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Genetics exam #1

Chapters 1-5

One gene affects multiple characteristics. Pleiotropy
when the phenotype of the heterozygote differs from the phenotypes of both homozygotes Incomplete dominance
In the heterozygous condition, only one allele (dominant) is expressed. Mendelian concept
Heterozygote expresses both alleles/both phenotypes. Codominance
Phenotype of the heterozygote is the same as the phenotype of one of the homozygotes. Complete dominance
Genotype does not always produce expected phenotype. Incomplete penetrance
Autosomal dominant allele. Individuals with dominant allele can ocassionaly have normal # of digits, but have affected children. Polydactyly
% of individuals having a particular genotype that actually express the associated phenotype. Penetrance
The degree to which a trait is expressed in an individual. Variable expressivity
May be transmitted to progeny when the trait isn't expressed until later in life. Need to be homozygous. Lethal alleles
One gene may have more than 2 possible alleles. (ABO Blood Type) Multiple alleles
More than one gene contributes to a single phenotype. Gene interaction
One gene masks the effects of another gene. Can be dominant or recessive. (Albinism) Epistasis
Test to determine whether two different mustations are at the same locus or different loci. Cross homozygous individuals with different mutations. Complementation test
All F1 will have a mutant phenotype. If same locus
F1 will have wild type phenotype. If differnt loci
Not X-linked. dominant in male; recessive in females. Difference due to presence of male sex hormones. Sex influenced traits
Autosomal inheritance. Traits is only expressed in one sex. Sex-limited traits
Inheritance of DNA in cytoplasm. Inherited from mother only. Characteristics exhibit extensive phenotypic variation. Cytoplasmic inheritance
Genotype inherited from both parents but phenotype is determoned by mothers genotyope. Genetic maternal effect
Differential expression of gene depending of whether it was inherited from mother or father/ Genomic Printing
Genetic trait becomes either more stongly expressed or expressed at an earlier age as it is passed from generation to genra Anticipation
Environmental factors p[roduce a phenotype that mimics the phenotype of another genotype. Phenocopy
Few distinct phenotypes Inheritance of discontinuos characteristics
wide range of phenotypes Inheritance of continuos characteristics
In sexually reproducing organisms,there is usually two distinct sexes (males and females) Sex determination
Different btw sexes sex chromosomes
any non-sex chromosomes Autosomes
Sex determination in grasshopper XX-XO XX=female XO-male
All gametes contain the same type of sex chromosome. always passing an X chromosome to their offspring. Homogametic
Two different types of gametes in regard to sex chromosomes (X or none cause O is not a sex chromosome). Heterogametic
Sex determination in mammals. XX-XY XX=female Xy=male
Small region of both X and Y chromosomes carry same genes.Allow for homologous pairing during meiosis. Pseudoautosomal Region
Sex determination of birds/reptiles ZZ-ZW ZZ-male ZW-female
Females are diploid:produce egss by meiosis Males are haploid:produce eggs by mitosis Haploidiploidy
No difference in chromosomes btw sexes. Sex is determined by genotype at one or more gene loci. Genic sex determination
Detrmined by genes and happen to be on sex chromosomes Chromosomal sex determination
Sex determination in Drosophila 8 chromosomes ( 3 pairs of autosomes and one pair of sex chromosomes. female=1.0 male=0.5
Abnormal segregation of chromosomes during meiosis I and II Nondisjunction
45,XO Short stature, broad chest, low hairline on neck. Turner sundrome
47,XXY Klinefelter syndrome
47,XXX Poly X females
47 XYY Jacob syndrome
Gonads are undifferentiated and have both male and female reproductive ducts. male determining gene in humans
sex determining region on Y chromosome. Develops neutral gonads into testes. In the absence, gonads develop into ovaries and male ducts degenerate. Phenotype is female. menstruation does not occur. No internal reproductive organs. Karyotype is male. SRY gene
A random X is inactivated in each cell. Only one X is kept active. Barr body
Y linked gene. All males are affected within family; mo affected females. Holandric inheritance
Is only expressed on inactive X. Produces RNA molecule that coats chromosome. Some genes on 'inactive' X are kept active. Xist (x inactivation specific transcript)
inherited factor that codes for a specific characteristic. Gene
Physical location of a gene on a chromosome. Locus
Alternate forms of a gene. (what specifically the gene codes for). Ex: black hair, blond hair. Allele
The combination of alleles in an individual; its genetic makeup. (Homozygous and Heterozygous). Brown eye allele and blue eye allele is Bb. Genotype
Observable characteristics. Bb is brown eyes. Phenotype
All offsprings have the same traits. True-breeding
A cross where one gene locus is tracked. Ex: Aa*Aa Monohybrid cross
A cross where two different traits are examined at the same time. Ex: AaBb*AaBb Dihybrid cross
Sex of parent with trait made no difference. Reciprocal cross
Each diploid organism has 2 alleles for each gene. Alleles segregate from each other randomly in gamete formation. Principle of Segregation.
