Genetics Final

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the stronger allele which is expressed of only on one chromosome dominant
an allele which must be present on both chomosomes to be expressed recessive
visible expression of the alleles phenotype
actual alleles present to form a trait genotype
chromosomes that do not differ betweenn the sexes autosomes
one chromosomes pair, either XX or XY sex chromosomes
a feild in genetics which addressees many issues in applying medical thechnology bioethics
a feild in genetics which considers many genes at a time genomics
a new field that considers the proteins made in a particular cell type proteomics
the use of organisms to produce goods or services biotechnology
the complete set of genetic information characteristic of an organism genome
all the alleles in a population gene pool
Life is organized into how many domains? three, Archea, Bacteria, Eukaryotes.
Human cells are organized into this many categories 4; epithelial, muscle, nervous, connective tissues.
A macromolecule that is onvolved in nerve transmission, blood clotting,a dn making enzymes is a what? protein
A macromolecule that is involved in making hormones, storing energy, and insulation is a ... lipid
The pahses of mitosis occur in the following order prophase, metaphase anaphase telophase
a cell will replicate its DNA in the s phase
the function of CAM's involve enabling cells to adhere to others
the number of cell lines that stem cells can develop into is approximately 330
stem cells that are taken from the very early embryo are termed totipotent
sperm are produced in the seminiferous tubules
sturctures that secret an alakline mucus that coat the urethra before sperm are relased are bulbourethral glands
a structure that stores and matures sperm is the a epididymis
oocytes are hapolid cells
a type of miscarriage called a "blighted ovum" is cuased by sperm fertilizing a polar body
when an ovary releases an oocyte a woman is in the ovulation phase
six weeks after conception, a human would be termed an embryo
when an embryo dividees after the point at which the two groups of cells can develop as two individuals is conjoined twins
The embryo forms the basic layers, endoderm, mesoderm, ectoderm
The idea that an inherited trait is unchangeable and its appearance inevitable is the concept of genetic determinism
a more accepted term for the"cell membrane" is the plasma membrane

the chromosome tips that function like a cellular fuse that burns down as pieces are lost from the very ends are called telomeres
toward the middle of prophase I in emiosis, the homologs exchange parts in a process called crossing over
the third primary germ layer that forms in the middle is the mesoderm
The time when genetic abnormalities, toxic substances, or virusus can alter a specific stucture in an embryo is called its critical period
when blastomeres form a solid ball of sixteen or more cells the embryo is called a morula
Microtubules, microfilaments, and interemediate filaments are three major types of elements of the cytoskeleton
Organisms in the Archae and Bacteria consists of prokaryotic cells
the notochord is a structure that forms the basic framework of the nervous system
single base sites that differ among individuals single nuecleotide polymorphisms SNPs
Smooth endoplasmic reticulum manufactures or synthesizes lipids in the cell
rough endoplasmic reticulum manufactures proteins; have ribosomes on them m
mitochondria break down nuterients taken in by the cell to form Adnosine triphosphate or ATP
Lysosomes float around the ell and get rid of toxic waste in the cell
programmed cell death apoptosis
finger-like projections that extend from the area of the embryonic disc close to the uturine wall chorionic villi
lins woman and fetus for the rest of the pregnancy providing nutrients and oxygen to the fetus placenta
forms around the blood vessels and attaches to the center of the placenta umbilico cord
supporting stuctures that manufacture blood cells during pregnancy yolk sac
units of heredity genes
DNA deoxyribonucleic acid
changing in DNA sequencing that distinuishes alleles mutation
DNA wrapped around proteins; humans have 23 pairs of these, 46 totale chromosomes
karyotype pictures of all 23 chromosomes
traits an illnesses determined by single genes mendelian traits
dertimed by one or more gene and the enviornmnet multifactorial
comparing DNA sequences to rule out identity, relationships, and ancestry DNA profiling
where sugars and synthesized and linked, or they attach to proteins, and proteins finish folding where? Golgi Apparatus
breaks down lipids and rare biochemicals; synthesizes bile acids peroxisome
communication from outside the cell to inside the cell signal transduction
proteins that enable a cell to sick to other cells CAMS
shapes cells cytoskeletion
three phases of "interphase G1 S G2
