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ANTH 325
Human Variation
99
Anthropology
Undergraduate 3
02/28/2013

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Term
"Great Chain of Being"
Definition
outdated idea that all life is organized from least perfect to most perfect - humans
Term
In the past, human diversity was...
Definition
ancient, permanent, divinely ordained
Term
Do NOT use term race, use...
Definition
ancestry
Term
Sources of Variation
Definition
-genetics
-biological adaptation to enviro cond's (physiological)
-cultural
Term
polytypic species
Definition
species composed of populations that differ with regard to the expression of one or more traits (ex. Homo sapiens)
Term
acclimitization
Definition
physiological responses to change in the environment; can be temporary (sweating), permanent (skin pigmentation), or developmental (can only occur during growth & development)
Term
stresses necessitating acclimitization
Definition
hypoxia, intense solar radiation, cold, low humidity, wind, reduced nutritional base, and rough terrain
Term
genetic adaptation
Definition
population level effects of climate on morphological variation (Remember there is always variation WITHIN populations)
Term
Bergmann's Rule
Definition
average body size in cold climate populations larger than body size in warm climate populations
Term
Allen's Rule
Definition
animals in cold climates have on average shorter, bulkier limbs, whereas animals in hot climates have longer, narrower limbs
Term
Two types of cells
Definition
somatic
gametes
Term
somatic
Definition
any cell forming the body of the organism (ex. skin, muscle, bone, etc.)
Term
gamete
Definition
sex cell; sperm, ova
Term
chromosome
Definition
package of DNA containing 100's or 1000's of genes
Term
karyotype
Definition
organized profile of a person's chromosomes; average human - 23 pairs, 22 somatic + 1 sex (x or y)
Term
locus
Definition
where a particular trait is located, specific part of chromosome
Term
diploid
Definition
complete chromosome complement (23 pairs)
Term
haploid
Definition
half of the chromosome complement (23 single gametes)
Term
chromatid
Definition
arms of the chromosome
Term
centromere
Definition
connects the two sister chromatids (middle, non-coding)
Term
shorter chromatid
Definition
p
Term
longer chromatid
Definition
q
Term
homozygous
Definition
when two alleles on homologous chromosomes are identical
Term
heterozygous
Definition
when two alleles on homologous chromosomes are different
Term
genotype
Definition
genetic make-up of alleles
Term
phenotype
Definition
expressed traits; ex. what you look like
Term
gene
Definition
-DNA needed to code for a specific protein
-hereditary code for a particular trait
Term
Two types of genes
Definition
structural-body type, etc.
regulatory-turn expression of genes off & on
Term
Structural genes
Definition
produce proteins rquired for traits (ex. hair, bone, muscle, blood, etc.)
Term
Regulatory genes
Definition
controls timing of processes; especially in growth & development (Turn other genes on and off).
