Genetics Final Exam 2 Flashcards

Terms Definitions
Turner syndrome
Point Mutation Disease
central centromere = ?
A lysosomal storage disorder
kills the host
Griffith Experiment
What chromosomal abnormality is described as only one of a particular chromosome?
Transport dietary triglyceride and cholesterol from intestin to tissues; Apoproteins B-48, C-II, apoE; secreted by epithelial cells and activates lipoprotein lipase uptake by liver
composed of proteins plus rRNA
preservation of chromosome number between sexual generations
rRNAs are produced
component of ribosomes
The process by which homologous chromosomes partially wrap around each other and exchange genetic information during meiosis
offspring whose phenotype differs from that of the parents; also called recombinant types
Congenital abnormalities that occur in combinations that are more or less fixed giving a consistent pattern
What is FISh used in?
Microdeletions-william-syndrome (22q11.2) micro translocations-wolf hirschhorn syndrome, cancer-tumor studies
Transports triglyceride from liver to tissues. Apoproteins apoB-100, apoC-II, apo E; secreted by liver, activates lipoprotein lipase, uptake of remnants by liver
negative assortative mating
preferential mating between phenotypically unlike partners
following cytokinesis of meiosis 4 _______ gametes are produce. each gamete received a mixture of genetic information
the carrying of genetic information from one bacterium to another by a phage
Silent Mutation
point mutations that do
not produce a detectable phenotypic change–Intergenic
region –Intron –5’
or 3’ UTR –Wobble
position of codon

chromosomes that are not sex chromosomes
G2/M transition
Transition btwn the second "growth" phase of the cell cycle to mitosis.
standard error for allele frequencies when using a two-allele model
Error in meiosis in which homologous chromosomes fail to seperate
exchanges genetic info with another of its species; offspring is not identical to either parent
The probability that an individual who carries one copy of a dominant allele OR two copies of a recessive allele shows the condition. 
May be age dependant i.e. male pattern baldness
the Hardy-Weinberg principle
specifies the relationship between gene frequencies and genotype frequencies. It is useful in estimating gene frequencies from disease prevalence data and in estimating the incidence of heterozygous carriers of recessive disease genes.

