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House AMP > Basic Genetics > Flashcards

Basic Genetics Flashcards

1
Q

_____ are the basic units of heredity

A

Genes

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2
Q

Each gene occupies a ______________ locus

A

fixed chromosomal

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3
Q

A _____ is a section of a long ____ molecule, carrying information for the ___________

A

gene; DNA

construction of a protein.

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4
Q

protein products of genes have a specific effect on the phenotype
T/F

A

T

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5
Q

Gene products influence or determine traits such as _____,______

A

blood type, skin colour

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6
Q

An allele is one of the many forms of a given gene

T/F

A

T

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7
Q

Genes, are carried by _______.

A

chromosomes

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8
Q

Traits- any detectable _______ characteristic of an individual; Also refers to the _____ characteristics of an individual i.e. traits such as height, eye color and blood type.

A

phenotypic; inherited

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9
Q

Phenotype- observed _____,_______, or __________characteristics (determined by his ______ and _______ )

A

physical, physiologic, or biochemical

genotype and environment

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10
Q

Allele- one of two or more _________, may arise as a result of _____

Mutation- A mutation is a ______ change in DNA structure

Locus- the ________ of a gene on a chromosome

Homozygous- having ______ alleles at a given chromosomal locus specifying a particular trait

Heterozygous- having a pair of _________ alleles at a given chromosomal locus

A

variants of a given gene; mutation

permanent; unique position

identical; non-identical

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11
Q

Haplo-sufficiency: One functioning allele ___________

Haplo-insufficiency: One normal allele ______________

A

provides enough protein for normal function.

cannot provide enough protein for normal function.

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12
Q

Acrocentric chromosome have satellite

T/F

A

T

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13
Q

Acrocentric chromosome

A chromosome in which the ___________________

A

centromere is very close to one end.

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14
Q

A submetacentric chromosome is a chromosome ___________________________

A

whose centromere is located near the middle

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15
Q

A chromosome with equal chromosomal arms is termed _______ chromosome.

A

metacentric

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16
Q

The complete collection of an organisms genetic material is called a ________

A

Genome

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17
Q

the total set of different chromosomal DNA molecules in a cell doesn’t include mitochondrial DNA

T/F

A

F

It does

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18
Q

The construction of a human was previously estimated to require ______ to ______ genes, however the HGP has revealed that only _______-______ genes is required (about the same as that of a _______ plant with ______ genes!!).

A

100,000 to 150,000

20,000 – 25,000

Mustard plant

26,000

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19
Q

Lifetime frequency of genetic disease in a population is about ___ per 1000

____% of first trimester abortuses have chromosomal abnormalities

By the _____th year of life 5% of the population would have developed a disease with a significant genetic component

A

670

50

25

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20
Q

Genetic disease results from ________

Every individual has about ___-__ mutant
genes

A

mutations

5-8

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21
Q

Classification:
1.____ mutations

2.______ mutations

3.______ mutations

A

Gene

Genome

Chromosomal

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22
Q

Classification of Genetic Disorders

Classical
 Mendelian disorders – ______ mutation of ____ effect
 Multifactorial Disorders – _______ mutation of ____ effect

Cytogenetic disorders

_______ mutations
 _______ mutations

A

single gene ; large

multiple genes ; small

Chromosomal

Genomic

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23
Q

Gene Mutations

Are microscopic mutations

T/F

A

F

submicroscopic

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24
Q

Gene mutations

Include:
1. _______
2.______
3. ________

A

Point mutations

Insertion

Deletion

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25
Q

Gene mutation

Include:
1. Point mutations- _____________
2. Insertion- of ________________
3. Deletion- of _____________
-2 & 3 are _______ mutations

