Advanced Genetics Lecture Review

These flashcards cover vocabulary related to Mendelian and Non-Mendelian genetics, genetic modification techniques, and pedigree analysis based on the Advanced Genetics lecture notes.

Gregor Mendel

An Austrian monk who developed the principles of inheritance by performing experiments on pea plants starting in 1857.

Law of Segregation

A principle stating that when gametes form, alleles are separated so that each gamete carries only one allele for each gene.

Law of Independent Assortment

The principle that the segregation of alleles for one gene occurs independently to that of any other gene, unless the genes are linked on the same chromosome.

Principle of Dominance

The rule that recessive alleles will be masked by dominant alleles in the phenotype of a heterozygote.

Chromosome Theory of Inheritance

Proposed by Sutton and Boveri in 1902, it correlates Mendel's conclusions about genes to the behavior of chromosomes during mitosis and meiosis.

Haploid

The state of sex cells (gametes) containing only one version of each factor or allele for each gene.

Homozygous

A condition where the maternal and paternal alleles for a specific gene are the same.

Heterozygous

A condition where the maternal and paternal alleles for a specific gene are different.

Hemizygous

A state in human males where they possess only one allele for each gene located on a sex chromosome (XY).

Genotype

The gene composition or allele combination for a specific trait.

Phenotype

The observable characteristics or physical expression of a specific trait, determined by both genotype and environmental influences.

Monohybrid Cross

A genetic calculation used to determine the allele combinations for potential offspring involving only one gene.

Incomplete Dominance

An inheritance pattern where neither allele is completely dominant, resulting in a heterozygous genotype that presents as an intermediate or blend phenotype.

Codominance

A situation where pairs of alleles are both expressed equally in the phenotype of a heterozygous individual, such as CBCW feathering in speckled chickens.

Isoantigens (I)

The letter used to represent the different antigenic forms (A, B, and O alleles) in human blood group genotypes.

Type O Blood

The blood phenotype characterized by the absence of A and B antigens on red blood cells and being the universal donor.

Type AB Blood

The blood phenotype characterized by having both A and B antigens, making it the universal recipient.

Sex Linkage

Refers to a gene controlling a characteristic being located on a sex chromosome, usually the X chromosome since it is longer (153 million bp) than the Y chromosome (50 million bp).

Rickets

An X-linked dominant disease characterized by Vitamin D resistance and bent limbs due to the body's inability to absorb calcium.

Fragile X Syndrome

An X-linked dominant condition causing mild to severe intellectual disability, often presenting with physical features like large ears and a long face.

Duchene muscular dystrophy (DMD)

A genetic disorder characterized by progressive muscle degeneration and weakness caused by an absence of the protein dystrophin.

Hypertrichosis

An example of a Y-linked trait that is passed only from father to son.

Lethal Alleles

Alleles that cause an organism to die only when present in a homozygous condition, such as the (AA) state in achondroplasia.

Epistasis

A condition in which one gene controls the expression of another gene, such as the gene for baldness superseding genes for hair color.

Pleiotropy

A phenomenon where a single gene affects multiple traits, exemplified by sickle cell anemia (mutation to the beta-globin gene).

X-inactivation

The process in females where one of the two X chromosomes is silenced and packaged as a Barr body to ensure equal protein production with males.

Mosaicism

The presence of two populations of cells with distinct genotypes within a single organism, such as in mosaic Down syndrome.

Pedigree

A chart representing the genetic history of a family over several generations, using squares for males and circles for females.

Somatic cell nuclear transfer (SCNT)

A process of artificially generating stem cells and cloning embryos by fusing a diploid nucleus from an adult donor with an enucleated egg cell.

Vector

A vehicle, such as a plasmid or virus, used to deliver genetic material to a target cell via horizontal gene transfer.

Electroporation

A method of plasmid introduction where an electric current is applied to create temporary holes in the cell membrane.

Transduction

The insertion of a viral vector into a cell, utilizing the virus's ability to integrate DNA into a host genome.

Golden Rice

A GMO modified with daffodil genes to contain more beta-carotene, which the body converts to Vitamin A.

Restriction Endonuclease

An enzyme that cleaves the sugar-phosphate backbone of DNA at specific recognition sites to generate blunt or sticky ends.

DNA Ligase

An enzyme that splices a gene and vector together by fusing their sugar-phosphate backbones with a covalent phosphodiester bond.

Transformation

The specific term for the process of introducing a recombinant construct into a prokaryotic host cell.