phases of mitosis prophase metaphase anaphase telophase
what does cytokinesis do? separates the cytoplasm
how do cells know how many times to divide? telomeres
taking nucleus of a healthy adult cell and putting it into an egg of another cell? somatic cell nuclear transfer
defect in which cell organelle would most likely cause fatigue mitochondria
another name for sex cells gametes
another term for reproductive organs gonads
main mail reproductive organs testes
sperm develop in the seminiferious tubules
a zygote divides by mitosis, betginning a period of frequent cell division called cleavage
when the blastomeres form a colid ball of sixteen or more cells morula
the ball of cells holoows out and its center fills with fluid creating a blastocyst
anoher term for "fraternal" twins dizygotic
chemicals or other agents that cuase birth defects are called tetratogens
long tube in the male reproductive structure which joins to the urethra vas deferens
secretes flud that activates sperm to swim prostate
prenatal human considered a _____ for the first eight weeks embryo
Meiosis occurs in germline cells true
crossing over occurs in prophase of meiosis 1 true
a chaisma is anothe rname for an allele false
meiosis 2 in the ovum is complete after.... fertilization
the skin eyelense and nervous system are form from the endoderm false
Armadillos always give birth to identical quadruplets. are the offspring clones? yes, natural clones
mendel followed the inheritance of triat throug several generations in pea plants
mendel called physical units responsible for the inheritance of traits "characters" the basis for his first law is that characters separate from each other during meiosis
mendels characters are genes
a person who has two identical elleles for a particular gene is __ for that gene homozygoues
alleles are alternate forms of a single gene
the genotype of a particular trait refers to the combination of alleles of a gene
The second generation resulting from a typical genetic cross is F1
In a family that starts with you and your spouse, your grandchildren qould be considered the f2
monohybrid cross Bb xBb
An autosomal dominant trait can affect either sex
a __ cross yeilds a genotypic ratio of 1:2:1 and a phenotypic ratio of 3:1 monohybrid
the pheotypic ratio expected from a dihybrid cross is 9:3:3:1
a man and his wife are bothe carries or the recessive allele cauing tay-sachs disease. If they have a normal child, what is the probability that the child is a carrier not a sufferer of Tay sachs 2/3
No matter how many children carriers of an autosomal recessive disorder have, the chances that their child will get the disorder is 1/4
in a human pedigree that traces the inheritance of sickle cell diease, a half- filled square represents heterozygous female
Mendel's laws derive from meiosis
In a pedigree, autosomal receissive traits tend to skip generations
Some combinations of alleles cause problems so severe that the fetus ceases to develop. Such lethal allele combinations appear to alter Mentalian ratios because homozygotes do not appear as progeny class
Allele T (Long tongue) exhibits incomplete dominance over the recessive allele t (short) tongue.A herterozygote for the tongue gene would have a tongue of intermediate length
Different alleles that are bothe expressed in a heterozygote are c codominant
Can a woman with blood type A have a child with blood type O with a man qho is AB yes because of epistasis between the I and H genees
Some poeple with polydactyly have more than 5 fingers, while others do not. This is an example of a phenotype that is e incompletely penetrant
A family has an autosomal dominant condition where the second toe is attached by webbing to the third tow and is linger than the big toe. Only some familyi memberswho inherit the mutant gen have the odd toe, and the extend of webbing, variies. This pheotype is incompletely penetrant and variable expressed.
a mendelian disorder that has many assoicaited symptoms is pleiotropic
A trait caused by an enviornmental invluence that appears to be inherites is a phenocopy
In a heterozygote for two linked genes, when both dominant alleles are on one chromosome and both recessive alleles are on the other, the gens are in cis
A gene may have many alleles but a person only has tow alleles because a gene can be altered in many ways, but a person has only two ccopies of any gene
The alleles that control wchich blood grop antigens appear on the surfaces of red blood cells are codominant
A man with a recessive deafness allele on chromosome 17 marries a woman who also has a recessive deafness allele, but on chromosome 3. The probabiility that their children will be deaf is closest to 0%
Mitochondiral DNA differs from nuclear DNA in that it lacks repair mechanisms, introns, and doees not cross over.
Name a disease caused by a mutation in mitochondiral DNA Leber's hereditart optic neurophathy.
