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Genetics Exam 2
Chapters 5ab, 6, 7, 13
62
Biology
Undergraduate 4
02/24/2009

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Term
Concordance is a calculation of heritability in ____________
Definition
twins
Term
True or False: In studying the variation of a phenotype in a population, you notice that the distribution follows a bell-shaped curve. This suggests to you that this trait is most likely a polygenic trait.
Definition
True
Term
As a researcher, you wish to study individuals that shared a common environment growing up, but had different genetics. What kind of twins would you pick?
Definition
DZ twins
Term
The phenotypes of skin color and fingerprints are examples of _______.
Definition
multifactorial traits
Term
What equation describes a multifactorial trait?
Definition
Vt = Vg + Ve
Term
A polymorphism is a genetic difference that exists in at least _____ % of the population (enter a whole number
Definition
1
Term
True or False: In the study of medicine, there is a direct correlation between the color of a person's skin and their susceptibility to certain medicines.
Definition
false
Term
Alu polymorphisms have been used to study what?
Definition
The genetic basis of humans
Term
Coefficients of relatedness would be highest in what relationship pair?
Definition
parents-children
Term
How many Barr bodies would the cells of an XXX female contain?
Definition
2
Term
Transcription factors act as on/off switches for ____________.
Definition
Genes
Term
True or False: In sex-influenced inheritance, the phenotype of a heteroxygous male and a heterozygous female differ.
Definition
True
Term
In a x-linked recessive trait, males will receive the recessive allele from __________.
Definition
Their mothers
Term
True or False: The pseudoautosomal regions (PAR) of the X and Y chromosomes are what make them homologous, and allow them to pair up during meiosis.
Definition
True
Term
gene thats responsible for "counting" the number of X chromosomes?
Definition
Xic
Term
What sex determination systems is the female the heterogametic sex?
Definition
ZZ-ZW
Term
What code is a transcription factor that regulates male development?
Definition
SRY
Term
True or False: In humans, all of the genes needed for sexual development are located on either the X or Y chromosome.
Definition
false
Term
Methylation is involved in _____________.
Definition
Genomic Imprinting
Term
An epistatic interaction between two genes in an AaBb x AaBB cross that produces a 12:3:1 phenotypic ratio is an example of ________ epistasis.
Definition
Dominant
Term
An epistatic interaction between two genes in an CcDd x CcDd cross that produces a 9:3:4 phenotypic ratio in the offspring is an example of ________ epistasis.
Definition
Recessive
Term
In humans, mitocondria are inherited from which parent?
Definition
Female
Term
VNTRs, STRs and SNPs are examples of ____________.
Definition
genetic markers
Term
Haplotype analysis uses what as markers?
Definition
RFLP, STR, VNTR, SNP
Term
A haplotype analysis is used to ______________.
Definition
identify a region of a chromosome that is associated with a disease or trait
Term
A map unit is equal to __________.
Definition
1% recombination
Term
Name 3 syndromes that result from Imprinting?
Definition
ANGLEMAN SYNDROME (Chromosome 15, maternally imprinting, ubiquitin gene is deleted, small happy kids die at ten) , PRADER-WILLI syndrome (paternally inherited, obese kids) , and BECKWITH SYNDROME (paternally inherited, chromosome 11 is tumor suppressor, internal organs covered in tumors)
Term
what does FISH stand for?
Definition
Fluorescence In Situ Hybridization (makes chromosomes pretty)
Term
Formulas for Mendelian, Polygenic, Multifactorial
Definition
Mendelian: Vt = Vg
Polygenic: Vt= sum of Vg1+ Vg2 + Vg3....etc
Multifactorial: Vt = Ve + Vg
Term
Aneuplody
Definition
Cells w/ extra or missing chrmosomes.
2n+ 1 = trisomy
2n- 1 = monosomy
Term
[image]
Definition
This is a X-linked Recessive Trait
Term
A cross of two AaBb genotypes yields a phenotypic ratio of 12:3:1. What type of epistatic interaction is this?
Definition
Dominant
Term
A cross of two AaBb genotypes yields a phenotypic ratio of 9:3:4. What type of epistatic interaction is this?
Definition
Recessive
Term
Heteroplasmy is associated with____
Definition
mitochondrial inheritance
Term
haplotypes uses ______ as markers
Definition
SNPs and VNTRs
Term
In order for a genetic marker to be considered as linked to a gene of interest, the LOD score must exceed:
Definition
3
Term
In linkage mapping, 1 map unit is equal to
Definition
1% recombination
Term
the SRY gene encodes for_____
Definition
Transcription Factor
Term
During male development, remaining female reproductive structures are removed by the process of ____
Definition
apoptosis
Term
In an X-linked dominant trait, an affected male would produced:
Definition
100% affected female children
Term
What determines gender in humans?
Definition
the SRY region on the Y chromosome
Term
In the ZZ-ZW system, which sex is heterogametic?
Definition
Female
Term
The amount of phenotypic variability that is due to genetics is called _________
Definition
Heritability
Term
The formula Vt = Vg + Ve is an example of ______ trait.
Definition
multifactorial
Term
What type of twin removes Vg from the equation Vt = Vg + Ve?
Definition
MZ twins
Term
Single nucleotide polymorphisms (SNPs) are most often used _______
Definition
in association studies
Term
Population has a heritability value of 0.86 for a certain disease, while population B has a heritability value of 0.41. Which population has a greater genetic contribution?
Definition
Population A
Term
Term that assumes that there are multiple genes, but no environmental component
Definition
polygenic
Term
Trait that is most likely not multifactorial?
Definition
blood type
Term
True or False: methylation is a process by which chromosomes are inactivated
Definition
False
Term
formula that represents a karyotype that has an extra copy of chromosome 13?
Definition
2n + 1
Term
Syndrome that can be produced by both a translocation event and a aneuploid condition
Definition
Down
Term
What can you deduce from chromosome location 7q19.
Definition
It is on chromosome 7, it is on the long arm of chromosome, it is the ninth minor band of the first major band.
Term
Syndrome that can only be produced by a non-disjunction in a male
Definition
jacobs syndrome
Term
Common name for trisomy-13?
Definition
patau
Term
What is the correct notation for Turner syndrome?
Definition
XO
Term
True or False: A chromosome that is numbered 4 is larger than a chromosome that is numbered 9?
Definition
true
Term
True or false: the majority of the genes on a chromosome are contained in the heterochromatin areas of the chromosome
Definition
False
Term
Trisomy 18 disorder =
Definition
Edward Syndrome. massive heart problems. most infants die
Term
XXY =
Definition
klinfelter syndrome. small penises, long limbs and hands
Term
XYY=
Definition
Jacobs syndrome. Great height, acne, speech problems and reading disabilities
Term
Nondisjunction
Definition
-Common Cause of aneuploidy
-chromosomes not pulled apart correctly during anaphase.
-MEIOSIS 1 = copies of both homologs in 1 gamate
-MEIOSIS 2 = copies of both sister chromatids in 1 gamate
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