Genetics Exam 1 Flashcards

(126 cards)

1
Q

Three Fundamental Areas of Genetics

A

Transmission, Molecular, and Population

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2
Q

Transmission Genetics

A

Study of how traits are passed down from generation to generation

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3
Q

Molecular Genetics

A

Study of structure, function, and regulation of genes at the molecular level

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4
Q

Population Genetics

A

Study of allele and genotype frequencies, how they change over time and the factors contributing to these changes

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5
Q

Gregor Mendel discovered….

A

The fundamental principles of heredity by breeding garden peas

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6
Q

Bateson introduced…

A

The term “Genetics” and study of inheritance and co-founded the journal of genetics in 1910

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7
Q

Walter Sutton and Theodor Boveri…

A

Hypothesized chromosomes as hereditary material

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8
Q

Thomas H. Morgan…

A

Demonstrated how chromosomes as hereditary material experimentally

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9
Q

Edward Tatum & George Beadle…

A

Demonstrated that genes encode enzymes that perform metabolic functions - the “one-gene-one-enzyme model

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10
Q

Alfred Hershey and Martha Chase…

A

Demonstrated DNA as a hereditary unit

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11
Q

James Watson and Francis Crick…

A

Determined the structure of DNA

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12
Q

Francis Crick…

A

Also introduced “central dogma” - flow of DNA to RNA

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13
Q

Francois Jacob and Jacques Moriod…

A

Found genes have regulatory elements that control gene expression

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14
Q

Marshall Nirenberg….

A

Determined how DNA nucleotides code for amino acids

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15
Q

Fred Sanger…

A

Developed methods to determine nucleotide sequences of DNA

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16
Q

Human Genome Project

A

International consortium published the first sequence of the human genome in 2001

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17
Q

Jennifer Doudna and Emmanuelle Charpenter…

A

Developed genome editing with the CRISPR-Cas9

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18
Q

Applications of Genetics

A

Medicine, plant and animal breeding systems, agriculture, forensics, conservation biology, origin of modern humans and evolution

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19
Q

Gene Therapy

A

Inserting normal genes into cells that have missing or defective genes that treat or cure diseases

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20
Q

Conservation Genetics

A

popular genetics theory to prevent the extinction of animal species

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21
Q

Model Organisms

A

Non-human species that is used regularly in experimental research to study particular biological phenomena with the expectation that the results will apply to other species

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22
Q

Key Characteristics of Model Organisms

A
  1. Small species that are easy and inexpensive to maintain
  2. Short generation times and experimental crosses
  3. Small genome
  4. Easy to breed in captivity
  5. Organisms that produce a large # of offspring
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23
Q

Examples of Model Organisms

A

Bacterial: e.Coli
Eukaryotic: Yeast cells
Fungal: Neurospora crassa
Plant: Arabidopsis Thalina
Animal Models: Flies, mice, monkeys, frogs, chickens etc.

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24
Q

Traits (or Characteristics)

