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CYTOGENETICS > MENDELIAN GENETICS & INHERITANCE PATTERNS > Flashcards

MENDELIAN GENETICS & INHERITANCE PATTERNS Flashcards

1
Q

MENDEL’S LAW

A

Law of segregation
Law of independent assortment
Law of complete dominance

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2
Q

unit of heredity

A

Gene

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3
Q

different form of the same gene

A

Allele

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4
Q

genes that have identical traits (TT)

A

Homozygous

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4
Q

a trait that always appears

A

Dominant

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5
Q

a variant that is masked by the presence of a dominant trait but reappears in subsequent generations

A

Recessive

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6
Q

alleles that have different traits (Tt)

A

Heterozygous

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7
Q

produced an offspring called the F1 generation (Filial generation).

A

Parental generation (P-generation)

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8
Q

F1 self-fertilization producing

A

F2 (Filial 2 generation)

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9
Q

The law of segregation predicts that the phenotypes of the F2 generation will be tall and dwarf in a ratio of?

A

3:1

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10
Q

An easy way to predict the outcome of simple genetic crosses and self-fertilization experiments

A

Punnett Square

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11
Q

Punnett square is originally proposed by ___________

A

Reginald Punnett

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12
Q

Genotypes of a Punnett square

A

TT, (2) Tt, tt

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13
Q

Two different genes randomly assort their alleles during the
formation of haploid cells.

A

LAW OF INDEPENDENT ASSORTMENT

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14
Q

Genes of organism

A

Genotype

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15
Q

Observable trait of organism

A

Phenotype

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16
Q

The independent assortment has _________ ratio is the expected outcome when heterozygotes for two traits are allowed to self-fertilize.

A

9 : 3 : 3 : 1 ratio

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17
Q

is a condition in which the
phenotype of a heterozygote is intermediate between the
corresponding homozygous individuals.

A

Incomplete dominance

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18
Q

The phenomenon in which a heterozygote has greater reproductive success compared with either of the corresponding homozygotes is called

A

overdominance, or
heterozygote advantage.

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19
Q

Defect in hemoglobin

A

Sickle anemia

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20
Q

two alleles are both expressed in the heterozygous individual
is called

A

codominance

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21
Q

relates the behavior of chromosomes to the Mendelian inheritance traits

A

CHROMOSOME THEORY OF INHERITANCE

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22
Q

When studying human traits, however, researchers cannot control parental crosses. Instead, they must rely on the information contained within family trees, also called

A

Pedigrees/Pedigrees of Analysis

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23
Q

Follow the well-known mendelian patterns of inheritance.

A

Single-gene defects (mutations)

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24
Q

Mutations involving single genes follow one of three patterns of inheritance:

A

Autosomal dominant, Autosomal recessive,
or X-linked.

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25
Q

A single-gene mutation may have many phenotypic effects

A

Pleiotropy

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26
Q

mutations at several genetic loci may produce the same trait

A

Genetic Heterogeneity

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27
Q

Disorders of autosomal dominant inheritance are manifested in the heterozygous state, so at least one parent in an index case usually is affected.

A

Autosomal Dominant inheritance

28
Q

A ___ reduction in the normal gene product is associated with clinical signs and symptoms.

A

50%

29
Q

Proteins

A

membrane receptors, transport proteins, sturctural proteins

30
Q

An affected person has at least one affected parent
An affected person has at least a ___ chance of passing the disorder to their children

A

50%

31
Q

Disorders of autosomal recessive inheritance are manifested in the homozygous state. They occur when both of the alleles at a given gene locus are mutants.

A

Autosomal Recessive inheritance

32
Q

IN Autosomal Recessive inheritance, In many cases, ______are affected by the mutation

A

enzymes

33
Q

Linked to mutations in genes on the X chromosome.
The _____________ alleles can be dominant or recessive.

A

X-linked inheritance

34
Q

Heterozygous female carriers transmit them only to

A

sons

35
Q

An affected male does not transmit the disorder to sons, but

A

all daughters are carriers.