Term
DNA
Definition
deoxyribonucleic acid; double helix structure, consists of nucleotides that code for a specific structure; backbone-alternating sugar and phosphate; rungs are nitrogen bases; nuclear, mitochondrial-mtDNA
Term
RNA
Definition
ribonucleic acid; single strand; messenger mRNA, ribosomal rRNA
Term
mitochondria
Definition
organelle in cytoplasm that converts energy to a usable form - contains mtDNA - inherited ONLY from Mom
Term
replication
Definition
creating daughter cells
Term
protein synthesis
Definition
DNA molecule codes for specific amino acids that codes for specific protein; the creation of proteins by cells that uses DNA, RNA, and various enzymes
Term
two types of cell division
Definition
mitosis
meiosis
Term
mitosis
Definition
production of duplicate somatic cells:
-start with diploid cell
-duplicate chromosomes
-cell divides into two diploid cells
Term
meiosis
Definition
production of gametes
-begins with a diploid cell
-duplication of chromosomes
-cell divides producing two diploid cells
-those cells undergo a second division
-producing 4 haploid cells (which contain half of the genetic information)
Term
autosomal recessive
Definition
a pattern of inheritance in which an affected individual has two copies of the recessive allele for a trait on an autosomal chromosome; ex. include cystic fibrosis, PKU, sickle cell, Tay Sachs, albinism
Term
codominance
Definition
a pattern of inheritance in which both alleles are expressed equally - both alleles influence the phenotype; ex. AB blood type
Term
sex-linked traits
Definition
traits found only on the X chromosome, and not the Y; note-there are some Y-linked traits, but they are rare and little is known about them
Term
X-linked dominant
Definition
a pattern of inheritance in which an affected father and unaffected mother can only produce affected daughters; never passed father to son, all females of affected males are affected
Term
X-linked recessive
Definition
a pattern of inheritance in which a carrier mother can only produce a carrier or unaffected daughter, and an affected or unaffected son
Term
hemophilia
Definition
rare genetic bleeding disorder caused by a shortage of clotting factors; x-linked recessive
Term
Y-linked dominant
Definition
a pattern of inheritance in which an affected father can only produce affected sons - rare in humans (ex. hairy ears)
Term
forces of evolution
Definition
mutation
genetic drift
genetic flow
natural selection
Term
mutation
Definition
change in DNA sequence of a gene due to random error; only source of new genetic material; must occur in a gamete to have evo significance; most have a detrimental effect & are weeded out by natural selection - however, in some cases mutations can be advantageous
Term
genetic drift
Definition
ecological crises causes most individuals to die without passing on their genes; random change in allele frequency (ex. catastrophe); occurs in every generation unless only one allele present; greater effect on small populations than large
Term
genetic flow
Definition
movement of genes from one population to another; introduces new genes into a population; increases population variation within; decreases population variation between population; greatest determinant - geographical distance
Term
natural selection
Definition
process by which genotypes & phenotypes with greater fitness leave, on average, more offspring than do less fit genotypes and phenotypes; acts first on viability, then on fertility; different levels of fitness depending on genotypes or phenotypes
Term
Two types of mutations
Definition
-chromosomal
-point
Term
monosomy
Definition
missing chromosome
Term
Cri du chat syndrome
Definition
-catlike cry
-problems with larynx & nervous system
-microcephely
-cognitive delays
-growth retardation
-wide-set eyes
Term
Turners syndrome
Definition
-female with one X
-short stature
-wide chest
-webbed neck
-puffy hands & feet
-hormonal disturbance
Term
Kleinfelter's syndrome
Definition
-trisomy men have XXY
-tall
-thin
-small genitals
-infertility
Term
trisomy
Definition
three instances of a particular chromosome; ex. Klinefelter's syndrome XXY
Term
syndrome
Definition
suite of characteristics associated with a specific condition
Term
point mutation
Definition
a mutation than changes only one small area or one nucleotide in a gene; ex. sickle cell anemia
Term
sickle cell anemia
Definition
red blood cells change shape and do not carry hemoglobin well
Term
achondroplasia
Definition
caused by a single dominant gene; short limbs, long trunk, large head w/prominent forehead, often occurs due to nucleotide mutation
Term
natural selection observations
Definition
-species produce more offspring than can possible survive
-part of the variation in the ability to survive and reproduce is heritable
-individuals vary in their ability to survive and reproduce (fitness level)
also
-can either increase or decrease within population variation
-the only evolutionary force that has direct adaptive consequences
-favors useful genes, while eliminating deletrious ones
Term
two types of traits
Definition
-simple (ex. A, B, or O blood type)
-complex
Term
stabilizing selection
Definition
ex. birth weight
No major change in mean size; reduces variation
Term
directional selection
Definition
ex. brain size
selection against one extreme or the other; causes a change in the mean
Term
selection for complex traits
Definition
selection for extremes; disruptive; results in a bimodal distribution
Term
Mendelian genetics
Definition
study of mechanisms by which heritable traits are passed
Term
population genetics
Definition
looks at how the variation in a population is modified by the forces of evolution; quantitative study of how genes are distributed within and across populations and how gene distributions are patterned against time and space
Term
pedigree chart
Definition
diagram showing family relationships in order to trace the hereditary pattern of particular genetic traits
Term
breeding population
Definition
group of actual or potential interbreeding individuals of the same species; in humans, defined based on specific questions: spatial, ethnic, language, etc.