A

Individual biological properties of an individual or species

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25
Phenotypes
Alternate types of traits
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Wild Type
Phenotype usually found in nature
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Mutant
Heritable variants that differ from the "Wild Type" - an "Abnormal" trait. They arise from wild types as a result of mutations
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7 Phenotype Pairs Studied by Mendel
Round or Wrinkled Seeds Yellow or Green Seeds Purple or White Petals Inflated or Pinched Pea Pods Green or Yellow Unripe Pods Axial or Terminal Flowers Long or Short Stems
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True-Breeding
"Pure Line" plants, those that produce offspring of the same variety when they self-pollinate
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Hybridization
"Cross-Pollination" plants, mating between two true-breeding varieties; wild-type crossed with a mutant
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P- Generation
"Parental" Generation; true-breeding generation
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F1 Generation
1st filal generation; the hybrid offspring
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F2 Generation
2nd filal generation; offspring from an F1 and F1 hybrid
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Mendel's Additional Observations
- One phenotype disappeared in the F1 generation - Missing phenotype reappears in F2 generation - 3:1 ration of parental phenotypes
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Dominant Trait
A trait fully expressed in crosses between two true-breeding types
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Recessive Trait
A trait that is not expressed in crosses between two true-breeding types
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Backcross
Mating between an F1 hybrid and one parental type - resulted in a 1:1 cross
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Zygote
Fertilized Egg
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Genotype
Combo of alleles underlying a phenotype
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Homozygote
An organism with 2 identical alleles for a gene
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Heterozygote
An organism with 2 different alleles for a gene (not true-breeding)
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Gene
Heredity factor necessary for production of a trait - for each trait, an organism inherits two copies of a gene, one from each parent
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Allele
Alternative variations of genes - the dominant allele determines an organism's appearance
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Mendel's Law of Segregation
2 alleles for a heritable characteristic separate during gamete formation and end up in equal # of gametes - at fertilization, gametes fuse at random, results in predictable phenotypic rations
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Somatic Cell Division
Division of cells in the body - products are exact copies of the parent cells
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Mitosis
Division of the nuclear material of somatic cells Interphase -> Prophase -> Metaphase -> Anaphase -> Telophase -> Daughter Cells
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Diploid Cells
They have two copies of each chromosome
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Sexual Cell Divsion
Division of specialized cells called melocytes, in the sex organs - Products are haploid
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Haploid Cells
Half the number of chromosomes as the parent cell - only one copy of each set of chromosomes
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Gametes
Reproductive cells of animals & some plants (eggs and sperms)
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Meiosis
Division of the nuclear material of sex cells
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Stages of Meiosis
Interphase -> Prophase -> Metaphase 1 -> Anaphase 1 -> Telophase 1 -> Prophase 2 -> Metaphase 2 -> Anaphase 2 -> Telophase 2 -> 4 Haploid daughter cells
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Interphase
Proceeds Meiosis cell growth DNA synthesis - DNA condenses into chromosomes Forms sister chromatids attached at the centromere
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Prophase 1
Chromosomes pair; crossing over occurs Exchange of genetic material between chromosomes Spindle microtubules form Centrioles move to opposite poles Nuclear membrane breaks down
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Metaphase 1
Pairs of homologous chromosomes lineup at metaphase plate Chromosomes lineup independently of how they were inherited (Mendel's Law of Assortment)
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Anaphase 1
Homologous chromosomes separate Pulled to opposite poles Sister chromatids remain attached at the centromere
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Telophase 1
Each half of the cell has a haploid set of duplicated chromosomes Each chromosome has two sister chromatids The nuclear membrane forms here Cytokinesis happens here
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Cytokinesis
Division of the cytoplasm into 2 daughter cells
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Prophase 2
Sister chromatids are still paired Spindle microtubules form Centrioles move to opposite poles Nuclear membrane breaks down
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Metaphase 2
Sister chromatids are arranged at the metaphase plate They are connected to the centrioles by microtubules
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Anaphase 2
Sister chromatids separate and move toward opposite poles
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Telophase 2 & Cytokinesis
Chromosomes arrive at the opposite poles Nuclei form Chromosomes begin descending into chromatin Cytokinesis separates the cytoplasm
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Final Products of Meiosis
Results in 4 haploid daughter cells Each daughter has a single set of chromosomes Each daughter cell is genetically distinct
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Chromosomal Theory of Inheritance
Genes are found at specific locations on chromosomes Proposed by Walter Sutton in 1903 and Theodor Boveri and demonstrated in 1910 by Thomas Morgan
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Mendel's Law of Segregation
The two alleles for a hertiable character separate during gamete formation and end up in different gametes
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Single-Gene Inheritance in Haploids
Daughter cells are identical to parental cell
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Binary Fission
Cell division by replication and the daughter cells are genetically identical to the parent cell - happens in prokaryotes
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Molecular Mechanism
"Purple" allele codes for an enzyme that functions in the synthesis of purple pigment, "white" allele does not code for pigment synthesis and as long as on functional copy of "purple" allele is present then purple pigment is produced
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Anatomy of a Gene
Prometer 5'-UTR Coding Region Start Codon Exon Active Site Intron Stop Codon 3'-UTR
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Prometer
Signals the transcription start point
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5'-UTR
Untranslated region not translated to proteins
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Coding Region
Contains genetic information that will be translated
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Start Codon
Initiates translation (AUG)
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Exon
Sequences within DNA that are translated into proteins (coding regions) the active site is here
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Active Site
Codes for the region of an enzyme where substrate molecules bind and undergo a chemical reaction
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Introns
Sequences within DNA that are not translated into proteins (non-coding regions)
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Stop Codon
Terminates translation (UAA, UAG, UGA)
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3'-UTR
Signals end of transcription and the site for RNA processing
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3 Kinds of Mutations
Null = Non-functional Leaky = Partially functional Silent = No change
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+
Used to denote wild-type in a Punnett square
