Human Genetics Terms PDF

Term Description --------------------- ------------------------------------------------------------------------------------------------------------------------------------------- Autosomal Chromosomes that are not Sex chromosomes and are numbered in 1-22 in humans....

Term Description --------------------- ------------------------------------------------------------------------------------------------------------------------------------------- Autosomal Chromosomes that are not Sex chromosomes and are numbered in 1-22 in humans. Dominant The relationship between two versions of a gene. One gene masks the effect of the other version of the same gene chromosome. Recessive A genetic trait that occurs when both copies of a gene are abnormal X-Linked Genetic traits that are influenced by genes on the x chromosome Imprinting A process in which only one copy of the gene is expressed in an individual , depending on whether it was inherited from mother or father. Microdeletion A deletion of genetic material in chromosomes that are too small to be seen under a microscope Chromosomes A structure found inside a nucleus of a cell Chromatin Complex of dna and proteins found in the human cells Mendelian A pattern of how traits are passed down from parent offspring DNA A molecule that contains the genetic code for an organisms development, function, growth Nucleotides The basic building blocks of dna & rna Double helix Physical structure of dna Amino acid Building blocks of proteins Translation The process of converting information in dna into proteins Mutation A change in dna sequence of an organism, which can occur during cell devision Somatic The study of genetics mutations that occur in somatic cells Gonadal A complex process that involves the development of gonads from undifferentiated precursors into ovaries or testes Gamete Reproductive cells in humans , unique in that they carry half the number of chromosomes as other cells in the body Radiation The emission of energy as electromagnetic waves Genes The basic physical and functional unit of heredity RNA splicing The process of removing noncoding regions of genes from pre -mRNA and joining the coding regions to create messenger rna Mitosis Cell devision that occurs in cells -- two identical daughter cells are produced from a single cell Meiosis Cell devision that occurs in sexually reproducing organisms eg sex cells eggs ,sperm Allele A variants of a gene or dna sequence at a specific location on a chromosome Genotype An organisms genetic makeup Phenotype An observable trait or characteristic of an organism Adenine A chemical compound that is used to make one of the building blocks of dna and rna Guanine A chemical compound that is used to make one of the building blocks of dna and rna Cytosine A chemical compound that is used to make one of the building blocks of dna and rna Thymine A chemical compound that is used to make one of the building blocks of dna and rna Replication The process by which the genomes dna is copied in cells Deletion A type of mutation that involves the loss of one or more nucleotides from a segment of dna MRNA A single stranded molecule of rna that carries genetic information from dna to the cytoplasm of a cell where proteins are made Transcription The process by which a cell makes rna copy of a price of dna Congenital disorder Structural or functional anomalies that occur during intrauterine life Recombinate The joining together of dna molecules from two different species Insertion A type of mutation that involves that addition of one or more nucleotides into a segment of dna Gene sequencing A laboratory techie that determines the order of the four bases that make up dna