Heredity Flashcards

1
Q

Distinct segments of chromosomal DNA that are transmitted from parent to offspring and cary the genetic code

A

Genes

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2
Q

Genes determine the

A

Hereditary traits

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3
Q

Each gene may have multiple variants or

A

Alleles

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4
Q

Chromosomes and their genes exist in

A

Pairs

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5
Q

How many chromosomes in humans

A

46 chromosomes (23 pairs)

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6
Q

Chromosomes that are not involved in sex determination are

A

Autosomes (22 pairs of these or 44 chromosomes)

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7
Q

The paired autosomes carry genes for the

A

Same traits at the same sites as each other

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8
Q

Each variant of autosomes is known as an

A

Allele

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9
Q

Homozygous means

A

Botha genes are same

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10
Q

Heterozygous means

A

The two genes differ

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11
Q

Dominant genes are always

A

Expressed, if present

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12
Q

Dominant genes need to inherit from only

A

One parent

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13
Q

Recessive genes are only expressed if

A

Homozygous
(Need to inherit from both parents)

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14
Q

Recessive traits MUST HAVE

A

Homozygous alleles

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15
Q

Phenotype refers to

A

An observable or testable characteristic
(Ex. Eye colour, blood type)

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16
Q

Genotype refers to

A

Ones genetic makeup

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17
Q

Homozygous recessive example

A

bb
*phenotype is recessive

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18
Q

Homozygous dominant example

A

BB
*phenotype is dominant

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19
Q

Heterozygous example

A

Bb

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20
Q

A punnet square is used to determine

A

The probability of inheriting genetic traits

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21
Q

Capital letters represent

A

Dominant allele

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22
Q

Lower case letter represents

A

Recessive allele

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23
Q

Reproductive cells are produced by

A

Meiosis

24
Q

Meiosis is the process that divides the # of chromosomes in half. How many meiotic divisions

A

2

25
Q

The first meiotic division distributes the chromosome pair into

A

Separate cells

26
Q

The second meiotic division separates the strands of the duplicated chromosome and

A

Distributes to an individual gamete

27
Q

Sex chromosomes determine the

A

Sex of the offspring

28
Q

Are sex chromosomes matched?

A

No

29
Q

Female chromosome is larger and is depicted as?

A

X

30
Q

Male chromosome is small and mainly determines sex. Depicted by

A

Y

31
Q

Non sexual traits carried on the sex chromosome are sec linked traits and most are

A

X-linked traits

32
Q

By meiosis each sperm received

A

An X or a Y

33
Q

By meiosis each egg receives only

A

An X

34
Q

Normal females have

A

2 X chromosomes
- XX as pair 23

35
Q

Normal males have

A

X and Y chromosome
-XY as pair 23

36
Q

Traits carried on a sex chromosome are termed

A

Sex linked traits

37
Q

Most sex linked traits are carried on the

A

X chromosome and are best described as X-linked

38
Q

Most sex linked traits are

A

Recessive

39
Q

Hereditary traits can be

A

Observable (skin, eyes, hair color, facial features)
Or less clearly defined (weight, body build, life span, disease susceptibility)

40
Q

Human traits and genetic diseases can be determined by

A

A single pair of genes (less common)
Or multifactorial inheritance

41
Q

Multifactorial inheritance refers to

A

Result of 2 or more gene pairs acting together
-can include environmental factors
-produces a wide range of variation in traits such as weight, height, skin colouration

42
Q

Gene expression is influenced by

A

Gender
Other genes (codominance, incomplete dominance)
The environment

43
Q

Genetic mutation is a change in the

A

Genetic code within a gene or chromosome

44
Q

Genetic mutation may be

A

Hereditary

45
Q

Genetic mutation is often caused by

A

Mutagens

46
Q

What are some agents that cause mutations

A

Chemicals, radiation, drugs or viruses

47
Q

Genetic mutation: what agents cause damage during embryonic development

A

Teratogenic agents (teratogens)

48
Q

Chromosomal breakage is aka

A

Non disjunction

49
Q

Most common non hereditary genetic disorder

A

Down syndrome or trisomy 21
*3 chromosomes at the 21 position so 47 in total

50
Q

What is turner syndrome

A

Aka monosomy X
Only one sex cell is present, the X chromosome
-commonly self aborts (1%survive and are born)

51
Q

Chromosomal disorder where 1 in 600 males are affected. Caused by the presence of 2 or more X chromosomes in a male. Affects males physical and cognitive development

A

Kkinefelter Syndrome

52
Q

Congenital disease means

A

Present at birth
(May or may not be hereditary)

53
Q

Hereditary diseases means

A

Genetically transmitted
(May not be evident at birth and manifests later in life)

54
Q

Huntington disease is hereditary and is characterized by? What chromosome does it affect?

A

Characterized by progressive degeneration of the brain
Affects chromosome 4.

55
Q

Causes of congenital disorders?

A

Often idiopathic (unknown cause)
Infections/toxins transmitted from mother
Teratogen
Ionizing radiation
Alcohol intake
Cigarette smoking
Poor nutrition

56
Q

Karyotype refers to

A

The number and visual appearance of chromosomes of a cell.
-an individuals complete set of chromosomes

57
Q

What is amniocentesis

A

Involves collection of fetal cells floating in amniotic fluid used to detect abnormalities