Genetics Flashcards
Gene
Segments of DNA on a chromosome
Chromatid
One of two identical copies of a chromosome
Sister chromatids
two identical chromosomes
Centromere
Connects sister chromatids (at center)
Telomere
ends of chromosome, important for stability
Genotype
An organism’s genetic makeup
Phenotype
The physical appearance of the genotype
Non-Mendelian Inheritence
Inheritance pattern that does not follow Mendelian genetics (Codominance, incomplete dominance)
Human somatic cells
- Diploid
- 200 different types
Germline cells
reproductive cells
Haploid cells
Cell with a single set of chromosomes
Diploid cells
Cell with two sets of chromosomes
Allele
A variant form of a given gene
Autosome
Chromosome common in both genders
i.e. one from each parent
Karyotype
- The entire set of a person’s chromosomes
- In a picture, shown ad single condensed, or as a duplicated chromosome
Lyonization
- aka X-inactivation
- When an X chromosome in females is inactivated — gene “turned off”
Mosaicism
Two or more types of cells with different genotypes in one individual (i.e. Down syndrome, Klinefelter syndrome, Turner syndrome) — more than one genotype from same fertilized egg
Embryonic stem cells
- Cells with the potential to grow into many types of specialized cells
- Pluripotent
Adult Stem Cells
-Can only generate cells types in accordance with the tissues they reside
Modes of Inheritance
1) Autosomal Dominant
2) Autosomal Recessive
3) X-Linked Recessive
4) Y-Linked Recessive
Autosomal Dominant
- 1 gene needed for expression
- Affected offspring has one affected parent
- Trait in every generation
- Each individual has a 50% chance of inheriting the trait
Autosomal Recessive
- 2 copies of gene need to influence phenotype
- 1 allele present = carrier
- Two carries reproduce — 25% of being unaffected, 25% being affected, 50% unaffected carrier
Mitochondrial DNA (mtDNA)
- Encodes a variety of proteins for OxPhos
- No introns present
- Maternal inheritance
- Mutation rate = 10x higher than nDNA
- Lack of repair mechanisms
Somatic cell mitosis (products)
Two genetically identical daughter cells
Meiosis
- Division of germ cell twice with one round of DNA replication for the purposes of sexual reproduction
- Each daughter cell is haploid (reduces chromosomes by half) and genetically dissimilar
- Males: sperm
- Females: one egg and three polar bodies
Homologous recombination
DNA crossover event between homologous chromosomes during meiosis, resulting in genetic variation in the daughter cells —- NEW COMBINATIONS OF GENES
Ways to create genetic diversity in Meiosis
1) Homologous recombination
2) Random homolog segregation
Errors of Meiosis
1) Polyploidy – cells contain extra set of chromosomes
2) Aneuploidy – cells contain and missing of additional individual chromosome (i.e trisomy 21)
Nondisjunction
Failure of sister chromatids to separate normally during division, resulting in uneven chromosome distribution amongst daughter cells