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PH Bio #3 Genetics
| Question | Answer |
|---|---|
| acquired mutation | mutations in non-reproductive cells of the body that persist and are transferred during mitosis to daughter cells affecting only those daughter cells |
| allele | alternative forms of a gene that may be present at a locus |
| amniocentesis | a procedure that harvests cells that have peeled off of the skin of a developing fetus and are floating in amniotic fluid in order to perform genetic testing |
| aneuploidy | a cell with too many or too few copies of each chromosome resulting in a non diploid complement |
| apoptosis | programmed cell death, a natural process that the body uses to dispose of old, damaged or unwanted cells |
| autosome | any of the 22 non sex chromosomes in the karyotype |
| bioinformatics | the collection, organization and analysis of large amounts of biological data, such as gene sequences and the proteins they produce, using networks of computers and databases. |
| carriers | individuals with a normal phenotype who carry a dominant normal and an abnormal recessive gene at a particular locus and could therefore potentially produce normal or abnormal offspring |
| chorionic villus biopsy | a procedure that harvests embryonic cells from the placental tissue of a developing pregnancy in order to perform genetic testing |
| codominance | equal phenotypic expression by heterozygous genes at a particular locus |
| codons | triplets of adjacent nucleotides that code for one of the 20 amino acids |
| computational biology | the sub-discipline of bioinformatics that deals with analyzing nucleotide sequences in DNA |
| consanguineous | genetically related individuals who parent offspring together |
| cytogenetics | the study of the chromosomal composition of cells |
| diploid | containing two complete sets of 23 pairs of chromosomes |
| DNA | the double nucleotide coil of desoxyribose polynucleotide that forms the genome |
| dominant genes | genes whose traits are always expressed if they are inherited |
| exons | the structural portion of DNA consisting of genes that code for amino acid sequences that form proteins |
| fragile x syndrome | abnormal proliferation of nucleotides flanking genes on the X chromosome that produce mental handicap and muscle weakness |
| gene | the basic unit of heredity; the sequence of DNA that encodes all the information to make a protein |
| gene chips | microarrays of genes |
| gene expression | the trait that is exhibited by genes inherited at a particular locus |
| gene libraries | databases of the locations and functions of the genes of specific organisms that are published on the Internet |
| gene markers | a disruption in the correct sequence of genetic base pairs that may be transferred to daughter cells during mitosis or meiosis |
| genome | the haploid set of an organism's chromosomes including all of their genes |
| genomics | the process of sequencing sets of genes and/or the entire genome of organisms using techniques of genetics and molecular biology to organize and apply the information |
| genotype | the specific gene or gene sequence that determines a specific trait or group of traits exhibited by a cell or organism |
| germ line mutation | mutations in gametes that persist and are transferred during meiosis to zygotes therefore affecting all daughter cells |
| haploid | containing one of each pair of 23 chromosomes |
| hemizygous | the single set of genes that males acquire from their mother's X chromosome |
| heterozygous | having different alleles at the two chromosomal loci of a gene site |
| histones | water soluble proteins that complex with and stabilize DNA |
| homozygous | having the same allele at both chromosomal loci of a gene site |
| human genome project | the fifteen year-long international collaborative research project that has determined the nucleotide sequence of the entire human genome |
| introns | non-coding DNA that separates exons on the genome |
| karyotype | the chromosomal complement of normal human cells consisting of 22 pairs of autosomes or non sex chromosomes and one pair of sex chromosomes, XX for females and XY for males, totaling 46 chromosomes |
| linkage analysis | the qualitative process of creating linkage maps |
| linkage maps | maps of the relative position of genes to one another based on how frequently genes or gene markers segregate together |
| locus | the linear position of each gene on each chromosome |
| meiosis | the cell division process that occurs in reproductive tissue producing haploid reproductive cells called gametes |
| microarrays | two dimensional spatially-oriented sets of DNA, genes, gene fragments, or proteins from genes mounted on a solid substance |
| mitosis | nuclear and chromosomal splitting during cell division that results in the formation of two daughter cells with essentially the same genetic complement as the parent cell |
| monosomy | 45 chromosome aneuploidy with a single chromosome of one pair |
| mRNA | the complementary nucleotide sequence copied from genetic DNA that codes for the amino acid sequence of proteins |
| mutagens | substances and energy sources that cause genetic mutations |
| nondisjunction | failure of chromosomes to separate and move into different cells resulting in aneuploidy in daughter cells |
| nucleotide | DNA subunits consisting of a deoxyribose sugar, a phosphate group and either a purine or pyrimidine base group |
| oligonucleotides | short nucleotide sequences that are used in PCR and as complementary genetic probes to identify specific gene sequences |
| pedigree | a chart that illustrates the phenotypes of families for traits of interest permitting analysis of the mode of genetic inheritance |
| pharmacogenomics | the study of how genetic variations among populations affect drug response |
| phenotype | the observed physical or functional condition of a cell or organism as a consequence of its genotype |
| physical map | more precise maps of the sequence of exons on DNA |
| polymerase chain reaction (PCR) | the process by which minute quantities of DNA are copied and amplified ten thousand- to ten million-fold while preserving their original nucleotide sequence |
| polymorphism | the property of having multiple alternative genetic sequences at a particular position |
| polyploidy | any aneuploidy in which there are more than two copies of every chromosome in a cell |
| principle of independent assortment | each trait is inherited by offspring from their parents independently of other traits |
| principle of segregation | the traits of offspring do not mix and are inherited from both parents, each contributing an equal quantity of genetic material |
| promoters | gene sites that, when activated by the binding of regulator proteins, initiate transcription of specific mRNA sequences |
| protein | chains of amino acids whose type and order are determined by the genetic code in the cellular DNA forming structural elements and regulators of cell growth and function |
| proteome | the collection of all exons or protein coding genes in the genome of a cell |
| proteomics | The study of genetically directed protein expression under defined conditions |
| recessive genes | genes whose traits are only expressed if the locus for that trait is homozygous for the recessive gene |
| regulator genes | genes that produce protein products that bind to another gene locus inhibiting or activating gene expression at that locus |
| restriction endonucleases | enzymes that recognize specific sequences of nucleotides and cleave strands of DNA into fragments wherever those sequences occur |
| restriction fragment length polymorphism (RFLP) | any genetic polymorphism flanked by potential sites of cleavage by restriction endonucleases that contains a target sequence of genetic material of interest in between |
| RNA | single nucleotide sequences of ribose nucleotide that mediate protein synthesis |
| sex linked | genetic inheritance on sex (X or Y) chromosomes |
| somatic mutation | an acquired mutation |
| taq polymerase | one of a family of enzymes that amplify DNA when heated |
| tetraploidy | 92 chromosome aneuploidy with four chromosomes instead of a pair of each of the 23 chromosomes |
| transcription | the process of copying genes from DNA into complementary sequences of RNA called messenger or mRNA during protein synthesis |
| translation | protein synthesis that occurs when tRNA, mRNA, and ribosomes interact to produce amino acid sequences |
| triploidy | 69 chromosome aneuploidy with three chromosomes instead of a pair of each of the 23 chromosomes |
| trisomy | 47 chromosome aneuploidy with three chromosomes instead of two of any one of the 23 chromosomal pairs |
| tRNA | single stranded RNA with a complementary codon on one end and a binding site for the corresponding amino acid on the other end that align amino acids during translation |
Created by:
gasiorr
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