Bioconcepts genetics

mutations in non-reproductive cells of the body that persist and are transferred during mitosis to daughter cells affecting only those daughter cells

alternative forms of a gene that may be present at a locus

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

a cell with too many or too few copies of each chromosome resulting in a non diploid complement

programmed cell death, a natural process that the body uses to dispose of old, damaged or unwanted cells

any of the 22 non sex chromosomes in the karyotype

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. A bioinformatics system consists of an internal database, links to external public databases, and software containing algorithms for access, analysis, integration, manipulation, and visualization of the data in a variety of ways.

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

a procedure that harvests embryonic cells from the placental tissue of a developing pregnancy in order to perform genetic testing

equal phenotypic expression by heterozygous genes at a particular locus

triplets of adjacent nucleotides that code for one of the 20 amino acids

the sub-discipline of bioinformatics that deals with analyzing nucleotide sequences in DNA

genetically related individuals who parent offspring together

the study of the chromosomal composition of cells

containing two complete sets of 23 pairs of chromosomes

the double nucleotide coil of desoxyribose polynucleotide that forms the genome

genes whose traits are always expressed if they are inherited

the structural portion of DNA consisting of genes that code for amino acid sequences that form proteins

abnormal proliferation of nucleotides flanking genes on the X chromosome that produce mental handicap and muscle weakness

the basic unit of heredity; the sequence of DNA that encodes all the information to make a protein

microarrays of genes

the trait that is exhibited by genes inherited at a particular locus

databases of the locations and functions of the genes of specific organisms that are published on the Internet

genes whose locus and phenotype are known

a disruption in the correct sequence of genetic base pairs that may be transferred to daughter cells during mitosis or meiosis

the haploid set of an organism's chromosomes including all of their genes

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

the specific gene or gene sequence that determines a specific trait or group of traits exhibited by a cell or organism

mutations in gametes that persist and are transferred during meiosis to zygotes therefore affecting all daughter cells

containing one of each pair of 23 chromosomes

the single set of genes that males acquire from their mother's X chromosome

having different alleles at the two chromosomal loci of a gene site

water soluble proteins that complex with and stabilize DNA

having the same allele at both chromosomal loci of a gene site

the fifteen year-long international collaborative research project that has determined the nucleotide sequence of the entire human genome

non-coding DNA that separates exons on the genome

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

the qualitative process of creating linkage maps

maps of the relative position of genes to one another based on how frequently genes or gene markers segregate together

the linear position of each gene on each chromosome

the cell division process that occurs in reproductive tissue producing haploid reproductive cells called gametes

two dimensional spatially-oriented sets of DNA, genes, gene fragments, or proteins from genes mounted on a solid substance

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

45 chromosome aneuploidy with a single chromosome of one pair

the complementary nucleotide sequence copied from genetic DNA that codes for the amino acid sequence of proteins

substances and energy sources that cause genetic mutations

failure of chromosomes to separate and move into different cells resulting in aneuploidy in daughter cells

DNA subunits consisting of a deoxyribose sugar, a phosphate group and either a purine or pyrimidine base group

short nucleotide sequences that are used in PCR and as complementary genetic probes to identify specific gene sequences

a chart that illustrates the phenotypes of families for traits of interest permitting analysis of the mode of genetic inheritance

the study of how genetic variations among populations affect drug response

the observed physical or functional condition of a cell or organism as a consequence of its genotype

more precise maps of the sequence of exons on DNA

the process by which minute quantities of DNA are copied and amplified ten thousand- to ten million-fold while preserving their original nucleotide sequence

the property of having multiple alternative genetic sequences at a particular position

any aneuploidy in which there are more than two copies of every chromosome in a cell

each trait is inherited by offspring from their parents independently of other traits

the traits of offspring do not mix and are inherited from both parents, each contributing an equal quantity of genetic material

gene sites that, when activated by the binding of regulator proteins, initiate transcription of specific mRNA sequences

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

the collection of all exons or protein coding genes in the genome of a cell

The study of genetically directed protein expression under defined conditions

genes whose traits are only expressed if the locus for that trait is homozygous for the recessive gene

genes that produce protein products that bind to another gene locus inhibiting or activating gene expression at that locus

enzymes that recognize specific sequences of nucleotides and cleave strands of DNA into fragments wherever those sequences occur

any genetic polymorphism flanked by potential sites of cleavage by restriction endonucleases that contains a target sequence of genetic material of interest in between

single nucleotide sequences of ribose nucleotide that mediate protein synthesis

genetic inheritance on sex (X or Y) chromosomes

an acquired mutation

one of a family of enzymes that amplify DNA when heated

92 chromosome aneuploidy with four chromosomes instead of a pair of each of the 23 chromosomes

the process of copying genes from DNA into complementary sequences of RNA called messenger or mRNA during protein synthesis

protein synthesis that occurs when tRNA, mRNA, and ribosomes interact to produce amino acid sequences

69 chromosome aneuploidy with three chromosomes instead of a pair of each of the 23 chromosomes

47 chromosome aneuploidy with three chromosomes instead of two of any one of the 23 chromosomal pairs

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