Genetics Final

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Pedigree Analysis

Back 1

The construction of family trees and their use to follow the transmission of genetic traits in families. It is the basic method of studying the inheritance of traits in humans.

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Organelles

Back 2

Cytoplasmic structure that have a specialized function

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Ribosomes

Back 3

Cytoplasmic particles that aid in the production of proteins

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Golgi Complex

Back 4

Membranous organelles composed of a series of flattened sacs. They sort, modify, and packaged proteins synthesized in the ER

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Lysosome

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Membrane enclosed organelles that contain digestive enzymes

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Mitochondria

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Membrane-bound organelles, present in the cytoplasm of all eukaryotic cells, that are the sites of energy production within the cells

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Sex chromosomes

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Chromosomes that determine sex of an organism; carry genes for other characteristics

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Autosomes

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All the other chromosomes in an organism

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Cytokinesis

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Process during cell division where the cytoplasm divides

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Centromere

Back 10

Two chromatids of chromosome are attached by this structure

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Gene

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Segment of DNA that codes for a protein or RNA molecule

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Haploid

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Cell containing only one set of chromosomes

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Chromatids

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The two exact copies of DNA that make up each chromosome

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Nucleotide

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The basic building block of DNA and RNA. Each nucleotide consists of a base, phosphate, and sugar

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Purine

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A class of double ring organic bases found in nucleic acids; A and G

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Pyrimidine

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Class of single ringed organic bases found in nucleic acids; T and C

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Codon

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Triplets of nucleotides in mRNA that encode the info for a specific amino acid in a protein

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Transcription

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Info in a specific region of DNA (a gene) is copied into mRNA

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Sex-Linked

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Gene is found on the X or Y chromosome

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Missense Mutation

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Single nucleotide change in DNA that leads to substituting one amino acid for another

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Sense Mutation

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Produce longer than normal proteins by changing a stop codon to a codon that codes for an amino acid

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Nonsense Mutation

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A codon that codes for an amino acid is substituted for one that codes for a stop codon

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Silent Mutation

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Some amino acids have more than one codon; has no effect

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Types of Mutations?

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Point Mutations (substitution)

Frameshift mutations (insertions and deletions)

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Deletion Mutation

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Nitrogen base is deleted

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Insertion Mutation

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Nitrogen base is added

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Karyotype

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Chromosomes are arranged in pairs according to size and centromere location

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Meiosis

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The process of cell division during which one cycle of chromosomal replication is followed by two successive cell divisions to produce 4 haploid cells

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Mitosis

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Form of cell division that produces two cells each of which has the same complement of chromosomes as the parent cells

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Cell cycle

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Interphase, prophase, metaphase, anaphase, telophase

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Allele

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One of the possible alternative forms of a gene usually distinguished from one other alleles by its phenotypic effects

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X-Linked

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The pattern of inheritance that results from genes located on the X chromosome

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Y-chromosome inheritance pattern

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The pattern of inheritance that results from genes located only on the Y chromosome

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Metacentric

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Describes a chromosome that has a centrally placed centromere

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Submetacentric

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Describes the chromosome whose centromere is placed closer to one end than the other

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Acrocentric

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Describe the chromosome whose centromere is place very close to, but not at, one end

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Arm q

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Long arm on chromosome

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Arm p

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Short arm on chromosome

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Region

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Broken down on chromosome

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Band

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Broken down from region on chromosome

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Polyploidy

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A chromosomal number that is a multiple of the number haploid chromosomal set

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Aneuploidy

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A chromosomal number that is not an exact multiple of the haploid set

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Monosomy

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a condition in which one member of a chromosomal pair is missing; having one less than the diploid number (2n-1)

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Trisomy

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A condition in which one chromosome is present in three copies, whereas all others are diploid; having one more than the diploid number (2n+1)

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Nondisjunction

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The failure of homologous chromosomes to separate properly during meiosis or mitosis

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Nucleotide

Back 46

The basic building block of DNA and RNA. Nucleotide consists of a base, a phosphate, and a sugar

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Pentose sugar

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A 5 carbon sugar molecule found in nucleic acid

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Phosphate group

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A compound contain phosphorus chemically bonded to four oxygen molecules

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DNA polymerase

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An enzyme that catalyzes the synthesis of DNA using a template DNA strand and nucleotides

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Messenger RNA

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A single-stranded complimentary copy of the nucleotide sequence in a gene

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transcription

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Transfer of genetic information from the base sequence of DNA to the base sequence of RNA, meditated by RNA synthesis

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Translation

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Conversion of information included in the nucleotide sequence of an mRNA molecule into the linear sequence of amino acids in protein

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Production of polypeptide

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From DNA to transcription into mRNA from mRNA to translation into a polypeptide

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Transfer RNA

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A small RNA molecule that contains a binding site for a specific type of amino acid and has a three base segment known as an anticodon that recognizes a specific base sequence in messenger RNA

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Ribosomal RNA

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RNA molecules that form part of the ribosome

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Anticodon

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A group of three nucleotides in a tRNA molecule that pairs with a complementary sequence (known as a codon) in a mRNA molecule

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Protein folding

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Once polypeptide fold into three dimensional shape, become chemically modified, and become functional, they are called proteins

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Radiation

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The process by which a magnetic energy travels through space or a medium such as air

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Ionizing radiation

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Radiation that produces ions during interaction with other matter, including molecules in cells

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Background radiation

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Radiation in the environment that contributes to radiation exposure

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Nucleotide substitutions

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Mutations that involve the placing of one or more nucleotides in the DNA molecule with other nucleotides

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Frameshift mutations

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mutational event in which a number of bases (other than multiples of 3) are added to or removed from DNA, causing a shift in the codon reading frame

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Autosomal doninant pattern of inheritance

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One mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder.

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Autosomal recessive pattern of inheritance

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Two mutated copies of the gene are present in each cell when a person has an autosomal recessive disorder.