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112 Cards in this Set
- Front
- Back
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pedigree
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A pictorial representation of a family history which geneticists use to study human inheritance
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monozygotic twins
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often called "identical" and are expected to share 100% of their alleles.
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What traits aren't passed from father to son?
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X-LINKED
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dizygotic twins
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can be of the same sex or two different sexes.
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What traits affect males and females equally?
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autosomal recessive
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Higher concordance in monozygotic twins compared to dizygotic twins means what?
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high genetic influence
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what traits are very rare for female?
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x-linked recessive
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concordant
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If both members of a twin pair exhibit a trait of interest
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preimplantation
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allow couples who are at risk of having a child with a genetic defect to avoid producing a child who has the disorder.
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karyotype
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picture of a complete set of chromosomes from an individual.
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Genetic Information Nondiscrimination Act
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prohibits health insurers from using genetic information to make decisions about health insurance coverage and rates, and employers from using genetic information in employment decisions.
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What trait is passed from father to all of his sons and none of his daughters?
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y-linked trait
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what trait affects both males and females equally and they come from at least 1 infected parent?
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autosomal dominant
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What kind of trait is color blindness?
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X-linked recessive
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nondirected counseling
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genetic counselors have helped families to reach their own decisions about reproductive and medical choices
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what trait affects more females than males?
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X-linked dominant
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3 point cross
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is a test cross for 3 different genes
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recombinant
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Gametes that contain new combinations of alleles not present in the parents
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Coefficient of coincidence.
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The ratio of the observed number of double crossovers to the expected number of double crossovers
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crossing over
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Linked genes occasionally switch from one homologous chromosome to the other
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telocentric
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A chromosome in which the centromere is located approximately at or very near the end of the chromosome
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inversion
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A chromosome rearrangement in which a chromosome segment is turned 180o is a chromosome
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What chromosome is affected in ppl with down syndrome?
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21
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In which type of chromosome mutation is one or more sets of chromosomes added?
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Polyploidy
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Unequal crossing over produces which type of chromosome mutation?
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deletion and duplication
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monosomy
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loss of a single chromosome
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A chromosome in which the centromere is closer to one end of the chromosome than the other is
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submetacentric
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Chromosome duplications usually cause phenotypic effects by what?
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unbalanced gene dosage
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A chromosome in which the centromere is near one end is:
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Acrocentric.
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In which type of chromosome mutation is one or more individual chromosomes added or deleted?
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Aneuploidy.
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tandem
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A chromosome duplication in which the duplicated region is immediately adjacent to the original segment
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karyotype
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A complete set of chromosomes, usually presented as a picture of metaphase chromosomes lined up in order of size
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What inversions involve the centromere?
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pericentric
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What inversions does NOT involve the centromere?
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paracentric
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trisomic
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A trisomic has 2n + 1 chromosomes
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Nullisomy
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The loss of both members of a homologous pair of chromosomes
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uniparental disomy
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The inheritance of both homologous chromosomes from the same parent
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Trisomy
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gain of a single chromosome
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tetrasomy
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gain of 2 electrons
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pseudodominance
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The expression of a normally recessive mutation due to a deletion
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cri-du-chat is caused by what?
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a deletion of a part of the chromosome
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reciprocal translocation
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Two-way exchange of segments between two nonhomologous chromosomes
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metacentric
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centromere is located in the middle of the chromosome
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What structure of DNA consists of a string of nucleotides joined together by phosphodiester linkages.
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primary structure
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what did conrat and singer do?
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demonstrated that RNA carries genetic information in tobacco mosaic virus.
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What is sugar in a DNA nucleotide?
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deoxyribose
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What did Miescher do?
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The first person to isolate and describe nucleic acids (from pus)
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what group protrudes from the 5' end of a polynucleotide strand.
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phosphate
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what did fred griffith do?
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discovered transformation in the bacterium Streptococcus pneumonia by injecting living IIR(non disease causing) + dead IIIS (disease causing)
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mutation
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A change in the genetic material that leads to new genetic variation
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what did Hershey and Chase do?
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used a radioactive isotope of phosphorus to label the DNA component of bacteriophages.
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What structure of the genetic material refers to the folding that allows it to be packed into the confined space of a cell.
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tertiray structure
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topoisomerase
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An enzyme that can either induce or relieve supercoiling in DNA by adding or removing rotations from the helix
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chromatin
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The combination of DNA and protein in chromosomes of eukaryotic cells
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supercoiled
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when DNA is over or under wound compared to relaxed state
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epigenetic
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Most centromeres are not defined by specific DNA sequences but rather by ___________ changes in chromatin structure.
