Chapter 5 - Patterns Of Inheritance Flashcards

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0
Q

Gregor Mendel

A

The Father of Genetics
Austrian monk
First to make observations about inheritance patterns.

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1
Q

Genetics Definition

A

Is the study of inheritance

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2
Q

Why did Mendel used peas?

A
Many visible traits
Easily reproduced (sexually and asexually)
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3
Q

Mendel Conclusions (3)

A

Each plant had two “factors” that act as sets of instructions for each characteristics.
Each parent donated one of these factors.
One factor or trait may be dominant over the other if present.

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4
Q

True Breeding Definition

A

Organisms that exhibit the same traits, generation after generation

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5
Q

P Generation Definition

A

(P = Parental) in breeding, the organisms initially crossed and are typically true breeding.

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6
Q

F Generation Definition

A

(F= first filial/son) the offspring of a cross of the P generation.

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7
Q

Monohybrid Cross Definition

A

(one mix = monohybrid) a cross of two individuals that differ by one trait.

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8
Q

Allele Definition

A

One of two or more different forms of a gene.

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9
Q

Dominant Definition

A

(Capital letter) The allele that is expressed regardless of the identity of the other allele.

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10
Q

Recessive Definition

A

(Lower Case) The allele that is only expressed when two alleles are present, or a trait that is hidden when the dominant allele is present.

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11
Q

Genotype Definition

A

(Like a chemical equations) The specific combination of alleles that an organism has for a trait.

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12
Q

Phenotype Definition

A

(Like a word equations) The physical description of an organism’s trait.

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13
Q

Homozygous Dominant Definition

A

Two dominant alleles (XX) Capital

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14
Q

Homozygous Recessive Definition

A

The recessive alleles (xx) Lower case

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15
Q

Heterozygous Definition

A

One dominant and one recessive allele (Xx)

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16
Q

Example of a Parent Generation

A

Genotype: PP x pp
Phenotype: purple x white

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17
Q

Example of F 1 Generation

A

Genotype: Pp Pp Pp Pp
Phenotype: Purple Purple Purple Purple

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18
Q

Example of F2 Generation

A

Genotype: PP Pp Pp pp
Phenotype: Purple Purple Purple White

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19
Q

Genes and Heredity Point

A

Your biological traits are controlled by genes located on the chromosomes that are found on/ in every cell of your body.

20
Q

Garden Peas Replication

A

Self-fertilization and cross-fertilization

21
Q

Mendelian Genetics

A

Came up with terminology: genes, alleles, dominant, recessive
Created a system of symbiosis to show traits (Letters)
Crossed two hybrid plants with round seeds from first generation.

22
Q

Law of Segregation Definition

A

Separating of paired alleles during meiosis (formation of sex cells)

23
Q

Mendel’s Law of Heredity Summary (3)

A

Each parent contributes are allele during fertilization (if purebred plat self fertilizes, each offspring receives two copies of the same allele)
The dominant allele is always expressed when recessive allele is present.
Each pair of alleles segregates during formation of sex cells.

24
Q

Recap of Mendel

A

When organisms are crossbreed for a pair of contrasting traits, it shows only the dominant trait!

25
Q

Definition of Punnett Square

A

A grid used to illustrate all possible genotypes and phenotypes of offspring from genetic crosses

26
Q

Definition of Tess Cross

A

-Used when s genotype is unknown
-A cross between a parent of an unknown genotype with a homozygous recessive parent.
Eg. Needed to know whether individual is homo or heterozygous for tallness. (TT or tt)

27
Q

Definition of Dihybrid Crosses

A

The inheritance of two traits

A cross of two individuals that differ in two traits due to two different genes

28
Q

Example of Dihybrid Crosses

A
Crossing shape  and colour at the same time
Y_R_ 9:16
yyR_ 3:16
Y_rr 3:16
yyrr 1:16
29
Q

Definition of Law of independent assortment

A

The alleles for one gene segregate or assert independently of the alleles for the other genes during gamete formation.

