Chapter 12: Genetics and Evolution Flashcards
(81 cards)
Shorthand for nucleotide
nt
Shorthand for chromosome
Chr
Shorthand for mutation
Mutat
What are genes?
Genes are DNA sequences that code for heritable traits that can be passed from one generation to the next.
What is a chromosome?
A chromosome is a thread-like structure found inside the nucleus of a cell that carries long strands of DNA, containing the genetic information needed for an organism to function, essentially acting as the “blueprint” for an organism’s traits and development.
What are alternate forms of genes called?
Alternate forms of genes are called alleles.
What is a genotype?
A genotype is the genetic combination possessed by an individual.
What is a phenotype?
A phenotype is the observable manifestation of a given genotype.
What are homologous chromosomes? What is the exception of homologous in humans? Are homologous chromosomes identical?
Homologous chromosomes are two copies of each chromosome. The exception of homologous in humans are the sex chromosomes of genotypical males who have one X chromosome and one Y chromosome.
Remember. Homologous chromosomes are not identical to each other. They carry the same genes in the same order but contain different alleles.
What is the locus of a gene?
The locus of a gene is the location of a gene on a specific chromosome.
Explain dominant and recessive alleles.
Alleles are considered dominant if only one copy is necessary to express a given phenotype.
Alleles are considered recessive if two copies are needed to express a given phenotype.
What is a homozygous genotype? Heterozygous? Hemizygous?
A homozygous genotype is when both alleles are the same for a given gene. Simple example being RR (homozygous dominant) or rr (homozygous recessive).
Heterozygous is the alleles are different. Such as Rr.
Hemizygous are a situation in which only one allele is present for a given gene. Such as one X chromosome for genotypical males.
What is complete dominance regarding alleles? Codominance? Incomplete dominance?
Complete dominance is there is only one dominant and one recessive allele existing for a given gene.
Codominance is when more than one dominant ellese exist for a gene, for example blood: A and B are codominant in that both A and B antigens will be expressed if both dominant alleles are present on the gene.
Incomplete dominance occurs when a heterozygote expresses a phenotype that is intermediate between the two homozygous genotype. Example is certain kinds of flowers. RR is red, rr is white, Rr is pink. Memorize the F1 and F2 outcome of the following image:
What is penetrance and expressivity?
Penetrance is the proportion of a population with a given genotype who actually express the phenotype.
Expressivity is the different manifestation of the same genotype across the population.
Hypothetical mouse ear example:
List the varying degrees of penetrance.
Penetrance varies in a population from full penetrance to nonpenetrance:
Full penetrance: 100% of the individuals in a population express.
High penetrance: most express.
Reduced penetrance.
Low penetrance.
Nonpenetrance: no expression.
How does expressivity differ from penetrance?
Expressivity is the varying manifested phenotype for a given genotype. Penetrance is the percentage of the population that express a manifested phenotype for a given genotype.
What is the main takeaway from Mendel’s law of segregation?
The key takeaway from Mendel’s law of segregation is the separation of homologous chromosomes during anaphase I of meiosis segregate the chromosomes into different cells, making each gamete having only one allele for any given trait.
What is the takeaway from Mendel’s second law: independent assortment.
The takeaway from Mendel’s second law is that the inheritance is one gene does not affect the inheritance of another gene. Under genome replication during meiosis, during prophase I chromosomes will recombine allowing for inheritance that is independent of the others. Recall crossing over of homologous chromosomes effectively swapping genetic material and becoming unique among themselves.
Segregation and independent assortment of alleles allow for greater genetic diversity in the offspring.
Describe transcription and translation.
Transcription is the creation of mRNA from DNA. Translation is the creation of a protein from mRNA.
Recall transformation, transduction, and conjugation of bacteria.
Transformation is when a bacteria picks up genetic material, and thus genes, from its environment.
Transduction is when a bacteria inherits genetic information, and thus genes, from a vector such as a bacteriophage.
Conjugation is bacteria sex. lol. A sex factor must be present for bacteria to perform conjugation.
What are epigenetics? What does the word mean? What are some types and examples of epigenetics? Are there clinical impacts of epigenetics? What is imprinting?
Epigenetics is a general term for changes in DNA that do not involve an alteration to the nucleotide sequence. The prefix epi- means “over” or “above”, so genetic changes that come from sources other than changed nucleotide sequence.
Examples include covalent attachment of different chemical groups to nucleotides or histone proteins including methylation and acetylation. These modifications can increase or decrease the expression of specific genes.
Another example is X-inactivation in cells with two X chromosomes in which one of the X chromosomes is silenced via methylation. The inactive X is called a Barr body.
Clinical impacts include hypermethylation of oncogenes and tumor suppressor genes have been implicated in some forms of cancer.
Imprinting is an epigenetic process in which gene expression is determined by the contributing parent. Differentiated methylation can come from a parent.
What is imprinting? What is the book example of imprinting?
Imprinting is an epigenetics process in which gene expression is determined by the contributing parent.
Prader-Willi syndrome: development disorder caused by a deletion in chromosome 15. If the deletion of the region of the chromosome occurs on the paternal chromosome and the maternal copy is heavily methylated.
A totally different outcome happens when the maternal chromosome portion of chromosome 15 is missing and the paternal chromosome is heavily methylated: Angleman syndrome
What is a mutation? What are wild type alleles? What are mutant alleles? Mutations can happen in a number of ways, name some.
A mutation is a change in DNA sequence and it results in a mutant allele. Mutant alleles are those that have been changed via a mutation. Wild type alleles are those considered normal or natural and are ubiquitous in the study population.
Mutations can be caused by ionizing radiation and chemical exposures (mutagens). DNA polymerase can make occasional errors. Transposons can insert and remove themselves from the genome.
What is a mutagen?
A mutagen is a substance that can cause mutations.