FHHS Genetics Eubanks STUDY GUIDE

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ianthomas1  on May 26, 2011

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FHHS Genetics Eubanks STUDY GUIDE

Mendels Laws
laws of dominance,segregation,and independent assortment
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Mendels Laws laws of dominance,segregation,and independent assortment
Mono hybrid Cross hybridization using a single trait with two alleles (as in Mendel's experiments with garden peas)
Dihybrid cross hybridization using two traits with two alleles each
Heterozygous having two different alleles for a trait
homozygous having two identical alleles for a trait
genotype the particular alleles at specified loci present in an organism
phenotype what an organism looks like as a consequence of its genotype
haploid (genetics) an organism or cell having only one complete set of chromosomes
diploid (genetics) an organism or cell having two sets of chromosomes or twice the haploid number
phenotypic ratio a ratio that shows the varied outcomes that results from a genetic cross and is based on physical appearance alone
genotypic ratio the ratio of the genotypes that appear in offspring
pedigree A diagram of a family tree showing the occurrence of heritable characters in parents and offspring over multiple generations.
co-dominance situation in which both alleles of a gene contribute to the phenotype of the organism
dominance An organism with a dominant allele for a particular form of a trait will always exhibit that form of the trait. (ex. Bb ---The big B would be dominant
incomplete dominance one allele is not completely dominant over the other allele
multiple alleles three or more forms of a gene that code for a single trait
sex-linked inheritance controlled by a gene on the X chromosome
pleiotropic a single gene determines more than one phenotype for and organism.
genetic heterogeneity A phenotype that can be caused by variants of any of several genes
huntington Disease hereditary disorder marked by degenerative changes in the cerebrum leading to abrupt involuntary movements and mental deterioration
cystic fibrosis the most common congenital disease, a human genetic disorder caused by a recessive allele for a chloride channel protein; characterized by an excessive secretion of mucus and consquent vulnerability to infection; fatal if untreated (4% whites are carriers - most common lethal genetic disease)
tay sachs disease A human genetic disease caused by a recessive allele for a dysfunctional enzyme, leading to accumulation of certain lipids in the brain. Seizures, blindness, and degeneration of motor and mental performance usually become manifest a few months after birth.
muscular dystrophy any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
mullerian female tubing system in gonad
wolfian ducts form the man's internal structures, while the "other" ducts degenerate
heritability the proportion of variation among individuals that we can attribute to genes
blood typingThe blood of one person is different from another's due to the presence of antigens on the surface of the erythrocytes. The major method of typing blood is the ABO system and includes types A, B, O, and AB. The other major method of typing blood is the Rh factor, consisting of the two types, Rh+ and Rh-.
SRY the gene on the Y chromosome whose product instructs the undifferentiated fetal gonads to develop into testes
twin studies a common method of investigating whether nature or nurture affects behavior
sex linked traits traits that are inherited with sex chromosomes
recessive traits traits that typically do not show in a person unless both genes for the trait are inherited
point mutation a mutation due to an intramolecular reorganization of a gene
missense mutation The most common type of mutation, a base-pair substitution in which the new codon makes sense in that it still codes for an amino acid.
nonsense mutation A mutation that changes an amino acid codon to one of the three stop codons, resulting in a shorter and usually nonfunctional protein.
frameshift mutation mutation that shifts the "reading" frame of the genetic message by inserting or deleting a nucleotide
deletion mutation a mutation in which one or more pairs of nucleotides are removed from a gene
insertion mutation a mutation in which one or more nucleotides are added to a gene
duplication mutation a mutation that involves duplication of a region of DNA on the same strand
expanding triplet repeat a three-base-pair sequence in a human gene that is unstable and can be repeated a few to hundreds of times. more repeats = less the activity of the gene involved. expanding triple repeats occur in some human diseases
karyotypes a picture of all the chromosomes in a cell arranged in pairs
turner syndrome Girl with underdeveloped sex organs, girl with only one X