30
Q

Definition of Pedigree

A

A flowchart that uses symbols to show the inheritance patterns of traits in a family over many generations (history of a trait between generation)

31
Q

Definition of Autosome

A

Chromosomes 1-22 in humans. Non-sex chromosomes

32
Q

Definition of Autosomal Dominant

A

The inheritance of a dominant phenotype whose gene is on an autosomal chromosome.

33
Q

Definition of Autosomal Recessive

A

The inheritance of a recessive phenotype whose gene is on an autosomal chromosome.

34
Q

Huntington disease

A

Autosomal dominant
Chromosome number 4
Neurological disease that results in a loss of muscle control and decline in mental ability.
Decreased life expectancy.

35
Q

Cystic fibrosis

A

Autosomal recessive
Chromosome number 7
Causes thick mucus to build in the lungs, making breathing difficult and leading to infection
Blocks the pancreas, stopping digestive enzymes from reaching the intestines
Decreased life expectancy

36
Q

Sickle cell anemia

A
Autosomal recessive
Chromosome 11 
Red blood cells are irregularly shaped
Caused by an abnormal hemoglobin protein
Decreased life expectancy
37
Q

Phenylketonuria (PKU)

A

Autosomal recessive
Chromosome 12
Prevents the breakdown of phenylalanine, leading to developmental delays in cognitive function.
Must be treated immediately to avoid symptom development

38
Q

Retinoblastoma

A

Autosomal dominant
Chromosome 13
tumours develop in the retina of young children
Fatal if not treated

39
Q

Marian syndrome

A

Autosomal dominant
Chromosome 15
Affects connective tissue, leading to weakness in the heart, blood vessels, and skeleton.
Causes very long limbs
Increased susceptibility to heart and blood vessel conditions.

40
Q

Tay-Sachs disease

A

Autosomal recessive
Chromosome 15
Progressive destruction of the nervous system caused by a lack of the enzyme hexosaminidase A, leading to the accumulation of lipids in the cells.
Fatal in early childhood

41
Q

Niemann-Pick disease

A
Autosomal recessive 
Chromosome 18 
Brain and nervous system impairment due to the accumulation of lipids in cells
Decreased life span
Type A fatal in early childhood
42
Q

Maple syrup urine disease

A

Autosomal recessive
Chromosome 19
Inability to break down three amino acids, leading to nerve degeneration
Fatal if not treated

43
Q

Adenosine deaminase deficiency causing severe combined immunodeficiency disease (ADA-SCID)

A

Autosomal recessive
Chromosome 20
Deviancy in the enzyme adenosine deaminase resulting in minimal immune response and susceptibility to all disease
Fatal if not treated with bone marrow transplant

44
Q

Dominant allele criteria (3)

A

The trait is most likely transmitted by a parent to at least 50 percent of its offspring.
Depending on the size of the families involved, the trait will appear every generation.
If the allele is present, it will expressed phenotypically; in other words, in the appearance of the organism.

45
Q

Recessive allele criteria (3)

A

Only homozygous recessive
The trait will occur in an offspring but may be absent in parents or other relatives.
Approximately 25 percent of the offspring will exhibit the condition of both parents are heterozygous for the trait.

46
Q

Gene counsellor definition

A

A health- care professional with specialized training in medical genetics and counselling.

47
Q

4 methods of genetic tests

A

Karyotype -chromosome structure and number
FISH(fluorescence in situ hybridization) - details of chromosomal abnormalities is based on visualizing, through fluorescence, a targeted region on a chromosome)
Gene testing- mutation(s) in the DNA sequence of a gene
Biochemical testing - abnormal enzymes and other proteins (often due to mutation of a gene that codes for the protein)

58
Q

Gene Therapy definition

A

A technique aimed at correcting the effects of a mutated gene that is associated with a genetic disorder by inserting the correct form of the gene into the genome of the patient.