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PATHOLOGY > LECTURE 8: Developmental Malformation > Flashcards

LECTURE 8: Developmental Malformation Flashcards

1
Q

Every individual is said to be unique in every aspect and this is determined
by the _________.

A

genes in the chromosome

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2
Q

As the genes of the developing fetus interact with the
_______, there are chances that said interactions result to some
alterations that could be expressed as defects

A

fetal environment

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3
Q

It is hereditary when the defect of one parent is transmitted in the gametes through the generations.

A

defect

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4
Q

simply imply that the individual is born with the defect and has no reference to it being hereditary or not.

A

Congenital defects

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5
Q

Experimenting with crossbreeding of garden pea plants,
Mendel showed that although some traits are transmitted to generation of
offspring in an unchanged state.

A

Mendelian Laws of Inheritance

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6
Q

Mendelian Laws of Inheritance

A

Experimenting with crossbreeding of garden pea plants,
Mendel showed that although some traits are transmitted to generation of
offspring in an unchanged state.

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7
Q

physical expression of a trait

A

phenotype

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8
Q

genetic constitution

A

Genotype

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9
Q

laws of inheritance

A
  1. First Law
  2. Second Law
  3. Third Law
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10
Q

First Law

A

a unit of genetic information (gene) is transmitted unchanged from generation to generation

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11
Q

Second Law

A

alternate forms of the gene must segregate during gamete
formation and recombine independently in the offspring to provide a 1:2:1 ratio

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12
Q

This alternate form of gene was later called _________.

A

allele

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13
Q

This alternate form of gene was later called allele, and its transmission outlined the concepts of what?

A

DOMINANCE and RECESSIVITY

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14
Q

Second Law – alternate forms of the gene must segregate during gamete
formation and recombine independently in the offspring to provide a ______ ratio.

A

1:2:1 ratio

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15
Q

Third Law

A

non-allelic traits do not segregate but assort randomly and recombine with a probability representing the product of their independent
probabilities

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16
Q

It do not segregate but assort randomly and recombine with a probability representing the product of their independent probabilities.

A

non-allelic traits

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17
Q

three modes of genetic defect transmission in animals

A
  1. mutant genes of large effect
  2. change in number or morphological state of chromosomes
  3. additive effects of many genes of small effects but influenced by environmental factors.
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18
Q

are expressed according to the foregoing laws of inheritance

A

mutant genes of large effect

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19
Q

the most commonly reported genetic defects in domestic animal species

A

Autosomal Recessive Inheritance (ARI)

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20
Q

ratio of 1:2:1

A

HOMOZYGOUS NORMAL: HETEROZYGOUS: HOMOZYGOUS ABNORMAL

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21
Q

Contains a pair of identical alleles of a given gene

A

homozygous individual

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22
Q

Contains
different alleles for a given gene

A

heterozygous individual

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23
Q

What trait is recessive?

A

aa

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24
Q

What trait is dominant?

A

BB

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25
Q

Some of the recorded cases of Autosomal Recessive Inheritance in farm animals

A

Congenital porphyria (cattle, pig)
Chediak-Hagashi Syndrome (cattle, horse)
Familial polycythemia (cattle)
Congenital hydrocephalus (cattle)
Cerebellar hypoplasia (cattle)
Cerebellar atrophy (sheep)
Inherited goitre (sheep)
Atresia ani (pig)
Cranium bifidum (pig)
Congenital tremor (pig)
Combined immunodeficiency (horse)

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26
Q

Congenital porphyria

A

Cattle
Pig

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27
Q

Familial polycythemia

A

Cattle

28
Q

Inherited goitre

A

Sheep

29
Q

Combined immunodeficiency

A

Horse

30
Q

Chediak-Higashi Syndrome

A

Cattle
Horse

31
Q

Atresia ani

A

Pig

32
Q

Congenital hydrocephalus

A

Cattle

33
Q

Cranium bifidum

A

Pig

34
Q

Cerebellar hypoplasia

A

Cattle

35
Q

Cerebellar atrophy

A

Sheep

36
Q

Congenital tremor

A

Pig

37
Q

Most defects caused by this exhibit distinct
phenotypic defect.

A

Autosomal Dominant Inheritance (ADI)

38
Q

If a __________ affected animal mates with a ___________; each offspring
has 50% risk of being affected

A

heterozygote
homozygote animal

39
Q

If a heterozygote affected animal mates with a homozygote animal; each offspring
has ________ risk of being affected.

A

50%

40
Q

both parents are __________
affected, the risk that the offspring produced are affected increases to 75%.

A

HETEROZYGOTE

41
Q

both parents are heterozygote
affected, the risk that the offspring produced are affected increases to ______.

A

75%

42
Q

Cases reported in farm animals that are expressed by autosomal dominant
inheritance

A

Idiopathic epilepsy
Familial convulsion in cattle

43
Q

In this defect transmission, the defects reside on either the X chromosome
or the Y chromosome of the individual.

A

Sex-linked Inheritance

44
Q

XY chromosome

A

Male species

45
Q

XX chromosome

A

Female species

46
Q

an affected female (XX) is mated to a
normal male (XY), there is 50% chances that the female offspring will carry the
defect, and 50% of the male will inherit the maternal X chromosomes containing
the defect.

A

X-linked

47
Q

An individual with possessing only one allele

A

hemizygous

48
Q

if the allele is recessive to the normal allele, the affected female carrying the allele will not express the defect, but the male who has only one X chromosome has been hemizygous
for the trait and will not carry any normal allele and would express the defect.
TRUE or FALSE

A

True

49
Q

Should the same carrier male of the species be mated to a normal female, ________ of the male offspring will be affected, and the other half will be unaffected and will not transmit the defect.

A

50%

50
Q

Breeding patterns that result in a defect observed to occur in the males only tend to suggest that the defect is what?

A

Y linked

51
Q

In this instance, only the males of the species would express the defect, and the females of the species could neither inherit nor transmit the defect to their offspring.

A

Y linked

52
Q

human the diploid number

A

46

53
Q

In gametes, the haploid number is?

A

23

54
Q

written as the diploid number of chromosomes and the sex chromosome

A

karyotype

55
Q

diploid number of chromosome and the sex chromosome

A

46

56
Q

two types of chromosomal abnormalities

A

NUMERICAL abnormality
STRUCTURAL abnormality

57
Q

Abnormalities in the number of chromosomes and involves either polyploidy or aneuploidy.

A

heteroploidy

58
Q

The condition when an individual is born and carries with its multiples of the haploid number of its chromosomes.

A

Polyploidy

59
Q

in polyploidy, the number may be what?

A

69 (triploidy) or 92 (tetraploidy)

60
Q

Individuals carrying this abnormal number of chromosomes are usually severely deformed and usually are aborted.

A

Polyploidy

61
Q

involves either an increase or decrease in
the normal number of chromosomes without regard to completion of full haploid
set.

A

Aneuploidy

62
Q

It may involve somatic chromosomes or sex
chromosomes, or both.

A

aneuploid state

63
Q

If there are three sex chromosomes instead of two (e.g., XXY, or XYY), the condition is called what?

A

trisomy

64
Q

if only one sex chromosome occur (e.g., OX, OY), the condition is called what?

A

monosomy

65
Q

2 types of heteroploidy

A

POLYPLOIDY
ANEUPLOIDY

66
Q

Heteroploidy occur as a result of nondisjunction of chromosomes during
the anaphase stage in meiosis of germ cells or in mitosis at the zygote, and result
to _______.

A

mosaicism

67
Q

The presence of two or more populations of cells with different genotypes

A

mosaicism

PATHOLOGY (10 decks)

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