Chapter 7: Human Genetics Flashcards

1
Q

Reasons why man is an unsuitable research subject (3)

A

a. Man has a long life cycle.
b. Man can not be made to interbreed randomly and can only bear a comparatively small number of progeny.
c. He can not be subjected to rigorous experimental conditions. ( i.e. Closely controlled matings and standardized experiments)

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2
Q

Methods used to study human genetics (2)

A
  • Pedigree Analysis
  • Karyotyping
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3
Q
  • or family histories; Mode of transmission can be revealed
  • to determine if the mode of inheritance is recessive, dominant, partial dominant, autosomal, mitochondrial or sex-linked. Moreover, it also determines the probability of an individual or offspring being affected in the given cross.
A

pedigree analysis

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4
Q
  • stained preparations of mitotic metaphase chromosomes are photographed, individual chromosomes are cut apart and arranged in pairs
  • Through it, one can detect numerical and structural abnormalities.
A

Karyotyping

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5
Q

Inheritance of traits can be observed in __.

A

families

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6
Q

A pedigree indicates the structure of a __ schematically.

A

family

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7
Q

Pedigrees give information on: (2)

A
  • Dominance or recessiveness of alleles
  • Risks (probabilities) of having affected offspring
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8
Q

modes of transmission of hereditary traits

A
  • autosomal dominance
  • autosomal recessive
  • sex-linked dominance
  • sex-linked recessive
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9
Q
  • never skips a generation
  • affected individuals may either be homozygous dominant or heterozygous for the trait.
  • unaffected individuals are all homozygous recessive
A

autosomal dominance

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10
Q
  • Marriage between affected individuals produces offsprings who are also affected by the trait.
  • Affected progenies may also result from mating between unaffected parents if they are heterozygous for the gene pair
A

autosomal recessive

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11
Q
  • CAN (but don’t have to) skip generations
  • shaded individuals are homozygous recessive
  • unshaded individuals that have shaded children must be heterozygous
A

autosomal recessive

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12
Q
  • Every affected person must have at least 1 affected parent
  • Both males and females are affected and capable of transmitting the trait
  • No skipping of generations
  • No alternation of sexes: we see father to son, father to daughter, mother to son, and mother to daughter
A

autosomal dominant

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13
Q
  • Because most matings are with homozygous normal individuals and no offspring are affected
  • Expect increased consanguinity between the parents.
A

autosomal recessive

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14
Q

Autosomal disorders (2)

A
  • Phenylketonuria
  • cystic fibrosis
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15
Q
  • A hereditary disorder due to an autosomally recessive allele
  • Most common disease in the U.S (1 in every 2000 births)
  • Affected individuals die before reproductive age
  • occur as a result of matings between heterozygotes.
  • no homozygotes reproduce.
A

cystic fibrosis

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16
Q

a hereditary disorder characterized by lung congestion and infection and malabsorption of nutrients by the pancreas

A

cystic fibrosis

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17
Q

High frequency of carriers due to overcompensation; average number of children in families with CF child is 25% higher than in normal families (__ of normal children are carriers)

A

2/3

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18
Q

CF gene was identified and sequenced in 1989; encodes a large protein (about 1500 aa) that functions in cell membranes to regulate __ __ inside cells.

A

water balance

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19
Q
  • Defective CF protein prevents __ __ from exiting cells, resulting in excess water inside the cell.
  • All __-__ glands malfunction especially those in the __ and __ systems.
A
  • chloride ions
  • mucus-producing
  • respiratory
  • digestive
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20
Q

Cystic Fibrosis
- Leads to the buildup of thick dry mucus in the __ causing persistent cough and breathing difficulty. Residual mucus also good medium for __ __(pneumonia and other infections)

A
  • lungs
  • bacterial growth
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21
Q

Cystic fibrosis
* Mucus also clogs ducts of the __, blocking the passage of important enzymes; food can not be digested=malnutrition

22
Q

Cystic fibrosis
* unusually high concentration of __ in sweat (2-5 times); detected when parents kiss their babies
* Clinically detected using the __ __- measures concentration of __ in a sample taken from a warmed patch on the child’s back or forearm

A
  • salt
  • sweat test
  • salt
23
Q

__ has no cure; therapeutic abortion the only way
* Possibly gene therapy

A

Cystic fibrosis

24
Q
  • Act as recessive traits in females, but dominant traits in males
  • An affected male cannot pass the trait on to his sons, but passes the allele on to all his daughters, who are unaffected carriers
  • A carrier female passes the trait on to 1/2 her sons
A

X-linked Recessive Disorders

25
X-linked Recessive Disorders * Act as recessive traits in __, but dominant traits in __ * An __ __ cannot pass the trait on to his sons, but passes the allele on to all his daughters, who are __ __ * A carrier female passes the trait on to __ her sons
- females - males - affected male - unaffected carriers - 1/2
26
X-linked Recessive Disorders (4)
- Hemophilia A - fragile X syndrome - Duchenne muscular dystrophy - color blindness
27
- X-linked recessive disorder that that causes physical abnormalities, behavioral issues and a wide range of other health problems, including: Developmental delays. Intellectual disabilities. Learning disabilities. Anxiety. - caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1).
Fragile x syndrome
28
centromeres in the middle of the chromosome
metacentric
29
with centromeres slightly offcenter
submetacentric
30
have centromeres almost at the ends
acrocentric
31
chromosomes have terminal centromeres.
telocentric
32
type of disorder: 22II + I21+ XX or XY (2n=47) (extra copy of one of chromosome 21)
Down syndrome
33
type of disorder: mental retardation, slanting eyes, Mongolian eyelid fold, saddle nose, swollen tongue
down syndrome
34
type of disorder: harelip/cleft palate, serious cerebral, ocular and cardiovascular defect
Patau's syndrome
35
type of disorder: 22II+ I13+ XX or XY (2n=47)
Patau’s Syndrome
36
type of disorder: 22II+I18+XX or XY (extra copy of chromosome 18) (2n=47)
Edward's syndrome
37
type of disorder: malformations in every organ system
Edward's syndrome
38
type of disorder: 22II+ X0 (only has 1 normal X sex chromosome) (2n=45)
Turner's syndrome
39
type of disorder: 22II+XXX (2n=47)
Metafemale
40
type of disorder: 22II+XXY (2n=47)
Klinefelter’s syndrome
41
type of disorder: 22II+XYY (2n=47)
Double Y syndrome
42
type of disorder: sexual infantilism, mental retardation
Turner's syndrome
43
type of disorder: mental retardation, premature, menopause
metafemale
44
type of disorder: underdevelopment in males, sterility, mental retardation
Klinefelter's syndrome
45
type of disorder: antisocialism, aggressiveness, criminal tendencies, low IQ
Double Y syndrome
46
Inherited human traits (8)
- Widow’s Peak - Straight hairline - Hitchhiker's thumb - tongue rolling - bent little finger - cleft chin - attached earlobes - freckles
47
__ ear lobes are inherited as a dominant trait.
Unattached
48
__ ear lobes are inherited as a recessive trait.
Attached
49
Hand-clasping right thumb over left is a __ trait
recessive
50
Hand-clasping left thumb over right is a __ trait
dominant