a segment of DNA specifying a particular product (usually a protein)
The following are treatments for what disease; Replacement with recombinant enzymes  effective but expensive Bone marrow transplantation Gene therapySubstrate deprivation  deoxynojirimycin
recipient pop of migration. Can calc new allelic freq. if we know original allelic freq of donor and recip pops, and the proportion of conglomerate pop that is due to migrants. ΔpC = m(pD – pR). ΔPC = change in allele freq in conglomerate pop. PD is allele freq. in donor pop. PR in orig. recipient pop. M = proportion of migrants that make up conglomerate pop……m=# donor individuals in cong / total # individuals in conglomerate.
DNA synthesis at the __________ strand is discontinuous. Synthesis at the __________ strand is continuous. ______________, or short strands of DNA, occur on the ___________ strands.
laggingleadingOkazaki, lagging
an individual who possesses a mutant allele but does not express it in the phenotype because of a dominant allele partner; thus, an individual of genotype Aa is a carrier of a if there is complete dominance of A over a
the nucleoside having thymine as its base
Refers to the interaction of two genes which are non-allelic. It is the masking of the action of alleles of one gene by allelic combinations of another gene.
antisense RNA
an RNA molecule complementary in nucleotide sequence to all or part of a messenger RNA
Region between break points is called heteroduplexMismatches (base-pair differences between the two alleles in heterozygote) within them lead to gene conversion.
genetic marker
inherited genetic trait with readily recognizable alleles. a polymorphism that can be easily detected
Wolfram syndrome
A rare autosomal recessive disorder that leads to many different abnormalities, including diabetes mellitus, deafness, and blindness. Patients usually also suffer from severe abnormalities of the nervous system that can be accompanied by behavior problems, psychiatric hospitalizations, and, in 25 percent of cases, suicide attempts.
Imprinting is
DNA modification in gametogenesis that effects gene expression in the zygote.
Reverse mutation
mutant mutates to wild type allele
Homologous chromos duplicate to form sister chromatids; 2 sister chromatids split to form 4 gametes, each with one chromo. If two original homologous chromosomes were the same, all 4 gametes would be the same
Diploid Meiosis
Sex chromosomes in a normal male somatic cell
the science of heredity, dealing with characteristics of related organisms resulting from the interaction of their genes and the environment
dihybrid cross
cross between 2 organisms that are heterozygous for 2 traits
true breeding
displaying only one form of a particular trait in offspring
In Familial hypercholesterolemia, what are the cholesterol levels?
between 600 – 1000
Reciprocal Translocation
An exchange of material between two non-homologous chromasomes.
two or more cell lines developed by more than one zygote, in one organism
replica plating
demonstrated that mutations are not a result of physiological adaptation
Mutation rate
probability that a gene will be altered by a new mutation = # of new mutations in a given gene per generation. Usually around 10-5 – 10-6. Increased by mutagens.
mutation rate
the number of mutation events per gene per unit of time (for example, per cell generation)
controlling element
a mobile genetic element capable of producing an unstable mutant target gene; two types exist, the regulator and the receptor elements
the synthesis of RNA using a DNA template
When does MCAD deficiency present?
after period of fasting
Protein synthesis
the assembly from amino acids, which occurs at ribosomes in the cytoplasm and is based on iniformation carried by mRNA
dominant negative mutations
involves mutation where the altered gene product interferes with the product of the normal allele. usually when protein product has multiple components and mutant protein disrupts the final product
hematopoietic stem cell
An unspecialized precursor cell that will develop into a mature blood cell.
Aminoacyl-tRNA synthetase
The enzyme that attaches the correct amino acid to a tRNA molecule.
E site
One of a ribosome’s three binding sites for tRNA during translation. The E site is the place where discharged tRNAs leave the ribosome. (E stands for exit.)
The genetic constitution of a cell, an organism, or an individual, usually with reference to a specific character under consideration.
Pair of chromosomes, one of which is derived from a person's father and the other is derived from a person's mother.
co dominance
of or pertaining to two different alleles that are fully expressed in a heterozygous individual.
the ability of a gene to affect an organism in many ways
An infant presents with irritability, pale skin, sweating, heavy or rapid breathing, poor feeding and poor weight gain. What condition do you suspect?
Coarctation of the aorta
gene splicing
Only after ___ is complete, does the mature transcript move out of the nucleus into the cytoplasm
What is a common oral finding in Downs patients?
Diauxic growth
sequential use of 2 sugars by a bacterium
t/f proteins are the genetic material responsible for inheritance-
F, nucleic acids
Antibiotic-resistant mutants
mutants that are able to grow in presence of an antibiotic
Terminus of replication
When there are two replication forks, they proceed in opposite directions from the origin and come together on the other side of the circle.
a set of all mRNA transcripts in a cell (at a given time, under certain
What regulatory RNA targets histone proteins?
lncRNA (long noncoding RNA)
phase unknown
the value of that that gives the largest ratio is the most likely value of the recombination fraction (maximum likelihood estimate)
Dominant allele
an allele that masks the presence of a recessive allele.
cysteine, taurine, tyrosine, histidine and arginine
are semiessential amino acids in children, because the metabolic pathways that synthesize these amino acids are not fully developed.
Recombinant DNA molecules
– chimera of 2 DNA fragments from different sources
transposable genetic element
a general term for any genetic unit that can insert into a chromosome, exit, and relocate; includes insertion sequences, transposons, some phages, and controlling elements
independent segregation of chromosomes
maternal and paternal copies of each chromosome segregating randomly during meiosis I2 simultaneous meioses of 2 identical gametocytes could yield different productsthere are 2n (223 for humans w/ 23 chromosomes) possible combinations in the gametes
bacterial artificial chromosome (BAC)
Large segments of DNA, 100,000 to 200,000 bases, from another species cloned into bacteria. Once the foreign DNA has been cloned into the host bacteria, many copies of it can be made.
What are most common heart problems in Down syndrome
septum-primum type ASD
Does cancer often occur after one mutation or multiple mutations?
Usually multiple mutations are involved
Transcription of rRNA genes is done by _____________ in the ____________.
RNA polymerase Iin the nucleOlus
Do identical twins look alike?
Yes, identical twins look the same. They may act differently.
XAXa + XaY = 50% all kids have
Results of sexual reproduction
What other cultures are known to have sickle cell?
Hispanic, greek, italitan, arabic, asain, indian
Describe the consequences of complete linkage of genes
- occurs when genes are extremely close together on a chromosome - neither crossing over nor independent assortment will occur - will produce only nonrecombinant genes
occurs in small regions of seq. homology (10-20 bp)
-Occurs when phage lambda intergrates into genome of E.coli between bio and gal
Describe the features of pedigrees that display autosomal dominant inheritance
- traits do not skip generations - heterozygote crossed with wild type will yield 3/4 affected offspring - two heterozygotes yield 3/4 affected offspring - unaffected people do not transmit the trait
What evidence suggests that genes are linear?
genes are arranged in some linear order b/c map distances are additive ---> let's just say we have genes A, B, and C, then the distance between A-C is the sub of distances between A-B and B-C.
*21. Junior scientist crossed a female Drosophilla with genotype ZZ (Zz) with a male drosophila having genotype ZZ?
Not waste her time since the mutation must be recessive
How is recombinant DNA tech used to produce products like human insulin and bovine growth
The gene humans or cows use to make this product is inserted into bacteria, which produce the product
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