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PATHOLOGY > LECTURE 8: Developmental Malformation > Flashcards

LECTURE 8: Developmental Malformation Flashcards

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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
Some of the recorded cases of Autosomal Recessive Inheritance in farm animals
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)
26
Congenital porphyria
Cattle Pig
27
Familial polycythemia
Cattle
28
Inherited goitre
Sheep
29
Combined immunodeficiency
Horse
30
Chediak-Higashi Syndrome
Cattle Horse
31
Atresia ani
Pig
32
Congenital hydrocephalus
Cattle
33
Cranium bifidum
Pig
34
Cerebellar hypoplasia
Cattle
35
Cerebellar atrophy
Sheep
36
Congenital tremor
Pig
37
Most defects caused by this exhibit distinct phenotypic defect.
Autosomal Dominant Inheritance (ADI)
38
If a __________ affected animal mates with a ___________; each offspring has 50% risk of being affected
heterozygote homozygote animal
39
If a heterozygote affected animal mates with a homozygote animal; each offspring has ________ risk of being affected.
50%
40
both parents are __________ affected, the risk that the offspring produced are affected increases to 75%.
HETEROZYGOTE
41
both parents are heterozygote affected, the risk that the offspring produced are affected increases to ______.
75%
42
Cases reported in farm animals that are expressed by autosomal dominant inheritance
Idiopathic epilepsy Familial convulsion in cattle
43
In this defect transmission, the defects reside on either the X chromosome or the Y chromosome of the individual.
Sex-linked Inheritance
44
XY chromosome
Male species
45
XX chromosome
Female species
46
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.
X-linked
47
An individual with possessing only one allele
hemizygous
48
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
True
49
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.
50%
50
Breeding patterns that result in a defect observed to occur in the males only tend to suggest that the defect is what?
Y linked
51
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.
Y linked
52
human the diploid number
46
53
In gametes, the haploid number is?
23
54
written as the diploid number of chromosomes and the sex chromosome
karyotype
55
diploid number of chromosome and the sex chromosome
46
56
two types of chromosomal abnormalities
NUMERICAL abnormality STRUCTURAL abnormality
57
Abnormalities in the number of chromosomes and involves either polyploidy or aneuploidy.
heteroploidy
58
The condition when an individual is born and carries with its multiples of the haploid number of its chromosomes.
Polyploidy
59
in polyploidy, the number may be what?
69 (triploidy) or 92 (tetraploidy)
60
Individuals carrying this abnormal number of chromosomes are usually severely deformed and usually are aborted.
Polyploidy
61
involves either an increase or decrease in the normal number of chromosomes without regard to completion of full haploid set.
Aneuploidy
62
It may involve somatic chromosomes or sex chromosomes, or both.
aneuploid state
63
If there are three sex chromosomes instead of two (e.g., XXY, or XYY), the condition is called what?
trisomy
64
if only one sex chromosome occur (e.g., OX, OY), the condition is called what?
monosomy
65
2 types of heteroploidy
POLYPLOIDY ANEUPLOIDY
66
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 _______.
mosaicism
67
The presence of two or more populations of cells with different genotypes
mosaicism

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