A

substitution of a single nucleotide base by another base

1 or more base pairs into DNA

1 or more base pairs from DNA

frameshift

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26
Q

Consequences of Gene Mutations

• Alter the meaning of the genetic code- ______
_______
_______

•Failure of _______

•Production of abnormal proteins resulting in

______ of function e.g. abnormal ____ in osteogenesis imperfecta

______ of function e.g. ______ repeats in Huntington’s disease produce neurotoxic protein

A

Missense mutation
Nonsense mutation
Frameshift mutation

transcription

Loss ; collagen

Gain; trinucleotide

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27
Q

Chromosomal Mutations

Rearrangement of genetic material leading to ___________ in the chromosome

A

visible structural changes

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28
Q

Chromosomal Mutations

 Includes:

  1. ________
  2. _______ formation
  3. _________
  4. _______
    5.____________ formation
A

Translocations

Isochromosome

Deletions

Inversions

Ring chromosome

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29
Q

Genomic Mutations

Loss or gain of _______ resulting in ___________________

A

whole chromosomes

monosomy or trisomy (Aneuploidy)

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30
Q

Genomic Mutations

Transmitted frequently

T/F

With reason

A

F

only infrequently because most are incompatible with life

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31
Q

Aneuploidy - cell or organism with _______________________________ i.e. fewer or more chromosomes than usual

A
32
Q

Causes of Aneuploidy

1.________ of _________ at the _____ meiotic division
2. _______ of the ________ in a chromosome at the ______ meiotic division
3. Non-separation of the _______ in a chromosome during _____ divisions
4. ______ lag

A

Non-disjunction; homologous chromosomes ; 1st

Non-separation ; two chromatids; 2nd

two chromatids ; somatic cell

Anaphase

33
Q

TYPES of inheritance

________ INHERITANCE
________ INHERITANCE

A

CLASSICAL

NON CLASSICAL

34
Q

Principles of classical Inheritance

Mendel’s 1st Principle (The law of ______)

Mendel’s 2nd Principle (The law of ____________)

A

segregation

independent assortment

35
Q

Mendel’s 1st Principle (The law of segregation)

Genes segregate in the formation of ______

A

sex cells.

36
Q

Mendel’s 2nd Principle (Law of Independent Assortment)

The expression of a gene for any single trait is ______________

A

usually not influenced by the expression of another trait

37
Q

Patterns Of Inheritance

Classical
__________
_____________

Non-classical
 _____ Inheritance
________ Inheritance
_____________
____________

A

Dominant-Recessive Inheritance

Sex-linked (XorY Linked) Inheritance

Polygenic; Mitochondrial; Genomic imprinting; Gonadal mosaicism

38
Q

Patterns Of Inheritance

Non-classical
 Polygenic Inheritance –dependent on the interaction of _______
 Mitochondrial Inheritance –transmitted by ____________
 Genomic imprinting
 Gonadal mosaicism

A

numerous genes

genes present on mitochondrial chromosome (a.k.a. maternal inheritance)

39
Q

___________ (dwarfism)

A

Achondroplasia

40
Q

Achondroplasia

Dominant or recessive?

Autosomal or Sex linked?

A

Dominant

Autosomal

41
Q

Neurofibromatosis

Autosomal dominant or recessive?

A

Dominant

42
Q

In autosomal dominance

Patient may have unaffected parents

T/F

With reason

A

T

Frequency depends on reproductive fitness
↓Penetrance and Variable Expressivity (V.E.) may alter Clinical features

43
Q

Huntington’s disease

The gene for HD contains the instructions for making a large protein called _______.
 An abnormal HD gene results in the production of __________
 This abnormal protein builds up & causes _______, starting with those that are in the _______, a region of the brain that helps _________

A

huntingtin

abnormal huntingtin protein,

brain cells to die

basal ganglia; coordinate movement

44
Q

At present, there is a cure for HD

T/F

A

F

There isn’t

45
Q

Neurofibromatosis 1 (NF1)

Also known as _______disease

Characterized by neurofibromas confined to the _______,______, and _______

It is also associated with _______ (café au lait spots),  freckles in the _____ and ____ region

_______ and _______ of the Eye (Lisch nodules)

A

Von Recklinghausen’s

skin, peripheral nerves and spinal nerve roots.

