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CYTOGENETICS > CALM 4 > Flashcards

CALM 4 Flashcards

1
Q

basic units of heredity, which is the transmission of inherited traits.

A

genes

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2
Q

A gene is the long ____molecule of which that transmits information, in its sequence of four types of building blocks

A

deoxyribonucleic acid (DNA)

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3
Q

Was the first to probe the underlying rules of inheritance of specific traits.

A

Gregor Mendel

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4
Q

Mendel described units of inheritance that pass traits from generation to generation and called them _____” (which would be later on renamed to genes by English embryologist William Bateson).

A

elementen

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5
Q

Alternate forms of a gene are called___

A

alleles.

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6
Q

Each reproductive cell (or gamete) produced by a plant contains only ___copy of a gene for each trait.

A

one

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7
Q

Even though the pair of alleles that governed a trait remained together throughout the life of an individual plant, they became separated (or segregated) from one another during the formation of gametes.

A

This formed the basis of Mendel’s First Law: Law of Segregation.

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8
Q

The segregation of the pair of alleles for one trait had no effect on the segregation of alleles for another trait. A particular gamete could receive a paternal gene governing seed color and a maternal gene governing seed shape.

A

This formed the basis of Mendel’s Second Law: Law of Independent Assortment

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9
Q

Father of Genetics.

A

Gregor Mendel,

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10
Q

Classified based on the probability of a plant, animals or humans.
Most common traits that occurred in the generations.

A

dominant

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11
Q

Rare type or sometimes no appearance at all.

Appeared in a low ratio compared to the dominant.

A

recessive

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12
Q

One trait that masks another is said to be __- ; the masked trait is ___

A

dominant ;recessive.

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13
Q

one trait is followed and the parents are hybrids, this is called a

A

monohybrid cross.

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14
Q

Paired sets of genes separate as gametes form then combine anew when gametes join at fertilization.

A

MENDELIAN LAWS:

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15
Q

each gene was packaged in a separate gamete

A

LAW OF SEGREGATION

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16
Q

An individual with two identical alleles for a gene is ___for that gene.

A

homozygous

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17
Q

An individual with two different alleles is heterozygous – or what Mendel called ____

A

“non-true-breeding” or “hybrid”.

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18
Q

describes the organism’s alleles

A

genotype

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19
Q

describes the outward expression of an allele combination.

A

phenotype

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20
Q

most common expression of a particular allele combination in a population.

A

wild type phenotype

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21
Q

variant of a gene’s expression that arises when the gene undergoes a change, or mutation.

A

mutant phenotype

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22
Q

Illustrates how alleles combine in offspring.

The different types of gametes are listed along two sides of the square.

A

punnett square

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23
Q

Crossing an individual of unknown genotype with a homozygous recessive individual

A

test cross

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24
Q

Inheritance of single genes

A

Mendelian, or monofactorial, inheritance.

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25
Q

A second gene on chromosome 15 or ___the is responsible for controlling the expression of the

A

HERC2 gene ; OCA2 gene.

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26
Q

rules that explain the common patterns of single-gene transmission which makes it possible to calculate the probability that a particular couple will have a child who inherits a particular condition.

A

Modes of Inheritance

27
Q

Shows that a trait can appear in either sex because an autosome carries the gene.

A

AUTOSOMAL DOMINANT INHERITANCE

28
Q

___ traits do not skip generations.

A

autosomal dominant

29
Q

Males and Females transmit the trait with equal frequency.

A

autosomal dominant

30
Q

Is an example of an autosomal dominant condition, caused by a single dominant allele which means that heterozygous individuals will develop the disease.

A

Huntington’s disease

31
Q

said to be a rare and fatal inherited disease of the central nervous system (Figure 4.9) causing damage to brain cells, leading to a gradual loss of coordination, decline in mental ability and changes in personality

A

Huntington’s chorea

32
Q

Shows that a trait can appear in either sex.

A

AUTOSOMAL RECESSIVE INHERITANCE

33
Q

The trait can skip generations.

A

AUTOSOMAL RECESSIVE INHERITANCE

34
Q

follows the inheritance of 2 different traits, each from a gene with 2 different alleles.

A

Law of Segregation

35
Q

states that for two genes on different chromosomes, the inheritance of one does not influence the chance of inheriting the other.

A

LAW OF INDEPENDENT ASSORTMENT

36
Q

Display family relationships and depict which relatives have specific phenotypes and genotypes.

A

Pedigree Charts

37
Q

autosomal recessive inherited disorder.

A

albinism

38
Q

arise when families are small and the trait is not severe enough to impair fertility.

A

Inconclusive pedigrees

39
Q

A genotype (allele combination) that causes death is, by definition,

A

lethal.

40
Q

it causes death before the individual can reproduce, which prevents passage of genes to the next generation.

A

lethal allele

41
Q

causing neuron degeneration in the brain and spinal cord, is lethal by age 3 or 4.

A

Tay-Sachs

42
Q

may not be lethal until late middle age.

A

Huntington’s disease

43
Q

Early acting lethal alleles in humans cause

A

spontaneous abortion.

44
Q

or long trunk and short limbs is also a lethal genotype in humans.

A

Achondroplastic dwarfism

45
Q

A gene can exist in more than two allelic forms in a population because it can mutate in many ways wherein the sequence of hundreds of DNA bases that make up a gene can be altered in many ways.

A

MULTIPLE ALLELE COMBINATIONS

46
Q

too little or lack of an enzyme causes the a.a. phenylalanine to build up in brain cells resulting to hundreds of mutant alleles pair to cause 4 basic phenotypes

A

Phenylketonuria (PKU)

47
Q

wherein one genotype experiences frequent, severe respiratory infections, congested lungs, and poor weight gain while another genotype experiences frequent bronchitis and pneumonia.

A

Cystic Fibrosis

48
Q

where one allele is expressed, while the other isn’t.

A

Complete Dominance

49
Q

where the heterozygous phenotype is intermediate between that of either homozygote.

A

Incomplete Dominance

50
Q

where different alleles are both expressed in a heterozygote.

A

co-dominance

51
Q

determined by polysaccharides present on the surface of RBCs.

A

ABO Blood Group

52
Q

A phenotypic class does not survive to reproduce.

A

lethal allele

53
Q

Many variants or degrees of a phenotype occur.

A

multiple allele

54
Q

A heterozygote’s phenotype is intermediate between those of two homozygotes.

A

incomplete dominance

55
Q

A heterozygote’s phenotype is distinct from and not intermediate between those of the two homozygotes.

A

co dominance

56
Q

One gene masks or otherwise affects another’s phenotype.

A

epiptasis

57
Q

Some individuals with a particular genotype do not have the associated phenotype.

A

penetrance

58
Q

A genotype is associated with a phenotype of varying intensity.

A

expressivity

59
Q

The phenotype includes many symptoms, with different subsets in different individuals.

A

pleiotrophy

60
Q

An environmentally caused condition has symptoms and a recurrence pattern similar to those of a known inherited trait.

A

phenocopy

61
Q

Different genotypes are associated with the same phenotype.

A

Genetic Heterogeneity

62
Q

The ___mitochondrial genes encode tRNA, rRNA, or proteins involved in protein synthesis or energy reactions.

A

37

63
Q

depict linked genes. Researchers can examine a group of known linked DNA sequences (a haplotype) to follow the inheritance of certain chromosomes.

A

linkage maps

CYTOGENETICS (6 decks)

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