Cri-Du-Chat deletion in chromosome 5
klienfelters This chromosomal abnormailty afflicts only males. This abnormality may go undetected throughout the males normal life span. Most generally, the males are infertile, exhibit female body shapes and experience difficulty in learning and reading. Some have language difficulties such as stuttering.
Hemophilia congenital tendency to uncontrolled bleeding
Marfan Disease Autosomal Dominant
Triplo - X * One in every 1,000 has extra X chromosome in her cells
* Symptoms- tall and menstrual cycle is irregular, almost never mentally retarded but less intelligent
* 4 chromosomes has learning disabilities that impair her use of language
down syndrome A condition of retardation and associated physical disorders caused by an extra chromosome in one's genetic makeup
Aneuploidy A chromosomal aberration in which one or more chromosomes are present in extra copies or are deficient in number.
homologous Chromosomes Chromosomes with matching information
Polyploidy A chromosomal alteration in which the organism possesses more than two complete chromosome sets.
Hardy- Weinberg Equilibrium theory of a stable, nonevolving population in which frequency of alleles do not change; only occurs in large, isolated populations with random mating, and no natural selection or mutations
PCR polymerase chain reaction- DNA is copied multiple times to produce many copies of the original molecules helpful when there's only a small DNA sample
Gene Pool combined genetic information of all the members of a particular population
Gene Flow exchange of genes between populations
Inbreeding mating within , the act of mating closely related individuals
founder effect change in allele frequencies as a result of the migration of a small subgroup of a population
genetic load Number of mutations in an organism
Population Bottleneck a decline in population size that causes the gene pool to become less diverse
Balanced Polymorphism the ability of natural selection to maintain diversity in a population
nonrandom mating mating between individuals of the same phenotype or by those who live nearby
migration the process of relocating to a new region
mitochondrial DNA A small amount of DNA that is located in the mitochondria of cells. Mitochondrial DNA is inherited only through the mother.
natural selction process by which individuals that are better suited to their environment survive and reproduce most successfully; also called survival of the fittest
Recombinant DNA genetically engineered DNA made by recombining fragments of DNA from different organisms
Restriction Enzymes enzyme that cuts DNA at a specific sequence of nucleotides
Transgenic Organisms term used to refer to an organism that contains genes from other organisms
Recombinant DNA molecules bacterial plasmids into which genes from other species have been inserted are called?
Plasmids The smalll, circular segments of DNA that are found in bacteria and that stay sparate from the bacterial chromosomes; used in genetic engineering.
Transgenic Animals DNA can be injected directly into the cells or host genes can be replaced (knocked out) with the donor gene. extra growth hormone gene creates cattle with more meat, chickens may be given genes to resist bacterial infections that poison food.
bacteriaphage virus that infects bacteria
Gene Targeting A producer in which a researcher chooses and 'knocks out' or inactivates, a single gene in an organism.
Amniocentesis A technique of prenatal diagnosis in which amniotic fluid, obtained by aspiration from a needle inserted into the uterus, is analyzed to detect certain genetic and congenital defects in the fetus.
somatic gene therapy Repairing a gene by inserting the normal gene into cells of the tissue in which the mutant gene is expressed
germline gene therapy permanent modification of a gene in reproductive cells; illegal
vectors An organism that transmits disease by conveying pathogens from one host to another
protein therapy Genetic engineering/recombinant DNA functions to help create more of desired ___, make ____, putting ___ or ___ into other organisms, produce ___ copies of a particular ___, or for ___ ____.
Ex vivo gene therapy cells removed from body, treated, then returned
in vivo gene therapy 1) remove cells from body 2) add genes to the cells 3) return cells to body
in situ gene therapy the functional gene and the vector are injected into a very localized and accessible body part (ex. a single melanoma)
Chimeraplasty eliminating conventional problems of bioengineered crops by inserting a chemical instruction to give it desired genetic traits
autosomal all the other genes in the body that are not sex-linked.
hardy-Weinberg equation helps calculate frequencies of alleles in a population; p is the dominant allele; q is the recessive allele, p²+2pq+q²=1, p+q=1

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