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

24
Q

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

25
The first meiotic division distributes the chromosome pair into
Separate cells
26
The second meiotic division separates the strands of the duplicated chromosome and
Distributes to an individual gamete
27
Sex chromosomes determine the
Sex of the offspring
28
Are sex chromosomes matched?
No
29
Female chromosome is larger and is depicted as?
X
30
Male chromosome is small and mainly determines sex. Depicted by
Y
31
Non sexual traits carried on the sex chromosome are sec linked traits and most are
X-linked traits
32
By meiosis each sperm received
An X or a Y
33
By meiosis each egg receives only
An X
34
Normal females have
2 X chromosomes - XX as pair 23
35
Normal males have
X and Y chromosome -XY as pair 23
36
Traits carried on a sex chromosome are termed
Sex linked traits
37
Most sex linked traits are carried on the
X chromosome and are best described as X-linked
38
Most sex linked traits are
Recessive
39
Hereditary traits can be
Observable (skin, eyes, hair color, facial features) Or less clearly defined (weight, body build, life span, disease susceptibility)
40
Human traits and genetic diseases can be determined by
A single pair of genes (less common) Or multifactorial inheritance
41
Multifactorial inheritance refers to
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
Gene expression is influenced by
Gender Other genes (codominance, incomplete dominance) The environment
43
Genetic mutation is a change in the
Genetic code within a gene or chromosome
44
Genetic mutation may be
Hereditary
45
Genetic mutation is often caused by
Mutagens
46
What are some agents that cause mutations
Chemicals, radiation, drugs or viruses
47
Genetic mutation: what agents cause damage during embryonic development
Teratogenic agents (teratogens)
48
Chromosomal breakage is aka
Non disjunction
49
Most common non hereditary genetic disorder
Down syndrome or trisomy 21 *3 chromosomes at the 21 position so 47 in total
50
What is turner syndrome
Aka monosomy X Only one sex cell is present, the X chromosome -commonly self aborts (1%survive and are born)
51
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
Kkinefelter Syndrome
52
Congenital disease means
Present at birth (May or may not be hereditary)
53
Hereditary diseases means
Genetically transmitted (May not be evident at birth and manifests later in life)
54
Huntington disease is hereditary and is characterized by? What chromosome does it affect?
Characterized by progressive degeneration of the brain Affects chromosome 4.
55
Causes of congenital disorders?
Often idiopathic (unknown cause) Infections/toxins transmitted from mother Teratogen Ionizing radiation Alcohol intake Cigarette smoking Poor nutrition
56
Karyotype refers to
The number and visual appearance of chromosomes of a cell. -an individuals complete set of chromosomes
57
What is amniocentesis
Involves collection of fetal cells floating in amniotic fluid used to detect abnormalities