hyperpigmented macules

axilla and inguinal

optic gliomas and iris hamartomas

46
Q

iris hamartomas are also called _______

A

Lisch nodules

47
Q

Marfan Syndrome

 Rare inherited disorder of _____ resulting in
 abnormalities of the eyes, lungs, heart, bones, and blood vessels

Characteristic features include
 Unusually __________
 ____sightedness, tendency for the _____ of the eye to be ______.
 Weaknesses in the ______ leading to severe problems of the _____ and ____

A

connective tissues

long, slender arms, legs, and fingers;

Near; lenses; dislocated

blood vessels ; heart and aorta

48
Q

Marfan syndrome

Autosomal or sex linked?

Dominant or recessive?

A

Autosomal dominant

49
Q

Single largest category of Mendelian disorder is ????

A

Autosomal recessive

50
Q

In autosomal recessive

There is a/an ____eased incidence of parental consanguinity

A

incr

51
Q

Albinism

AR or AD?

A

AR

52
Q

Sickle Cell Anaemia

AR or AD?

A

AR

53
Q

Late onset of disease
Early onset of disease

AD or AR?

A

AD

AR

54
Q

haemophilia

Autosomal or X linked or Y linked

Dominant or recessive

A

X linked

recessive

55
Q

DMD

Autosomal or X linked or Y linked

Dominant or recessive

A

X linked

Recessive

56
Q

______ muscular dystrophy is a milder form of Duchenne muscular dystrophy.

A

Becker

57
Q

Hypophosphatemic (vitamin D resistant) Rickets

Autosomal or X linked or Y linked

Dominant or recessive

A

X linked

Dominant

58
Q

X-Linked Dominant Inheritance

Affects either sex, but more _____ than _____

A

females

males

59
Q

X-Linked Dominant Inheritance

There is male to male transmission

T/F

A

F

None

60
Q

X-Linked Dominant Inheritance

The child of an affected female, irrespective of its sex, has a ___% chance of being affected

___ the daughters , _____ of the sons, of an affected male are affected

A

50

all

but none

61
Q

hairy pinnae

Autosomal or X linked or Y linked

Dominant or recessive

A

Y linked

Dominant

62
Q

Y-linked Inheritance

 Affects _____ gender

A

only males

63
Q

Y-linked Inheritance

All ____ of an affected male are affected

A

sons

64
Q

TRISOMY ____ (Down’s syndrome)

A

21

65
Q

TRISOMY ___ (Edward’s syndrome)

A

18

66
Q

2nd most common autosomal aberration??

A

TRISOMY 18

67
Q

2nd most common multiple malformation syndrome??

A

TRISOMY 18

68
Q

Genetic Defects in Trisomy 18
1. ________-(90%)
2. ________-(10%)
3. ________ (very rare)

A

Meiotic nondisjunction

Mosaicism

Translocations

69
Q

Sex chromosome disorders

Are often easy to diagnose at birth
T/F

many are 1st recognised at ____

A

F

difficult

Puberty

70
Q

Sex chromosome disorders

The higher the number of sex chromosomes in both sexes the more the likelihood of _______

A

mental retardation

71
Q

_______ disorders of sex chromosomes are far more common than those related to ___________

A

Karyotypic

autosomal aberrations.

72
Q

Which are better tolerated between Sex chromosome imbalances and autosomes imbalances

A

Sex chromosome imbalances are also better tolerated than those of autosomes.

73
Q

Klinefelter - ____

Turner syndrome -____

Mixed Gonadal Dysgenesis (MGD)-______

A

47XXY

45 X

45X/46XY

74
Q

Similarity between prader willi syndrome and angelman syndrome

A

Both exhibit mental retardation

75
Q

Differences between prader willi syndrome and angelman syndrome

Muscle tone
Nickname
Body ish?
Behavior

A

Hypotonia; seizures
Floppy babies; happy puppets
Small hands, feet and short stature; ataxic gait
Hyperphagia; inappropriate laughter

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