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Flashcards based on lecture notes covering Meiosis, Sexual Reproduction, Mendelian Genetics, and Gene Expression.
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What type of chromosomes are pairs 1-22 in humans?
Autosomes
What are the sex-determining chromosomes in humans?
Sex chromosomes (X and Y)
How many chromosomes do humans have in total?
46
What occurs during meiosis I?
Homologous pairs separate
What is ploidy a measure of?
Number of sets of chromosomes
What connects sister chromatids?
Centromere
What process reduces a diploid cell to a haploid cell?
Meiosis
What is the synaptonemal complex?
Where homologous chromosomes pair up and physically connect during prophase I
What is crossing over?
Exchange of genetic material by homologous chromosomes
What are recombinant chromosomes?
Chromosomes that carry gene combinations "mixed" from both parents
What are chiasmata?
Visible structures at cross over points
What is a tetrad?
Four chromatids held together by chiasmata
What is the diploid number in humans?
2n, 46
What is the haploid number in humans?
n, 23
During what phase are tetrads arranged at the cell equator?
Metaphase I
What contributes to genetic variation among gametes?
Independent Assortment, Segregation, and crossing over
What happens to homologous pairs during anaphase I?
Pulled apart by microtubules
How is the number of possible gamete combinations calculated?
2^n (n = # of chromosomes in a set)
What process occurs during prophase I of meiosis I?
Crossing over
During what phase do sister chromatids align at the metaphase plate in mitosis and meiosis II?
Metaphase II
What is the outcome of meiosis II?
Separation of sister chromatids
What does asexual reproduction produce?
Identical offspring (clones)
What is a major disadvantage of asexual reproduction?
Absolutely no variation
What does sexual reproduction involve?
Fusion of two gametes
What is the diploid-dominant life cycle?
Life cycle used by humans and most animals
Where are gametes produced?
Gonads (testes and ovaries)
What do testes produce?
Sperm
What do ovaries produce?
Eggs
What is a zygote?
Single-celled entity formed when a sperm cell fertilizes an egg cell
What are the two main processes responsible for genetic variation?
Meiosis and fertilization
How many sperm are produced per mL on average?
250,000,000
What type of cells are genetically identical and have the same number of chromosomes as the original cell?
Mitosis
What type of cells are non-genetically identical and have half the original number of chromosomes?
Meiosis
What are spermatogonia?
Diploid cells within the testes that become primary spermatocytes
What do primary spermatocytes undergo to form secondary spermatocytes?
Meiosis I
What do secondary spermatocytes undergo to form spermatids?
Meiosis II
What cells differentiate into spermatozoa?
Spermatids
What are oogonia?
2n cell in the outer cortex of ovary that becomes a primary oocyte
What does the primary oocyte undergo to produce a secondary oocyte and a polar body?
Meiosis I
What does the secondary oocyte undergo to form an ootid and polar body?
Meiosis II
What does the ootid differentiate into?
Ovum
Who discovered the basic principles of heredity?
Gregor Mendel
What plant did Mendel use for his experiments?
Pea plants
What two fundamental laws of genetics did Mendel identify?
Independent assortment and segregation
What does true-breeding mean?
Organisms that always pass down a specific phenotypic trait
What is hybridization?
Crossing two different true-breeding plants
What is Mendel's 1st Law?
The Law of Segregation
The Law of Segregation separates what?
Two alleles for a heritable characteristic
What is a character?
Heritable feature (flower color)
What is a trait?
Variation of a character (white/purple color)
What is a locus?
A specific location on a chromosome where a gene is located
What is the genetic makeup of an organism?
Genotype
What is the physical appearance of an organism?
Phenotype
What is Mendel's 2nd Law?
Independent Assortment
What does Mendel's 2nd Law state?
Alleles of unlinked genes assort independently
What is a dihybrid cross?
Cross involving two traits of interest
What is the phenotypic ratio of F2 generation in a dihybrid cross?
9:3:3:1
What is the multiplication rule?
The probability that two or more independent events will occur together
What is the addition rule?
The probability that any one of two mutually exclusive events will occur
What is complete dominance?
The phenotypes of the heterozygous and dominant homozygote are identical
What is codominance?
Two dominant alleles affect the phenotype in separate, but distinguishable, ways
What is incomplete dominance?
The phenotypes of F1 hybrids are somewhere between the phenotypes of the two parental varieties
What are lethal alleles?
Non-functional alleles that can kill the individual inheriting it
What is pleiotropy?
When a gene has multiple phenotypic effects
What are polygenic traits?
Traits determined by two or more genes
What is epistasis?
A gene at one locus alters the phenotypic expression of a gene at another locus
What does quantitative variation indicate?
Polygenic inheritance
What are multifactorial characteristics?
Phenotypes influenced by both genetics and environment
What is norm of reaction?
The phenotypic range of a particular genotype that is influenced by the environment
What does the Chromosome Theory of Inheritance state?
Mendelian genes have specific loci on chromosomes
Who provided evidence that chromosomes are the location of Mendel's heritable factors?
Thomas Hunt Morgan
What are wild type phenotypes?
"Normal" common phenotypes in the fly populations
Why is Morgan's research important?
It was the first solid evidence indicating that a specific gene is associated with a specific chromosome
Who observed that proper sea urchin embryonic development does not occur unless chromosomes are present?
Theodor Boveri
What is genetic linkage?
First demonstration that genes were located on chromosomes – T.H. Morgan’s fruit fly work
What do linked genes tend to do?
Be inherited together
What violates the law of independent assortment?
Genetic Linkage
What is the mechanism that segregates genes on the same chromosome?
Cross over between homologous chromosomes
What is the inheritance pattern of unlinked genes?
50% parental type and 50% recombinant offspring
What is the inheritance pattern of linked genes when no crossover occurs?
No recombinant offspring, all are parental type
What is recombination frequency?
The frequency with which a single chromosomal crossover will take place between two genes during meiosis
What is a linkage map?
A diagram of relative gene locations
What is a centimorgan?
Unit equal to one genetic map unit (gmu)
Which chromosome is shorter, 21 or 22?
Chromosome 21
What is nondisjunction?
When a cell has an abnormal chromosome number
What is aneuploidy?
Offspring have an abnormal # of a particular chromosome
What is polyploidy?
When there are more than 2 COMPLETE sets of chromosome in an organism
What is XIST?
X-inactive specific transcript
Why do male cats never exhibit a tortoise shell coat color?
Affects only female
Which syndrome is caused by Chromosome 21 having three chromosomes instead of two?
Trisomy 21 (Down Syndrome)
Nondisjunction in female XX affects which sex?
Affects only female
What is a human genetic disorder resulting from a chromosomal recombination mutation that causes a deletion of part of chromosome 5?
Cri-du-chat syndrome
What is a genetic mutation?
Any change in a DNA sequence
What is a point mutation?
The change of a single nucleotide in the template DNA
What change in a nucleotide results in a change to the amino acid?
Missense (Nonsynonymous) Substitution
What type of mutation causes the encoding of a premature stop codon?
Nonsense Substitutions
What are additions or losses of nucleotide pairs in a gene called?
Insertions or Deletions (Indels)
What do genes must be to dictate whether a cell is a muscle, liver, or nerve cell?
Regulated
What is cell differentiation?
A process of specialization in form and function that cells undergo
What are operons?
Clusters of genes that are transcribed together