36
Q

is an autosomal dominant movement disorder associated with degeneration of the striatum (caudate and putamen).

A

HUNTINGTON’S DISEASE

37
Q

Pathogenesis of Huntington’s disease

A

CAG trinucleotide repeat expansions in a gene located on 4p16.3 that encodes the protein huntingtin.

38
Q

Gene 4p16.3 code for the protein

A

Huntingtin

39
Q

Gene composition of Huntington’s Disease

A

11-34 CAG

40
Q

CAG repeat expansion = more CAG =

A

Glutamine

41
Q

The HD is characterized by _______________ of all parts of the body

A

involuntary jerky movements

42
Q

_________________ movements of the extremities are typical.
death after an average course of about 15 years

A

writhing movements

43
Q

The most common skeletal dysplasia
and a major cause of dwarfism.
autosomal dominant disorder resulting from retarded cartilage growth.

A

ACHONDROPLASIA

44
Q

The most common skeletal dysplasia
and a major cause of___________.

A

dwarfism

45
Q

The most common skeletal dysplasia
and a major cause of dwarfism.
autosomal dominant disorder resulting from retarded

A

cartilage growth

46
Q

Defective gene of Achondroplasia

A

Fibroblast growth factor receptor 3 (FGFR3)

47
Q

inhibits bone growth

A

Fibroblast

48
Q

mutation results in a constitutively active receptor, thereby exaggerating this effect and suppressing growth.

A

Achondroplasia

49
Q

Shortened proximal extremities, a trunk of relatively normal length, and an enlarged head with bulging forehead and conspicuous depression of the root of the nose.

A

Achondroplasia

50
Q

is a “receptor disease” caused by loss-of-function mutations in the gene encoding the LDL receptor, which is involved in the transport and metabolism of cholesterol.

A

Familial hypercholesterolemia

51
Q

Familial hypercholesterolemia is a “receptor disease” caused by loss-of-function mutations in the gene encoding the _____________, which is involved in the transport and metabolism of cholesterol.

A

LDL receptor

52
Q

VLDL

A

ApoC, B-100, ApoE

53
Q

IDL

A

B-100, ApoE

54
Q

LDL

A

B-100

55
Q

FAMILIAL HYPERCHOLESTROLEMIA
SYMPTOMS - twofold to threefold elevation of plasma cholesterol

A

Heterozygotes

56
Q

fivefold elevation

A

Homozygous

57
Q

Cholesterol deposits on skin and tendon sheaths

A

Xanthoma

58
Q

Formation of atherosclerosis resulting in coronary artery disease

A

HYPERTENSION

59
Q

Defects in the red cell membrane that lead to the formation of spherocytes, nondeformable cells that are highly vulnerable to sequestration and destruction in the spleen.

A

HEREDITARY SPHEROCYTOSIS

60
Q

PATHOGENESIS OF HERIDEITARY SPHEROCYTOSIS

A

Caused by inherited defects
in the membrane skeleton, a network of proteins that stabilizes the lipid bilayer of the red cell.

61
Q

membrane skeleton a network of proteins that stabilizes the lipid bilayer of the red cell.

A

membrane skeleton

62
Q

major membrane skeleton protein.

A

Spectrin

63
Q

Mutations that cause hereditary spherocytosis most frequently
involve____,_________,________

A

ankyrin, band 3, or spectrin.

64
Q

On smears, spherocytes are

A

dark red and lack central pallor.

65
Q

The characteristic features of Hereditary Spherocytosis are

A

anemia, splenomegaly, and jaundice.

66
Q

improves the
anemia by removing the major site of red cell destruction.

A

Splenectomy

67
Q

Heme consists of a porphyrin ring coordinated with iron and is found mainly in hemoglobin.

A

PORPHYRIA

68
Q

Defects in the biosynthesis of heme result in a group of disorders known as

A

porphyrias

CYTOGENETICS (3 decks)

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