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Multigene Trait
more than 1 gene specifying a given phenotype
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Pleiotrophy
the production by one particular mutant gene, of apparently unrelated multiple effects at the phenotopic level
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Complete Dominance
Aa = AA
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Incomplete (semi-) dominance
AA>Aa>aa
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Co-Dominance
- •alleles
- not mutually related in terms of dominance-recessivity.
- Instead, their gene products occur
- independently, and both are manifest phenotypically.
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Penetrance
- The frequency (in percent) with which a (dominant or homozygous recessive) gene or gene combination manifests itself in the phenotype of the carriers.
- It is complete when:
- homozygous recessives show one phenotype.
- homozygous dominants show another phenotype.
- All the heterozygotes are alike.
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Expressivity
the degree of expression of a gene or mutation
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Epistasis
a form of gene interaction whereby one gene (A) interferes with the phenotypic expression of another non allelic gene (B).
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Complementation
the production of a wild-type phenotype when two haploid genomes bearing different recessive mutations are united in the same cell.
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Complementation analysis
Determination of whether cells with the same phenotype have the same genotype.
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Complementation group
the members of such a group fail to complement one another, and they functionally define a “gene”
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conditional mutant
- a mutant whose viability is dependent on a set of (permissive) conditions
- ex: auxotrophs, temperature-sensitive
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pedigree
a list of ancestry or genealogical register
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autosomal dominant
females and males are equally likely to be affected
on average, half the individuals in sibships with an affected parent are affected
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Centromere
the region of each chromosome with which the spindle fibers become associated during mitosis and meiosis
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Karyotype
the particular chromosome complement of an individual or of a related group of individuals, defined both by the number and morphology of the chromosomes
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Aneuploidy
having one or more whole chromosomes or chromosome segments absent form or in addition to the basic chromosome complement
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polyploids
contain three or more chromosome sets
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Are polyploids euploid?
YES
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Autopolyploid
>2 monoploid chromosomes sets
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Causes of genome duplication
- Meiotic non-reduction of gametes
- and
- genome duplication w/o cytokinesis (after fertilization)
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autopolyploids
fertility disturbances due to unbalanced meiosis (specially in odd-numbered autopolyploids)
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allopolyploids
- contain structurally and genetically different chromosome sets
- allopolyploidy arises from hybridization, plus genome duplication
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monoploids
a single chromosome set that is repeated in polyploids
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haploid
the chromosome complement of the gametes of a species
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Deletions
- chromosomal segments are missing
- even small deletions are homozygous lethal
- large ones are even heterozygous lethal
- deletion of a locus uncovers a recessive mutation when they pair with a "full-length" chromosome carrying the recessive allele at the locus
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duplication
a chromosomal structural change resulting in the doubling of a section of the genome
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intra=chromosomal duplications
- the duplicated segments are contained within a single chromosome
- tandem (contiguous) duplications
- non-contiguous duplications
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inter-chromosomal duplications
the duplicated segment is incorporated into a non-homologous chromosome
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paracentric inversion
does not include the centromere
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pericentric inversion
includes the centromere
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chromosome translocation
- change in the position of chromosome segments within the chromosome complement
- it can be intra-chromosomal.... but it usually involves intergchange of parts between non-homologous chromosomes
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reciprocal translocation
- (symmetrical)
- asymmetrical
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non reciprocal translocation
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terminal translocations (at the telomere are not possible)
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Robertsonian translocations
non-homologous chromosome fusion at their centromeres
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compound chromosomes
any monocentric chromosome in which the material from one chromosome arm is represented twice
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acrocentric
- two arms may join
- by attachement of the base of one to the terminus of there other to form
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metacentic
by attachment of both proximally to a single centromere.
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the ends of compound chromosomes may join to form a ring chromosome
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heterozygous symmetrical reciprocal translocations
- the four chromosomes share partial homology, but no two are identical
- they are characterized by a cross configuration of the paired chromosomes in meiosis
- they cause semi sterility
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Adjacent segregation
segregation of a heterozygous reciprocal translocation in which a translocated chromosome and a normal chromosome, segregate together, producing an aneuploid gamete.
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adjacent 1
homologous centromeres go to opposite poles (they disjoin as usual)
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adjacent 2
homologous centromeres go to the same pole (non disjuction)
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alterate segreagation
- neighboring chromosomes will not go to the same pole
- all the gametes are euploid and half are carriers for the translocation
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