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PCOL 838 Final Exam With Questions And 100% CORRECT ANSWERS
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JACKLINEPCOL 838 Final Exam With Questions And 100% CORRECT ANSWERS
Terms in this set (280)
acrocentric Refers to the terminal location of the centromere on chromosomes 13, 14, 15, 21 and 22
the situation in which multiple alleles at a singe locus can produce one or more disease
allelic heterogeneity
phenotypes
Refers to mutations that cause a complete loss of function for the respective gene, and
amorphic
therefore yield the same phenotype as a complete gene deletion
Aneuploidy denotes any unbalanced chromosome complement
Refers to mutations that when present in heterozygous form opposite a nonmutant allele will
antimorphic
result in a phenotype similar to homozygosity for loss-of-function alleles
The situation in which individuals or families in a genetic study are not representative of the
ascertainment bias
general population because of the way in which they are identified.
autosomal Located on chromosomes 1-22 rather than X or Y
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the end of prophase during female meiosis I in which fetal oocytes are arrested prior to
dicytotene
ovulation
a pattern of inheritance or mechanism of gene action in which the effects of a variant allele
dominant
can be observed in the presence of a non mutant allele
A type of pathofphysiologic mechanism that occurs when a mutant allele interferes with the
dominant negative
normal function of the nonmutant gene product
Mechanism by which a difference in gene dosage between two cells is equalized. For XX cells
dosage compensation in mammals, decreased expression from one of the two X chromosomes results in a
concentration of gene product similar to an XY cell.
A pathologic mechanism in which absence or reduction in the product of a particular
End-product deficiency
enzymatic reaction leads to disease.
refers to a phenotypic effect that is heritable, through somatic cell division and/or across
organismal generations, but that does not depend on variations in DNA sequence. Instead,
Epigenetics
epigenetic inheritance is associated with alterations in chromatin structure such as DNA
methylation or histone modification that can be transmitted during cell division
extent to which a mutant genotype affects phenotype, including the tissues that are affected
Expressivity
and the severity of those effects
fitness effect of a mutant allele on an individual's ability to reproduce
high frequency of a deleterious gene in a population. if the population was founded by a small
founder effect ancestral group, it may have, by chance, contained a large number of carriers for a deleterious
gene
the egg or sperm cell that represents a potential reproductive contribution to the next
gamete generation. gametes have undergone meiosis and so contain half the normal number of
chromosomes found in zygotic cells
The principle that the amount of product expressed for a particular gene is proportionate to
gene dosage
the number of gene copies present per cell.
Genetic disease has earlier onset and increased severity with each succeeding generation.
genetic anticipation
possibly from ascertainment bias or multistep mutational mechanism such as triplet repeats
Haplotype A set of closely linked DNA sequence variants on a single chromosome.
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