Probability of 2 or more independent events occurring together. "AND" Multiplication rule
Probability of having 2 or more mutually exclusive events occur together. "Either/Or" Addition rule
Two copies of an abnormal gene must be present in order for the disease or trait to develop. Ex: Albinism Autosomal recessive disorder
Term #=n+1 First term has a^n, second term a^(n-1)b (a always loses 1; b gains 1) For coefficient 1st term=1, 2nd term=same power as binomial, 3rd term= multiply preceding coefficient by exponent of a in the 2nd term, then divide by term #. Binomial Expansion
Determination of genotype of a dominant phenotype individual. Cross of unknown dominant with recessive individual. Test cross
Indicates probability that deviation btw observed and expected ratio is due to chance alone. Chi-square test
Offspring are mix of parental traits. Once blended, the trait can not be separated back into individual. Blended inheritance
Before nucleus. Unicellular, no internal membranes, eubacteria, archaea, circular chromosomes. Binary fission Prokaryotic
True nucleus, unicellular or multicellular, have internal membranes, linear chromosomes, Chromatin. Eukaryotic
Centromere, Telomere, Origin of replication 3 components of a functional chromosome
2 identical copies of DNA sister chromatids
Protein complex attached Kinetochore
has 2 copies of each chromosome Diploid cell
has one copy of each chromosome Haploid cell
Humans do not have these chromosomes Telocentric
That portion of the cell cycle between cell divisions in which the cell grows, performs its required functions and duplicates DNA and important organelles in preparation for cell division Interphase
First phase of interphase in which the cell is growing G1 Phase of Interphase
Second phase of interphase in which DNA is replicated S Phase of Interphase
Last phase of interphase in which cell organelles are duplicated in preparation for cell division G2 Phase of Interphase
The first stage of cell division in which the nucleus divides. Mitosis results in the formation of two daughter cells with exactly the same genetic information as the parent cell. Mitosis results in the production of two identical diploid cells. mitosis
The first division of Mitosis in which the chromosomes become visible. The nuclear membrane begins to dissolve. Prophase
The second stage of mitosis in which the chromosomes line up along the middle of the cell. Metaphase
The third stage of mitosis in which the sister chromatids are separated and one of each is pulled to each end of the cell Anaphase
The final stage of mitosis in whcih the chromosomes begin to disperse, the nuclear envelope re-forms around each cluster of chromosomes and the cell is ready for cytokinesis. Telophase
The second stage of cell division in which the cytoplasm divides and two daughter cells are formed (asexual reproduction). Cytokinesis
The process of cell division in which the chromosome number per cell is cut in half to form sex cells. This results in four haploid cells. Meiosis
Interphase, Mitosis, Cytokinesis Steps of the Cell cycle
Fusion of egg and sperm to restore diploid condition. Sexual reproduction. Fertilization
As homologous chromosomes pair up and form tetrads in meiosis I, they exchange portions of their chromatid. This results in the exchange of alleles between homologous chromosomes and produces new combinations of alleles Crossing over
The attachment site for the two sister chromatids. Centromere
Cell organelles that help organize spindle fibers for the separation of chromosomes during mitosis Centrioles
1.5. nuclear envelope fragments, microtubles extend to middle of cell, kinetochores appear Prometaphase
Shuffles maternal and paternal chromosomes in different combinations. Metaphase I Random assortment
Cohesin hold together sister chromatids. Separation during Mitosis
Cohesin aids in formation of synaptonemal complex. Separation during Meiosis
2 cells, each containing half the # of chromosomes Result of meiosis I
4 cells, each containing half the original # of chromosomes Result of meiosis II
in dihybrid cross if two heterozygotes are crossed 9:3:3:1 phenotype
in incomplete dominance if heterozygotes are crossed we get 1:2:1 phenotype
in a monohybrid cross if two heterozygotes are crossed 1:2:1 genotype 3:1 phenotype
in a dihybrid cross, how many possible combinations occur in the F2 progeny? 16
what is the ratio when crossing a homozygous recessive with a heterozygote? 1:1
what term means the first generation produced in a series of crosses? F1
what term means the second generation produced in a series of crosses? F2
Why did the F1 offspring of Mendel's classic pea cross always look like one of the two parental varieties? One phenotype was completely dominant over another.
Black fur in mice (B) is dominant to brown fur (b). Short tails (T) are dominant to long tails (t). What fraction of the progeny of crosses BbTt × BBtt will be expected to have black fur and long tails? 9/16
In certain plants, tall is dominant to short. If a heterozygous plant is crossed with a homozygous tall plant, what is the probability that the offspring will be short? 0
In the cross AaBbCc × AaBbCc, what is the probability of producing the genotype AABBCC? 1/64
Given the parents AABBCc × AabbCc, assume simple dominance for each trait and independent assortment. What proportion of the progeny will be expected to phenotypically resemble the first parent? 3/4
Colorblindness in humans, More common in males than females. X-linked recessive trait
It means you only need to get the abnormal gene from one parent in order for you to inherit the disease Autosomal dominant trait
Created by: nenatweet24
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