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histones
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The most abundant proteins in chromatin and which carry a net positive charge.
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shelterin
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A multiprotein complex binds to mammalian telomeres and helps to stabilize the ends of chromosomes.
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genomic imprinting
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The phenomenon in which an allele is expressed differently in an individual depending on whether it came from the male or female parent
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centromere
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constricted region of the chromosome to which spindle fibers attach and is essential for proper chromosome movement in mitosis and meiosis.
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heterochromatin
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The part of chromosomal material that remains highly condensed and inactive throughout the cell cycle
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topoisomerase
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An enzyme that can either induce or relieve supercoiling in DNA by adding or removing rotations from the helix
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What inhibits the beginning of anaphase?
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a signal from the centromere
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discontinuous traits
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Characteristics that have a few easily distinguished phenotypes
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continuous traits
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Characteristics that exhibit many overlapping phenotypes
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polygenic
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Characteristics encoded by genes at many loci
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sex limited traits
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encoded by autosomal genes that are expressed only in one sex.
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sex influenced traits
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encoded by autosomal genes that are expressed differently in males and females.
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multifactoral traits
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Characteristics affected by many genes and environmental factors
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mitchondrial inheritance has what mode of inheritance
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cytoplasmic
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Sex-influenced characteristics are determined by what type of genes?
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autosomal
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What involves reversible changes to DNA that affect how genes are expressed.
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epigenetics
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pleiotropy
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one gene affects multiple characteristics.
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genetic maternal effect
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the phenotype of the offspring is directly determined by the genotype of the mother
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Which is a characteristic of cytoplasmically inherited traits?
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Reciprocal crosses give different results.
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genomic imprinting is a type of what?
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epigenetics
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what is it if transmitted from male to male?
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autosomal
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what is it if it is NOT transmitted from male to male?
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x-linked
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describe autosomal
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very rarely expressed in a pedigree and it can be transmitted from male to male
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mitchondrial inheritance
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never passed from father to offspring and have an infected mother. used to trace maternal lineage
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independent assortment happens at what stage?
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anaphase I
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what are 2 things effected by mitochondrial inheritance?
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muscle weakness
nervous system symptoms |
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what does independent assortment result in?
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recombinant gametes
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how are recombinant genes formed?
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crossing over of independent assortment
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distance btw bp
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.34 nm
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how many bp are in a turn?
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10 bp per turn
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cytogenetics
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subdiscipline in which scientists study chromosome structure and link variations of structure with specific traits or disorders.
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chromatin
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dna + associated proteins
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2 types of chromatin
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euchromatin- part that is relaxed
heterchromatin-includes centromere and telomeres |
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Euchromatin
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majority of chromosomal material
undergoes condensation and decondensation during cell cycle * where the genes are located* |
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heterochromatin
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never transcribed
"genetically inactive" |
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what holds nitrogenous bases together?
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hydrogen bonds
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what holds together the sugar phosphate backbone?
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phosodiester bonds
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What are the essential structures of chromosomes?
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origins of replication (to speed up process)
centromeres (segregation) telomeres (used for both segregation and replication) |
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what prevents attachment of other chromosomes?
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telomeres
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when are cells arrested?
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in metaphase
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chromosome nomenclature
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chromosome #, arm, band, sub band
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paralogs
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homologus genes within a single species
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translocation
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exchange of material occurs btw nonhomologous chromosomes.
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difference btw balanced and unbalanced translocations
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balanced-no loss of genetic material
nonbalanced-loss or gain of genetic material |
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robertsonian translocation
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breakage of acrocentric chromosome and leaving "sticky" ends
short arms are lost and a long metacentric chromosome forms |
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what is the purpose of a linkage map?
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determine recombination frequency and map distance
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centrosome
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repetitive blocks of DNA that facilitates binding of specific proteins
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histones
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dna's association with histones protected dna from degradation by nuclease and **act like a clamp**
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histone protein composition
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numerous lysine and arginine amino acid subunits
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what 2 diseases are caused from a deletion of chromosome 15?
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angelman and prader willi
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whats the difference btw angelman's and prader willi
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from mom= angelman's
from dad= prader willi |
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when does deletion of genomic imprinting occur?
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meiosis (forming of gametes)
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is robertsonian a balanced or imbalanced translocation and why?
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balanced bc no genetic material is lost
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edward syndrome
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trisomy 18
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aneuploid
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missing or gained chromosome
2n+1 |
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euploid
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gained an entire set of chromosomes
~1 extra chromosome for every set |
