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| an alternate form of a gene; a gene variant |
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| a chromosome that does not include a gene that determines sex |
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| a structure, consisting of DNA and protein, that carries the genes |
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| an allele that aexerts an effect when present in just one copy |
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| a sequence of dna that has a known function, such as encoding protein or controlling gene expression |
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| all of the genes in a population |
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| a complete set of genetic instructions in a cell including dna that encodes protein as well as other dna |
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| the allele combination in an individual |
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| the size-order display of chromosomes |
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| a trait completely determined by a single gene |
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| a trait dtermined by one or more genes and by the enviornment; also called a complex trait |
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| a change in a gene taht affects the individual's health apperance or biochemistry |
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| a diagram used to follow inheritance of a trait in a family |
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| the observable expression of an allele combination |
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| a site in a genome that varies in 1 percent or more of a popluation |
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| an allele that exerts an effect only when present in two copies |
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| the molecule that enables a cell to synthesize proteins using hte info in DNA sequences |
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| a chromosome that carries genes whose presence or absence determines sex |
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| millions of single base sites that differ among people |
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Membrane network; rough ER has ribosomes, smooth ER does not
site of protein synthesis and folding; lipid synthesis |
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stacks of membrane-enclosed sacs
site where sugars are made and linked into starches or joined to lipids or proteins; proteins finish folding; secretions stored |
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sac containing digestive enzymes
degrades debris; recycles cell contents |
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two membranes; inner membrane enzyme-studded
releases energy from nutrients, participates in cell death |
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porous sac containing DNA
seperates dna from rest of cell |
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sac containing enzymes
breaks down and detoxifies various molecules |
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two associated globular subunits of rna and protein
scaffold and catalyst for protein synthesis |
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membrane-bounded sac
temporarily stores or transports substances |
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| Everything but the nucleus, organelles and plasma membrane classified as cytoplasm |
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| all cells cept egg and sperm |
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not dividing stage
G1 and G2 and S phase
G1: cell resumes synthesis of proteins, lipids and carbohydrates to build extra plasma membrane
S phase: replicates entire genome
G2: more proteins synthesized
Order: Mitosis, G1, S, G2 |
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first stage of mitosis
dna coils tightly
microtubules form
membrane breaks down
nucleolus disappears |
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second phase
chromosomes attatch at spindles |
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3rd phase
plasma membrane indents
pulll chromosomes to side |
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spindle falls apart
everything reforms |
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organelles and macromolecules distrubuted
cells seperate |
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| Checkpoints in cell division |
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Definition
G2: apoptosis checkpoint
Mitosis: spindle assembly checkpoint
S: Dna damage checkpoint |
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| molecules on the plasma membrane assess, transmit, and amplify incoming messages to the cells' interior |
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| precise sequence of interatctions among the proteins that connect cells |
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12-24 hours following ovulation
oocyte fertilized; zygote has 23 pairs of chroomosomes and is genetically distcint |
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30 hours to third day
mitosis increases cell number |
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third to fourth day
solid ball of cells |
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5th day through second week
hollowed ball forms trophoblast (outside) and inncer cell mass, which implants and flattens to form embryonic disc |
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end of second week
primary germ layers form |
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| paired structures where the sperm and oocytes are manufactured |
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| chromosome pairs, same genes in the same order but may carry different alleles of the same gene |
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| meiosis 1, reduces the number of replicated chromosomes from 46 to 23 |
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meosis II, produces four cells from two cells formed in the first division by splitting the replicated chromosomes
two divisions
4 daughter cells
dfaughter cell different
haploid
occurs in germline cells
new gene combinations |
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| random alignment of chromosomes |
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| formation of sperm cells, begins in diploid stem cells called spermatogonium. |
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meiosis in females, begins with diploid cell (oogonium)
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| prental human first eight weeks |
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| Outer layer (nearest the amniotic cavity) |
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| inner layer closeser to the blastocyst cavity |
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forms in between ectoderm and endoderm
all three layers created gastrula |
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| chemicals or other agents that cause birth defects |
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| most common expression of a particular allele combination in a pouliation |
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| marriage between relatives |
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| can appear in either sex because an autoosome carries the gene. Do not skip generations (if child has it, one parents must have it). If one generatoin doesn't have it, transmission stops. |
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can appear in either sex, need two copies of the gene to be affected
1:2:1 genotypic ratio |
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| a phenotypic calss does not survive to reproduce |
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| many variants or degrees of a phenotype occur (cystic fibrorsis) |
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| a heterozygote phenotype is intermediate between those of two homozygotes |
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| one genes masks or otherwise affects another's phenotype |
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| some individuals with a particular genotype do not have the associated phenotype |
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| a genotype is associated with a phenotype of varying intensity |
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| phenotype includes many symtpoms with different subsets in different individuals |
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| an enviornemntally caused condition has symptoms and a recurrence pattern smilar to those of a known inherited trait |
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| different genotypes are associated with the same phenotype |
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transmission of genes on the same chromosomes
do not assort independently and do not produce mendelian ratios |
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| mutation that is in some mitochondrial chromosomes but not others. After many divisions, tend to be all wild type or all mutant type for a particular gene |
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| mixing of maternal and paternal alleles on a single chromosome |
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| controls the expression of other genes, and is encoded by the SRY gene |
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| sex with two different sex chromosomes |
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| sex with two of the same sex chromosomes |
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| human male considered hemizygous for x linked traits because only has one X |
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Definition
always expressed in males
expressed in a female homozygote but every rarely in herotozygote
passed from heterozygote or homozygote mother to affected son
affected female has an affected father and a mother who is affected or a heteroygote |
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Definition
expressed in female in one copy
much more severe effects in males
high rates of miscarriage due to early lethality in males
passed from male to all daughters but to no sons |
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| coefficent of relatedness |
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Definition
| porportion of genes that two people related in a certain way share |
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