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Alb
Mutant albino allele
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Haplosufficient
One gene copy has enough function to produce the wild type phenotype
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Haploinsufficient
One gene copy is not enough to function sufficiently to produce wild type
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Codominant
One gene copy has enough function to produce an intermediate phenotype but is insufficient for producing the wild type
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Testcross
Mate individual of unknown heterozygosity with a fully recessive individual
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Sex-Linked Genes
X,X = Female characteristics X,Y = Male characteristics
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Homogametic
Two copies of the same sex chromosome (X,X)
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Heterogametic
One copy of each sex chromosome (X,Y)
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Hemizygous
"Half-Zygous" - only one copy of X so it cannot be homo or heterozygous
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Pseudo autosomal Regions
Homologous regions on the X and Y chromosomes Facilitates pairing of X and Y during meiosis Crossing over can occur
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Sex Determination
XY system is not the only chromosomal system of sex determination Ex. Turtles sex is determined by the temperature during development in the egg
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Pedigree Analysis
Many human diseases are caused by mutations in single genes
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Pedigree
A family tree that describes the inheritance of a trait across generations Can be used to predict the probability that an offspring will have a given trait Infer single-gene inheritance
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Autosomal Recessive
Two normal parents may have an affected child, frequently show "skipped" generation, more frequent among children of incest
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Inheritance of Autosomal Dominant
Every affected individual has at least one affected parent; both males & females can be affected; does not skip generations
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Monohybrid
Heterozygous for a single gene under study
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Monohybrid Cross
Mating between two individuals that are heterozygous for a single gene
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Dihybrid
Double heterozygote; heterozygous for 2 genes under study (aka comparing round vs wrinkly and yellow vs green)
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Dihybrid Cross
Mating between 2 double heterozygotes
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The Product Rule
The probability of independent events occurring together is the product of their individual probabilites
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Meiotic Recombination
Meiotic process that generates a haploid product with new combinations of the alleles carried by the haploid genotypes that unite to form the meiocyte
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Recombinant
Gametic type (meiotic output) that differs from either parental type (meiotic input)
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Quantitative Characters
Traits that vary in a population along a continum
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Polygenic Trait
A trait influenced by multiple genes
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Polygenes
The interacting genes underlying hereditary continuous variation (they are on different chromosomes and show independent assortment)
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Mitochondria
Found in all Eukaryotic cells, are sites of cellular respiration, the metabolic process that uses oxygen to generate ATP
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Chloroplasts
Found in plants and algae, are the sites of photosynthesis, the process that converts solar energy to chemical energy
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Sites of mitochondrial DNA mutations implicated in certain human diseases
Mitochondrial diseases will be passed from mother to all her children and her daughter’s children. Diseases will continue to be inherited along the maternal lineage in future generations.
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Mitochondrial Replacement Therapy
Replaces mitochondria containing disease-causing mutations with “healthy” mitochondria.
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Pronuclear transfer
Repair is done after fertilization. In vitro fertilization of both recipient’s egg and donor’s egg (sperm from the same father) Fertilized nucleus removed from recipient’s egg and the donor’s egg Recipient’s nucleus inserted into enucleated donor’s egg containing healthy mitochondria After checking for mitochondrial mutations, blastocyst is implanted in recipient’s uterus
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Maternal spindle transfer
Repair is done before fertilization Unfertilized nucleus removed from recipient’s egg and donor’s egg Recipient’s unfertilized nucleus inserted into enucleated donor’s egg containing healthy mtDNA In vitro fertilization After checking for mitochondrial mutations, blastocyst is implanted in recipient’s uterus
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Polar body transfer
Repair is done before fertilization Unfertilized nucleus removed from donor’s egg Polar body extracted from recipient’s unfertilized egg Polar body inserted into enucleated donor’s egg containing healthy mtDNA In vitro fertilization After checking for mitochondrial mutations, blastocyst is implanted in recipient’s uterus
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Risks of Mitochondrial Replacement Therapy (MRT)
Procedures may cause damage that is not well understood. Maternal mitochondria will be carried over to the donor egg (minor risk: < 2% carried over) Eggs may mature abnormally Adverse "mito–nuclear" interactions (no data in support of this theoretical risk) Limited studies in large animal models
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Linked genes
Occur on the same chromosome. Linked alleles tend to be inherited together—they are physically joined. Results in a deviation from Independent Assortment
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Chiasmata
Are the sites of crossing over
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Barbara McClintock & Harriet Creighton...
1931—early evidence that crossing over involves breakage-and-rejoining of DNA
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Multiple crossovers
Crossovers can occur at multiple sites Multiple crossovers can only be detected when studying three or more linked genes Multiple crossovers can include two or more chromatids
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Gene Mapping by Recombinant Frequency
The farther apart two genes are, the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency
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Genetic Map
An ordered list of the genetic loci along a particular chromosome
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1 genetic map unit (m.u.)
The distance between genes for which 1% of gametes (products of meiosis) are recombinants.
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Recombinant Frequency (RF)
Frequency of observed recombinants 𝑅𝑒𝑐𝑜𝑚𝑏𝑖𝑛𝑎𝑛𝑡 𝑓𝑟𝑒𝑞𝑢𝑒𝑛𝑐𝑦= (𝑁𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑟𝑒𝑐𝑜𝑚𝑏𝑖𝑛𝑎𝑛𝑡𝑠)/(𝑇𝑜𝑡𝑎𝑙 𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑜𝑓𝑓𝑠𝑝𝑟𝑖𝑛𝑔) answer x 100 for m.u.
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Single nucleotide polymorphisms (SNPs)
Variation in a single base pair in a DNA sequence Allele 1: AGGCATTA Allele 2: AGGTATTA
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Microsatellites
Variable number of short sequence repeats (alleles vary in number of repetitive units) Allele 1: CTCTCTCT (4 repeats) Allele 2: CTCTCT-- (3 repeats) Allele 3: CTCT---- (2 repeats)
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Recombination-based map
Map the relative loci of genes based on recombination frequencies
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Physical maps
Map genes as segments arranged along the DNA molecule constituting a chromosome
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Chi-square (χ2) test
A statistical test used to determine the probability of obtaining observed proportions by chance Compares observed values with those expected under a given hypothesis (e.g., independent assortment) "χ" ^2=∑▒〖(𝑂_𝑖−𝐸_𝑖)〗^2/𝐸_𝑖