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Chapter 2: Human Genetics
The Human Species: An Introduction to Biological Anthropology, John H. Relethford
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Anthropology
Undergraduate 1
10/03/2012

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Term
Molecular Genetics
Definition
The branch of genetics concerned with the structure and function of genes and DNA sequences at the molecular level.
Term
Mendelian Genetics
Definition
The branch of genetics concerned with patterns and processes of inheritance, named after Gregor Mendel, the first scientist to work out these principles.
Term
Population Genetics
Definition
The branch of genetics concerned with the changes in the frequency of genes and DNA sequences in populations over time.
Term
Microevolution
Definition
Short-term evolutionary change.
Term
Macroevolution
Definition
Long-term evolutionary change.
Term

DNA

(deoxyribonucleic acid)

Definition
The molecule that provides the genetic code for biological structures and the means to translate this code.
Term
Base
Definition
Chemical units that make up part of the DNA molecule and specify genetic instructions. (adenine, thymine, guanine and cytosine)
Term
RNA
Definition
The molecule that functions to carry out the instructions for protein synthesis specified by the DNA molecule.
Term
Messenger RNA
Definition
The form of RNA that transports the genetic instructions from the DNA molecule to the site of protein synthesis.
Term
Transfer RNA
Definition
A free-floating molecule that is attracted to a strand of messenger RNA, resulting in the synthesis of a protein chain.
Term
Nuclear DNA
Definition
The DNA that is contained in the sucleus of the cell.
Term
Chromosome
Definition
A long strand of DNA sequences.
Term
Gene
Definition
A DNA sequence that codes for a functional polypeptide or RNA product.
Term
Hemoglobin
Definition
The molecule in blood cells that transports oxygen.
Term
Exon
Definition
A section of DNA that codes for the amino acids that make up proteins. It is contrasted with an intron.
Term
Intron
Definition
A section of DNA that does not code for the amino acids that make up proteins. It is contrasted wtih an exon.
Term
Regulatory Gene
Definition
A gene that acts as a genetic switch to turn protein-coding genes on or off. 
Term
Homeobox Genes
Definition
A group of regulatory genes that encode a sequence of 60 amino acids regulating embryonic development. 
Term
Mitosis
Definition
The process of replication of chromosomes in body cells.
Term
Meiosis
Definition
The creation of sex cells by replication of chromosomes followed by cell division.
Term
Genome
Definition
The total DNA sequence of an organism.
Term
Locus
Definition
The specific location of a gene or DNA sequence on a chromosome.
Term
Allele
Definition
The alternative form of a gene or DNA sequence that occurs at a given locus. Some loci have only one allele, some have two, and some may have many alternative forms. Alleles occur in pairs, one on each chromosome.
Term
Mendel's Law of Segregation
Definition
States that sex cells contain one of each pair of alleles.
Term
Genotype
Definition
The genetic endowment of an individual from the two alleles present at a given locus.
Term
Homozygous
Definition
When both alleles at a given locus are identical.
Term
Heterozygous
Definition
When the two alleles at a given locus are different.
Term
Phenotype
Definition
The observable appearance of a given genotype in the organism.
Term
Dominant Allele
Definition
An allele that masks the effect of the other allele (which is recessive) in a heterozygous genotype.
Term
Recessive Allele
Definition
An allele whose effect is masked by the other allele (which is dominant) in a heterozygous genotype.
Term
Codominant
Definition
When both alleles affect the phenotype of a heterozygous genotype, and neither is dominant over the other.
Term
Mendel's Law of Independent Assortment
Definition
States that the segregation of any pair of chromosomes does not affect the probability of segregation for other pairs of chromosomes.
Term
Linkage
Definition
When alleles on the same chromosome are inherited together.
Term
Crossing Over
Definition
The exchange of DNA between chromosomes during meiosis.
Term
Recombination
Definition
The production of new combinations of DNA sequences caused by exchanges of DNA during meiosis.
Term
Mitochondrial DNA
Definition
A small amount of DNA that is located in the mitochondria of cells. Mitochondrial DNA is inherited only through the mother.
Term
Polygenic
Definition
A complex genetic trait affected by two or more loci.
Term
Pleitropy
Definition
A single allele that has multiple effects on an organism.
Term
Mutation
Definition
A mechanism for evolutionary change resulting from a random change in the genetic code; the ultimate source of all genetic variation.
Term
Heritability
Definition
The proportion of total variation of a trait due to genetic variation.
Term
Sickle Cell Allele
Definition
An allele of the hemoglobin locus. Individuals homozygous for this allele have sickle cell anemia.
Term
Monosomy
Definition
A condition in which one chromosome rather than a pair is present in body cells.
Term
Trisomy
Definition
A condition in which three chromosomes rather than a pair occur in body cells.
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