), they
will have parent-specific
imprinting

This results in no gene product

49
Q

Phase of Mitosis at which chromosome duplication occurs

A

Interphase

50
Q

Deletion of a region of Maternal chromosome 15

A

Angelman Syndrome

Severe intellectual disability, seizures,
ataxic gait

51
Q

Example of multifactoral inherited disease

A

Pyloric Stenosis

Muscular hypertrophy between stomach and
duodenum – leading to vomiting and obstruction

52
Q

What is the term related to the range of phenotypes that vary between indivuals with a specific genotype?

What is a disease example

A

Variable expressitivity

Neurofibromatosis = tumor-like growths called neurofibromas, spots differ in size shape and position.

53
Q

Single disorder, trait, or pattern of traits caused by mutations in genes at different chromosomal loci.

A

Locus Heterogeneity

54
Q

Cells with a missing or addition individual chromosome

A

Monosomy, trisomy

55
Q

Polygenic and multifactorial genes follow what type of distribution.

A

A bell curve.

MCM Exam 2 (14 decks)

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