The mode of transmission of all mitochondrial traits is unusual in that it pases fro mothers to all children
x-linked genes have different patterns of exxpression in females and males because there is no second copy of these genes
Linkage maps of the Y chromosome have been difficult to construct because
the Y chromosome has no homolog with which to cross over.
in males, genes on the X chromosome are expressed
in humans, a male inherits on one X from his mother and his father's Y
If a woman has a brother who is color blind she has a ___ chance of being a carrier 50%
X-linked alleles pass from mothers to sons and daughters
human males are hemizygous
females are the homogametic sex
males and females are genetically equavalet because an X chromosome is in activated in female cells
A gene that determines the heaviness of a man's beard is sex-linked
An allele that is dominant in one sex but recessive in the other is Sex-influenced
A gene on the Y crhomosome that determines maleness is called SRY
in genomic imprinting, the expression of a genetic disorder depends on which
parent transmits the diesase causing allele
Disorders that are seen in men who have grandsons through their daughters who also express the disorder (the grandson) have an X linked recessive disorder
Prader-willi and Angelman syndromes ar related to one another as a result of genomic imporint
causes death before the individual can reporduce
lethal alleles
because of mutation, these can exist in more than two forms and are called (Cystic fibrosis) multiple alleles
the heterozygous phenotype is distinct from either homzygous phenotype ; may be an intermediate phenotype vs. the homozygous dominant (ususally completely healthy on a molecular and whole body level) or homozygous recessessive (unhealthy on whole body and molecular level) incomplete dominance
both alleles are expressed in heterozygotes; blood type codominance
one gene affects the epression of a second gene ; H protein on ABO blood type. Refers to ainteraction between different genes, nnot between the alleles of the same gene. epistaiss
all or none expression of a genotype; the phenotype is not always observed among individuals carryingt the genotype, expresed or not <--- incomplete penetrence
severity or extent; variable; phenotype that varies in intensity expressivilty
one gene has many symptoms pleiotropy
different gense can produce identical phenotypes genetic heterogeneity
what do 13 of the 37 mitochondrial genes code for? proteins that function in cellular respiration
DNA sequences have counterparts on the X chromsome and can cross over with them psuedoautosomal regions
controls the expression of other genes transcription factors
human males are this for X linked traits because they only have ones set of X linked genes hemizygous
affects a structure or function of the body that is present in only males or only females sex-limited traits
an allele is dominant in one sex both recessive in the other. se-influenced
balences out inequality in the expression of genes on the X chromosome X inactivation
friedick griffith discovered the process of transformation
the cientist who confirmed that DNA was the gentic mateial through experiments with radioactively labeld viruses and bacteria were Hershey and Chase
Erwin Chargaff showed that DNA contains equal parts of of adenine and thymine
the sides of the DNA ladder consists of sugars and phosphates
the ters 5 prime and three prime refer to numbered carbons on the sugars
the nitrogen bases in DNA are held together by hydrgen bonds
which of the following is not part of the substance "chromatin" ligase
An enzyme that can unwind DNA and can repair errors in the replicated DNA is called DNA polymerase
the major replication enzyme that has the job to add bases to an existing strand is RNA polymerase
The enzyme that seals the sugar-phosphate backbone of the pieces formed is ligase
Three mRNA bases in a row form a genic fcorde word calle a codon
A special sequence that signals the start of a gene is a promoter
the parts of mRNA that are translated are exons
Central dogma of biology DNA to RNA to protein
Molecule that carries amino acids to the ribsomes where they are joined to rom a polypeptide tRNA
After transcription and before translation, eikaryotic mRNA is modified by adding a   cap of modified nucleotides and a poly-A tail
The linear order of aminoacids in a polypeptide is the ___ structure of a protein Primary
Spongiform encephalopathies, such as mad cow disease, are caused by Misfolded proteins
Polymerase Chain reaction is used to Create millions of copies of a piece of DNA
Nucleotides consists of Deoxyribose, phosphate group and a nitrogenous base
Pyrimidines are Guanine and cytosine
DNA’s orientation. 5’ to 3’; forms the double helix Antiparallelism
Segments of DNA that have been sealed off by ligase Okazaki fragments
Speeds up the hydrolysis of single nucleotides from the end of a DNA or RNA strand Exonuclease
Place in which DNA is opened and divided into the template and coding side
Replication fork
4 SNRPs together; take out introns to make mature RNA Spliceosome
One side of the parent DNA is present in the first generation offspring. They are exact copies, but the original DNA is replicated to 2 offspring in generation 2 Semiconservative
3 types of RNA Transfer Messenger ribosomal
