Humans Genetics Midterm – Flashcards
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| gene |
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| a sequence of DNA that instructs a cell to produce a particular gene |
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| Genomics |
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| the study of the functions and interactions of many genes, or comparing genomes |
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| DNA |
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| the genetic material; the biochemical that forms genes |
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| Central Dogma |
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WATSON AND CRICK the relationship between nucleic acids and proteins as a directional flow of information |
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| Chromosomes |
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| A structure in a cell's nucleus that carries genes. A chromosome is a continuous molecule of SNS and proteins wrapped around it |
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| karyotype |
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| a size order chromosome chart |
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| autosome |
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| a chromosome that does not have a gene that determines sex |
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| sex chromosome |
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| a chromosome containing genes that specify sex |
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| cell cycle |
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| a cycle of events describing a cell's preparation for division and division itself |
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| checkpoints |
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| sprindle assembly, apoptosis, dna damage GO |
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| apoptosis |
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| a form of cell death that is a normal part of growth and development |
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| gamete |
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| a sex cell |
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| oogenesis |
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| oocyte development |
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| polar body |
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| a product of female meiosis that contains litle cytoplasm and does not continue to develop into an oocyte |
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| spermatogensis |
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| sperm cell differentiation |
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| cytokinesis |
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| division of the cytoplasm and its parts |
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| somatic cells |
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| a non sex cell |
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| Law of independent assortment |
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| when traits were transmitted independently due to possible combinations |
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| law of segregation |
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| behavior of alleles of a single gene |
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| hybrid |
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| one trait variant crossed to plants with the alternate |
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| germline cells |
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| sex cells |
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| stem cells |
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| cells that give rise to other stem cell, as well as to cells that differentiate |
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| totipotent |
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| generated from stem cells and can be made into any type of cell |
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| pluripotent |
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| makes specific cells from stem cells |
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| multifactoril trait |
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| a trait or illness determined by several genes and the environment |
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| polygenic inheritance |
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| traits determined by more than one gene |
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| empiric risk |
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| probability that a trait will recur based upon its incidence in a population |
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| heritability |
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| an estimate of the proportion of phenotypic variation in a group due to genes |
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| correlation coefficient |
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| how closely relaTed two people are IN REGARDS TO THEIR GENES |
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| molecular evolution |
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| changes in protein and DNA sequences over time used to estimate how recently species diverged from a common ancestor |
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| Genetic Distance/Molecular Clock |
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| amount of DNA change and amount of evolutionary time separating two genomes. It can estimate time to last shared common ancestor. |
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| Discrete variation |
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| single gene traits or the qualitative |
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| continuous variation |
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| multifactorial traits or quantitative traits |
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| Mitochondrial Eve/chromosome Adam |
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Eve- if a particular sequence of mtDNA could have mutated to yield the same of a modern human then that ancestral sequence may represent a very early humanlike woman
adam- paternal lineages |
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| time since last common ancestor |
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80 to 100000 years ago came from africa 3 major lineages central europe asia islands and austrailia |
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| Neandertals |
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300000 to 30000 years ago started wiping out when first modern ancestor came about |
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| eugenics |
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| the control of individual reproductive choices to achieve a societal goal |
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| assumption |
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random mating abscence of all forces that can chance allele frequency ..genetic drift |
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| polymorphic |
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| many forms ....populations tend to be this and have different alleles |
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| monomorphic |
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| population is genetically uniform for a particular trait |
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| genetic drift |
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| when a small group separates from a larger population, or reproduce only amont themselves, allele frequencies may change as a result of chance sampling fromt he whole |
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| Population bottleneck |
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| large population to an extremely small number (wipe out of a population ice age, tsunami) |
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| founder effect |
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| when a small group leaves home to found new settlements |
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| balances polymorphism |
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| maintenance of a harmful recessive allele in a population because the heterozygote has a reproductive advantage |
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| heterozygote advantage |
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| a recessive condition remains particularly prevalent because the heterzygote enjoys some unrelated health advantage, such as being resistant to an infectious disease or able to survive an enviornmental threat |
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| hemizygous |
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| the sex that has half as many x-linked genes as the other a human male |
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| incomplete domiance |
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| the heterozygous phenotype is intermediate between that of either homozygote |
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| Co-dominance |
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| different alleles that are both expressed in a heterozygote |
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| lethal allele |
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allele that is deadly AA aa |
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| Multiple Alleles |
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| Gene can exist in more than two allelic forms in a population because it can mutate in many ways |
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| pleiotrophy |
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| a single gene disorder with several symptoms...different symptom subsets can occur in different individuals |
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| polygenes |
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| involves more than one gene |
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| epistasis |
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when one gene masks or otherwise affects the phenotype of another (bombay phenotype-blood type with the H gene which controls the placement of a molecule to which antigens A and B attach on red blood cell surfaces) |
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| incomplete penetrance |
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| polydactyly some get it and some dont ....soem dont express the phenotype and others do |
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| variable expressivity |
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severity or extent vary in intensity in different people polydacty is both |
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| twin studies |
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| compares monozygotic twins and fraternal twins and compares them both |
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| mitochondrial inheritance |
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| maternally |