Term
gene pool
Definition
all genetic material within a population
Term
evolution
Definition
change in allele frequencies in a population over time
Term
Hardy-Weinberg law of equilibrium
Definition
mathematical model in population genetics that reflects the relationship between frequencies of alleles andof genotypes
-can be used to determine whether a population is undergoing evolutionary change (in a particular trait)
-application of Mendel's principles for populations
-the frequencies of different alleles in offspring are determined by the allele frequencies in the parents
Term
exogamy
Definition
mating with individuals from groups other than their own; increases chances of new variation
Term
endogamy
Definition
mating with individuals from same group; decreases chance of new variation
Term
Assumptions of Hardy-Weingberg
Definition
-infinitely large population
-no mutation
-no gene flow
-no natural selection
Given this, a population's genotype and allele frequencies will remain unchanged over successive generations
Term
Genotype frequency in a population=
Definition
number of individuals with genotype divided by number of individuals in population
Term
frequency (AA)=#AA/population size
Definition
The mathematical relationship expressing the predicted distribution of alleles; provides tool to establish whether allele frequencies in a human population are changing
Term
4 nitrogen bases
Definition
adenine
thymine
guanine
cytosine
Term
complimentary base pairs
Definition
A-T or C-G
Term
nucleotide structure consists of
Definition
phosphate, sugar, and nitrogenous base (A,C,T,G); order of bases are what makes up the code
Term
triplet
Definition
a three base code in DNA; every three bases code for a specific amino acid
Term
DNA replication
Definition
weak hydrogen bonds are broken between bases on the DNA molecule separating it into two strands
Term
replication
Definition
each side of the DNA molecule serves as a template that is matched up with a new base from the cytoplasm; the complimentary paired new strands of DNA create a new duplicate strand of DNA
Term
transcription
Definition
the formation of RNA from one of the paired chains in the double helix DNA; mRNA make copies of one half of the DNA strand and takes the code out from the nucleus to the cytoplasm for protein synthesis
Term
RNA differs from DNA
Definition
-single stranded
-contains a different type of sugar
-instead of thymine, it contains the base uracil
Term
codon
Definition
a set of three adjacent nucleotids - aka a triplet
Term
transfer RNA tRNA
Definition
tRNA brings a particular amino acid that is coded for by a specific anticodon to match the codon on the mRNA. A chain of amino acids forms a protein
Term
anticodon
Definition
three bases in transfer RNA
Term
heredity
Definition
transfer of genetic info from one generation to the next
Term
gene
Definition
unit of heridity
Term
allele
Definition
alternate form of a gene
Term
Mendel's Law of Segregation
Definition
two alleles at a locus segregate when gametes are formed; one allele to each gamete
Term
Mendel's Law of Independent Assortment
Definition
alleles at different loci segregate independently of one another; segregating pairs of alleles sort independently - not linked
Term
patterns of inheritance
Definition
autosomal
-dominant
-recessive
-co-dominant
sex linked
-x-linked recessive
-x-linked dominant
-y-linked
-mitochondrial
Term
hybrid
Definition
heterozygote-offspring of individuals that differ with regard to certain traits or certain aspects of genetic makeup
Term
pedigree chart
Definition
diagram showing family relationships in order to trace the hereditary pattern of particular genetic traits
Term
linked
Definition
describing genetic loci or genes located on the same chromosome (sex linked)
Term
Punnett square
Definition
shows different allele distribution from given parent genotypes for EACH offspring
Term
autosomal dominant
Definition
a pattern of inheritance in which an affected individual has one dominant allele for a trait and one recessive allele on an autosomal chromosome; ex. Huntington's, neurofibromitosis, polycystic kidney disease
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