The conformation of a protein refers to its number of peptide bonds False
The site on the ribosome which holds the next amino acid to be added to the chain is the “a site” True
A protein with 2 ubiquitin tags may straighten itself out and refold correctly False
A TATA region is surrounded on both sides by repeating guanines (GGGGG) False
Proteins consisting of more than one polypeptide form a tertiary structure False
Replication proceeds in a 5’ to 3’ direction True
3mRNA bases in a row Codon
3 tRNA bases in a row Anticodon
75-80 nucleotides in a loop Shape of tRNA
Base sequence TATA surrounded by long stretches of G and T TATA box
Small proteins to form smaller nuclear ribonucleoproteins Snurps
In humans the most frequently aneuploid is Trisomy 21
A chromosome that the centromere divides into two arms of about equal length is metacentric
A chromosome that results when the centromere splits in the wrong plane during meiosis, forming identical arms, is Isochromosome
Uniparental disomy results when a child inherits Two alleles from one parent
A cell that has three copies of every chromosome is Triploid
Polyploidy can result when Two sperm fertilize an egg
Fetal karyotypes can reveal which of the following Gender
Maps that show chromosome size, bands and individual genes are called Ideograms
This type of cell could not be used for karyotyping Red blood cell
An extra set of chromosomes constitutes Polyploidy
In cytogenetic studies, chromosomes are usually examined during mitotic Metaphase
Males born with an extra y chromosome May be tall but are otherwise normal
A chromosomal inversion that does not include the centromere is Paracentric
Only nine types of aneuploids are known in newborns because Most types of aneuploids are lethal early in development
Spindle fibers (microtubules) attach to a chromosome’s ____ during mitosis Centromere
A child with cat’s cry syndrome has A missing part of chromosome 5
People with Turner syndrome have which chromosome constitution X0
Chromosome _ is the largest 1
Chromosome 21 is the Smallest
Meiotic error that results in an aneuploids cell is Nondisjunction
Heterochromatic regions at the ends of chromosomes are Telomeres
People with Kleinfelter syndrome have which chromosome constitution XXY
CVS reveals a fetus has the karyotypes 45 X what is the diagnosis Turner Syndrome
Cells that have an extra 21st chromosome are Trisomic
Edward syndrome has the karyotpe 47 XX + __ 18
Anueploidy may occur in some cells of an individual if nondisjunction happens in A skin cell in an adult
Part of the chromosome where spindle fibers attach Kinetochore
The light parts of the chromosomes that encode for RNA production and proteins Euchromatin
When the centromeres of a chromosome are at the top of the chromosome, causing two long arms in a chromosome Acrocentric
DNA is flagged on chromosomes w/ specific base pairs and are highlighted FISHing
In the procedure “chorionic villus sampling” A karyotpe is prepared directly from collected fetal tissue cells
The satellite regions that distinguish chromosomes 13, 14, 15, 21, and 22 are Repeated genes that encode rRna and protein
Karyotype 47, XYY is Jacob’s syndrome
Abnormal chromosomes account for 50% Of spontaneous abortions
A region of a chromosome where genes are repeated is a Duplication
Mutation large enough to see with a light microscope is a Chromosomal aberration
Links chromosome variations to specific traits Cytogenetics
Repetitive DNA sequences Heterochromatin
Protein encoding sequences Euchromatin
Labeled piece of DNA that binds to its counterpart sequence on a chromosome DNA probe
Graphical representation of a karyotype Ideogram
Any group of members of the same species in a given geographical area is a Population
Gene flow is the Movement of alleles between populations
The formation of a new species is the result of Macroevolution
In human populations, Hardy-Weinberg equilibrium is achieved Infrequently, and in large communities with random mating
In the Hardy-Weinberg Equation, 2pq refers to the Proportion of heterozygotes in a population
In a population in Hardy-Weinberg equilibrium, frequency of a dominant allele is P
In a population in HWE the frequency of a recessive allele will Remain the same over time
Hardy-Weinberg equilibrium is achieved in a population where Mating is random
Which group is used to calculate the frequency of an allele in a population? Homozygous recessives
This cannot alter a gene’s frequency in a population Random mating
The probes used in DNA fingerprinting recognize specific region that Vary greatly among individuals
A founder effect within a founder effect occurred with the ___ population of _____ French Canadian; Quebec
The frequency of the allele that causes sickle cell disease is higher in some populations than others because The incidence of malaria differs in different parts of the world
In human populations, inbreeding results in Fewer heterozygotes and more homozygotes
The collection of deleterious alleles in a population is called the Genetic load
Resistance of sickle cell disease carriers to malaria illustrates Balanced polymorphism
These can maintain the frequency of deleterious alleles in a population Mutations
Geographical barriers that influence gene frequencies are called Clines
Consanguineous marriages occur between men and women who are Blood relatives