Genetics Flashcards
Gene
the basic unit of heredity. Composed of DNA and are located on chromosomes
Alleles
When a gene exists in more than one form, the alternate forms is called alleles.
An organism has two alleles for each trait. one from each parent
Genotype
an individuals genetic makeup
Phenotype
Physical manifestation of a individuals genetic make up
Mendelian Genetics
in 1860s Gregor Mendel developed the basic principles of genetics with the garden pea.
Created Law of Segregation, Law of Independent assortment
True breeding
which if self crossed produce progeny only with the parental phenotype
Law of segregation
two alleles segregate during meiosis, resulting in gametes that carry only one allele for any given trait.
Mendel’s Law of dominance
If two alleles in an organism are different only one will be fully expressed and the other will be silent. The expressed allele is dominant. The silent is recessive.
Homozygous
organisms that contain two copies of the same allele
Heterozygous
organisms that carry two different alleles. The dominant allele appears in the phenotype
Monohybrid Cross
only one trait is being studied in a mating.
P generation
Parental generation being mated will be homozygous for each allele
F generation
filial generation is the progeny being created from the P generation. each generation is numbered sequentially
Punnett square diagram
one way of predicting possible genotypes expected from a cross. indicates all the potential progeny genotypes and relative frequencies.
Test cross/ back cross
only with a recessive phenotype can genotype be predicted with 100% accuracy. Due to it must be homozygous. an organism with a dominant phenotype of unknown genotype (Ax) is crossed with a phenotypically recessive organism (aa). The progeny will dictate if the dominant phenotype is heterozygous or homozygous.
Dihybrid cross
the parents differ in two traits. as long as the genes are independently assorted during meiosis and on separate chromosomes.
Mendel’s Law of independent assortment
the pattern of traits being transmitted to offspring independently.
Mendelian F2 phenotype ratio of dihybrid self crossed F1
9:3:3:1
Incomplete dominance
when the phenotype of the heterozygote is an intermediate of the phenotypes of the homozygotes
Codominance
occurs when multiple alleles exist for a given gene and more than one of them are dominant. Each dominant allele is fully dominant when with a recessive but when two dominant alleles are present, the phenotype result of the expression of both dominant alleles simultaneously
Sex Determination
in sexually differentiated species , most chromosmes exist as pairs of homolouges called autosomes, but sex is determined by a pair of sex chromosomes
locus
the location on a chromosome where a gene is located
Epistasis
occurs when one gene affects the phenotypic expression of a second gene. For example pigmentation, one gene will determine if it will or will not be seen while another determines what color will be seen.
Pleiotropy
occurs when a single gene has more than one phenotypic expression.Example the pea plant that is round or wrinkled also determines what kind of absorbtion they have. Many disease- causing genes exhibit pleiotropy
Polygenic Inheritance
the interaction of many genes to shape a single pheonotype. Leads to continuous variation
Linked genes
genes that reside on the same chromosome and thus cannot segregate independently becuase they are physically connected. Genes that are linked are normally inhereted together.
Linkage map
a chromosome map created by using the percentages of the cross over frequency. The freateer the distance between two genes on a chormosome the more places the gene can break and more likely the two genes will cross over during synapsis.
sex linked genes
genes that reside on the X or Y chromosome. Majority are X linked but Y is possible. most of these genes are phenotypically expressed in males. due to they only have one X chromosome
X-inactivation
during embryonic development in female mammals one of the two X chromosomes in each cell does not uncoil into chromatin. so X inactivation occurs and one chromosome remains coiled as a dark compact body called a Barr body
Barr body
Barr bodies are mostly inactive X chromosomes- most the genes are not expressed nor do they interact with their respective alleles.
Nondisjunction
the failure of one or more chromosome pairs or chromatids of a single chromosome to properly seperate during meiosis or mitosis
Failure for two homologus chromosomes during anaphase I or II in meiosis is
non disjuction that leads to gametes with extra or missing chromosomes
Mosaicism
During mitosis the failure of two chromatids of a single chromosome (during anaphase) to seperate and segregate produces daughter cells with extra or missing chromosomes. Occurs during embryonic development where a fraction of the body cells are efffected
Polypliody
occurs if all of the chromosomes undergo meiotic non disjunction and produce gamets with twice the number of chromosomes. common in plants
Point mutations
occur when a single nucleotide in the DNA of a gene is incorrect. can be caused by substitution, insertion or deletion.
Substitution
nucleotide is substituted for the correct one
deletion
if a nucleotide base pair is omitted
insertion
if an extra base pair is inserted
Aneuploidy
a genome with extra or missing chromosomes. Often caused by nondisjunction. Most are aneuploid gametes are sterile but some survive. examples are down syndrome and turner syndrome
Down syndrome
Trisomy 21. occurs when an egg or sperm with an extra number of 21 chromosome fuses with a normal gamete. these individuals bear various abnormalities
Turner syndrom
results when there is a nondisjunction of sex chromosomes. Sperm will either have both XY or none (O) same for eggs (XX or O). These individuals are physically abnormal and sterile
Chromosomal abberations
caused when chromosome segments are changed such as duplications, inversions or translocations
Duplications
when a chromosome segment is repeated on the same chromosome
Inversions
occur when a chromosome segments are rearranged in reverse oreintation on the same chromosome
Translocations
when a segment of a chromosome is moved to another chromosome. Example is down syndrome occuring when segment of 21 to chromosome 14. has the same phenotypic effect of trisomy 21
Nucleotides
constists of three parts, nitrogen base, sugar and phosphate
DNA
deoxyribose sugar, Nitrogen bases are adenine, thymine, guanine and cytosine and has a double helix structure
RNA
ribose sugar, nitrogen bases are adenine uracil, guanine and cytosine
mRNA
provides the instructions for assembling amino acids into the polypeptide chain, Has a liner structure
tRNA
delivers amino acids to a ribosome for their addition into a growing peptide chain. shape is clover-leafed
rRNA
combines with proteins to form ribosomes. shape is globular
DNA replication
occurs during interphase of the cell cycle and involves seperating (unzipping) the DNA molecule into two strands, each of which serves as a template to assemble a new strand. The result is two identical strands
Semiconservative replication
when each of the double stranded molecules of DNA consists of a single strand of old DNA and a new complementary strand.