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59 Cards in this Set
- Front
- Back
allelic heterogeneity
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different mutations at the same locus
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allelic series
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when different allels at the same locus produce different phenotypes
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autosomal dominant
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When heterozygote shows dominant trait. Seen in every generation, equally between male and female (50%)
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autosomal recessive
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When heterozygote does not show recessive trait. Only seen in homozygous state. Not in every generation, equally between males and females.
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compound heterozygote
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two allels at same locus, both containing mutations. (a1a2) aka heteroallelic
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digenic inheritance
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phenotype requiring mutant genes at two loci
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dominant gain of function
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mutation which produces a new function or increased function of product
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dominant loss of function
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mutation which produces a 50% loss of function AA-->Aa
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dominant negative allele
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mutation in which the product interferes with normal production thus reducing function by >50%
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genetic heterogeneity
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similar phenotypes caused by different mutant genes
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Heteroallelic
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compound heterozygous
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Homo allelic
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when both allels are the same (homozygous)
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incomplete dominance
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when neither allel is dominant but rather phenotype is an intermediate
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locus heterogeneity
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mutations in two genes at different loci which may produce a similar phenotype
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modifying genes
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when the product of a non allelic gene alters the expression of the phenotype associated with a particular gene (or mutation of that gene)
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mosaicism
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Variable phenotypic expression (chimeric expression) on the cellular level (X inactivation)
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Penetrance
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When a particular gene (mutation) does not always produce a phenotype (the probability that a mutation will show the mutant phenotype)
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pleiotrophy
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when one gene has consequences on many phenotypes
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pseudoautosomal
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regions on x and y c/some that are homologous
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variable expression
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degree to which a phenotype is expressed
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euchromatin
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uncondensed regions of c/somes can be transcriptionally active
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heterochromatin
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condensed regions of c/somes
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conserved noncoding sequences (cNCS)
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areas of genome that are more conserved than would be expected by random mutation (total 5%, about 1.5% protein coding other 3.5% unknown)
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copy number variation (CNV)
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segments of the genome that are duplicated or deleted.
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gene desserts
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regions of genome devoid of genes-usually repetative sequences and heterochromatin
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homolog
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genes which share a common ancestor
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ortholog
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similar gene (w/ similar function) between species
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paralog
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homologous genes within an organism that belong to the same family but serve different functions
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genomic disorders
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problems/diseases which result from mutations in geneome
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haplotype
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the genotype of a set of markers linked together on a segment of the same c/some
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haplotype block
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the haplotype (group of genes) which is usually inherited as a unit
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linkage disequilibrium
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the condition in which the haplotype frequencies in a population deviate from the values they would have if the genes at each locus were combined at random
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Low copy repeats (LCR)
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region specific segmental duplication that occurs at more than one site in the genome and share >90% identity
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LINES
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Long (~6 kb) interspersed nucelear elements (created by insertions of transposable elements)
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SINES
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Short (~300 bp) interspersed nuclear elements (created by insertions of transposable elements)
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Single nucleotide polymorphism (SNP)
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Change in basepair sequence
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Syntenic
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genes on a contiguous piece of DNA-typically in a specific order
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Association Studies
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compare the frequency of an allele in a population of affected individuals with the frequency of that allele in a population of unaffected individuals
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complex traits
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a phenotype that results from the interplay of multiple genes and the environment
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genetic markers
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sequences of the genome which can be inherited with particular genes. These serve to locate genes associated with a phenotype.
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genomic profiling
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the detection of gene variants associated with a greater risk for a particular disease
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Relative risk (lambda)
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the recurrence risk for a relative of an affected person compared to the risk for a person from the general pop.
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linkage analysis
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using markers that co-segragate with a phenotype, it is possible to find the gene associated with that phenotype
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Short Tandem repeat polymorphism (STRP)
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Short (200 bp) of tandem repeats of a simple 1-4 bp DNA sequence (aka microsatellites) can be used as markers
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Susceptibility genes
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makes an individual prone to a disease, but is not sufficient to cause a diseased phenotype
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Transmission disequilibrium test (TDT)
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Comparing parents and affected offspring, the susceptibility allele (or marker) will be transmitted to offspring more often than the expected 1/2
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polygenic inheritence
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variant alleles for multiple genes contribute to a particular phenotype
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phenocopy
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when a phenotype is expressed for reasons unrelated to those with a specific genetic mutation (ie a person has disease X because of mutation in gene A but another person has disease X but is normal in gene A)
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anticipation
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apparent tendency of certain phenotypes to be increasingly severe in successive generations (premutation)
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heterodisomy
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A specific case of uniparental disomy when the pair results from inheritence of both homologs from one parent
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heteroplasmic
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when a cell contains a mixture of mutant and normal mtDNA
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homoplasmic
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when a cell contains only normal mtDNA
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imprinting
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a case of stable transcriptional repression in which the silenced allele is determined by the parent of origin
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isodisomy
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A specific case of uniparental disomy when the pair results from duplication of the same c/some
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loss of imprinting (LOI)
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When silenced gene is lost by malignant transformation making both genes active
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parent of origin
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one parental allele may be preferentially expressed
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epigenetics
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"above" genetics-mitotically/meiotically heritable changes in gene expression not coded in DNA sequence
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uniparental dismoy
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when both members of a c/some pair are inherited from a single parent
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Mosaicism
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The presence of at least two cell ines derived from a single zygte but differeing in genotype and/or karyotype
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