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Genetics > GENETICS AND MAN > Flashcards

GENETICS AND MAN Flashcards

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Biology 101 flashcards
1
Q

The study of chromosome number, structure, function, and behavior in relation to gene inheritance, organization and expression.

A

Cytogenetics

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2
Q

Variations in Chromosome number

A

Euploidy
Polyploidy
Aneuploidy

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3
Q

normal number and sets of chromosomes

A

Euploidy

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4
Q

3 or more complete sets of chromosomes

A

Polyploidy

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5
Q

presence of additional or missing individual chromosomes.

A

Aneuploidy

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6
Q

Common Types of Polyploidy

A

Triploidy
Tetraploidy
Pentaploidy

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7
Q

Common Types of Aneuploidy

A

Monosomy
Trisomy

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8
Q

named after Henry Turner
- signs and symptoms may vary significantly, probably showing prenatally or at birth or during infancy and even during teen and adults years of a female.

A

Turner syndrome (Monosomy X)

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9
Q

due to errors in cell division during early fetal development; chromosomal change in only some of the cells

A

Mosaicism

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10
Q

present in some cells together with the x chromosome (while some cells have only 1 copy of the X chromosome)
- Family history does not seem to be a risk factor.

A

Y chromosome material

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11
Q

– named after John Langdon Down
- One of the most common causes of human birth defects
- Symptoms vary from person to person and can range from mild to severe.
- Persons with this condition have an increased risk of certain types of leukemia, which can also cause early death.
- The level of intellectual disability varies, but is usually moderate. Adults with Down syndrome have an increased risk of dementia.

A

Down syndrome (Trisomy 21)

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12
Q

one less chromosome = (23 x 2) – 1 = 45

A

Monosomy

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13
Q

one additional chromosome = (23 x 2) + 1 = 47

A

Trisomy

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14
Q

TYPES OF DOWN SYNDROME:

A
  1. Trisomy 21
  2. Translocation Down syndrome
  3. Mosaic Down Syndrome
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15
Q

A type of Down Syndrome with 95% of the cases

A

Trisomy 21

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16
Q

A type of Down Syndrome with 3% cases, occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “translocated” to a different chromosome rather than being a separate chromosome 21.

A

Translocation Down syndrome

17
Q

A type of Down Syndrome that affects about 2% of the people with down syndrome.

A

Mosaic Down Syndrome

18
Q

named after John Hilton Edwards
- Congenital heart defects
- Growth retardation
- Dysmorphic features
- Facial clefts
- Spina bifida
- Severe developmental delay

A

Edwards Syndrome (Trisomy 18)

19
Q

Trisomy 18 types:

A
  1. Full trisomy 18 – 95% of the cases
  2. Partial trisomy 18 - very rare
  3. Mosaic trisomy 18 – very rare
20
Q

named after Klaus Patau

A

Patau Syndrome (Trisomy 13)

21
Q

Types of Trisomy 13

A
  1. Trisomy 13
  2. Mosaicism
  3. Partial trisomy 13
22
Q
  • Also known as Warkany syndrome after Dr. Josef Warkany
  • A pear-shaped, bulbous nose with upturned nostrils, a protruding lower lip and large ears.
  • Stiff joints with a limited range of movement; clenched or bent fingers and/or toes; deep palm and sole creases; occasionally under-developed nails: missing or small kneecaps. Typically have mild to moderate intellectual disabilities.
  • Most cases have mosaicism
  • Large ears, deep plantar furrows.
  • Spina bifida, renal and ureteral anomalies, CHD
A

Mosaicism Syndrome

23
Q
  • Incidence 1 in 1000 female births
  • Above average stature
  • Normal phenotype
  • Most have learning disabilities
  • Behavioral problems common
  • Many never diagnosed.
A

Trisomy X (47, xxx)

24
Q
  • 1:1000 male births
  • Tall structure
  • Gynecomastia
  • Hypogonadism
  • Infertility
  • Learning disabilities
  • Problems with socialization
  • Many never diagnosed.
A

Klinefelter Syndrome (47, xxy)

25
Q
  • 1/1000 newborn males
  • Tall stature
  • Most phenotypically normal
  • Normal IQ but 50% have learning
    disabilities (language and speech)
  • Many never diagnosed
  • Most males with this syndrome have normal sexual development and are able to father children.
  • Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand tremors or other involuntary movements (motor tics), and behavioral and emotional difficulties are also possible.
A

Jacob Syndrome (47, xyy)

26
Q

weak muscle tone

A

hypotonia

27
Q

hand tremors or other involuntary movements

A

motor tics

28
Q

Factors that influence non-disjunction or premature sister chromatid separation:

A
  • Age
  • Recombination events

The rate of Down syndrome and other trisomies increases with maternal age.

29
Q
  • Common in adults; occurs more often in native americans and people of Asian, African, and South American descent than among people of European descent.
A

Lactase Deficiency

30
Q
  • AR
  • Rare
A

PKU (Phenylketonuria)

31
Q
  • Also known as type I is the most common and most severe form of the condition.
A

Classic Galactosemia (GALT deficiency)

32
Q

An interdisciplinary field of study concerned with the genetic basis of behavior and personality.

A

BEHAVIORAL GENETICS

33
Q
  • Both genes and environment interact to shape human behavior.
  • The fundamental issue is how much a role genetics do play in shaping human behaviors
A

BEHAVIORAL GENETICS

34
Q
  • Genes do not directly produce behaviors.
  • They produce proteins that increase the probability that a behavior will develop under certain circumstances.
A

BEHAVIORAL GENETICS

35
Q
  • Genes can also have an indirect effect.
  • Genes can alter your environment by producing behaviors or traits that alter how people in your environment react to you.
A

BEHAVIORAL GENETICS

36
Q

(Sociobiology) focuses upon functional explanations of how behaviors evolved.

A

Evolutionary Psychology

37
Q
  • Assumes that behaviors characteristic of a species have arisen through natural selection and provide a survival advantage.
  • Examples: differences in peripheral/color vision, sleep mechanisms in the brain, eating habits, temperature regulation.
A

Evolutionary Psychology

38
Q

Some behaviors are more debatable regarding the influence of natural selection.

A

Examples:
* Life span length
* Gender differences in sexual promiscuity
* Altruistic behavior
- Twin studies remain one of the best ways of identifying genetic markers linked to complex behavioral traits.

39
Q

Some behavioral disorders that are influenced by genes

A
  1. Alcoholism
  2. Schizophrenia
  3. Depression

Genetics (8 decks)

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