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Chapter 14

Human Genome

AB
Diploid Number - 2nThe full set of chromosomes of an organism; we have 46 chromosomes. AHR 2n =46
Monoploid or Haploid Number - nThis is half the full set; our gametes contain 1/2 the amount. AHR n= 23
KaryotypePicture of chromosomes arranged in pairs
AutosomesChromosome that is NOT as sex chromosome
Sex ChromosomeThe last pair of chromosomes on a karyotype; dictate the sex of the individual
AntigenTHis is a protein found on the surface of RBC - gives the blood type;Protein substance; can trigger an immune response; gives us the type of blood an individual has; found on the surface of RBC
AntibodyPlasma always contains the opporsite anitbody to the antigen on surface of RBC;Protein; found in plasma. It is the opposite to the blood antigen
AgglutinateTo clump
RBCRed Blood Corpuscle (NOT a cell as it does not have a nucleus)
ErythrocyteAnother term for a RBC
PedigreeShows family relationships
AchrondoplasiaDwarfism
Sex Linked DiseasesThese are diseases and/or traits ONLY CARRIED on the sex chromosomes; the last pair of chromosome; women can carry it as well as have it. Men can either have it or NOT. They cannot carry it as they do not have a second X chromosomes.
HemophiliaBleeders' Disease
Color BlindnessThis is a sex linked trait
Homozygous A type bloodAA
Heterozygous A type bloodAo
Homozygous B type bloodBB
Heterozygous B type bloodBo
Heterozygous AB type bloodAB
Homozygous O type bloodoo
ALSCommonly called Lou Gherig Disease; carried on number 21 chromosome
IntronParts of DNA that does NOT code for proteins
ExonsParts of DNA that do code for proteins
AlleleForm of a trait; Tt heterozygous; TT - homozygous
GenotypeGenetic make up...two letters---trait seen and trait carrier
PhenotypePysical characteristics; what we see; the first letter---Tt - I see Tall but you carry the message for short
ABO groupThis is what we call the major blood types: A, B, AB and O
Purpose of Y chromosome for the maleCarries the testis-determining factor
Rh factorAnother type antigen covering the RBC
Rh positiveIf you have this protein, you are Rh+
Rh NegativeIf you do not have this marker, you are Rh-
GenomeReading of a gene;The complete genetic sequence of one set of chromosomes
Restriction EnzymeUsed to cut DNA into sections for study
Gel ElectrophoresisUsed to separtate DNA fragments by size
Gene TherapyAn absent or faulty gene is replaced by a normal, working gene
PromotersBinding Sites for RNA polymerase
Restriction EnzymesCut DNA into sections
Purpose of a virus in gene therapyThe virus, not the plasmid, carries the DNA into the nucleus
Barr BodiesIt is the inactive X chromosome in a female cell; this produces Calico (tri coloreThe condensed, inactive x-chromosome found in the nuclei of somatic cells of most female mammals. It is also called sex chromatin. Females have only one Barr Body.; males usually have none
X incactivationThis is also called Lyonization (named after Mary Lyons). This is a process by which one of the two copies of the X chromosomes, present in female mammals, is inactivated.
Mary LyonsShowed X Inactivation; Barr Bodies are present on the X that is OFF



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