WEEK 1 Walden 6501 advanced pathophysiology
(genetics, cellular biology and tissue) Answered Correctly!!
acrocentric
refers to the terminal location of centromere on chromosomes 13, 14, 15, 21, and 22
allelic heterogeneity
the situation in which multiple alleles at a single locus can produce one or more disease
phenotypes.
amorphic
refers ro mutations that cause a complete loss of function for the respective gene, and
therefore yield the same phenotype as a complete gene deletion.
aneuploidy
a general term used to denote any unbalanced chromosome complement
antimorphic
refers to mutations that when present in heterozygous form opposite a nonmutant allele
will result in a phenotype similar to homozygous for loss of function alleles.
ascertainment bias
the situation in which individuals or families in a genetic study are not representative of
the general population because of the way in which they are identified
autosomal
located on chromosomes 1-22 rather than x or y
CpG island
a segment of DNA that contains a relatively high density of 5' - CG-3' dinucleotides.
Such segments are frequently unmethylated and located close to ubiquitously
expressed genes.
dictyotene
the end of prophase during female meiosis I in which fetal oocytes are arrested prior to
ovulation.
dominant
a pattern of inheritance or mechanism of gene action in which the effects of a variant
allele can be observed in the presence of a nonmutant allele.
dominant negative
a type of pathophysiologic mechanism that occurs when a mutant allele interferes with
the normal function of the nonmutant gene product.
dosage compensation
mechanismby which a difference in gene dosage between two cells is equalized. For
XX cells in mammals, decreased expression from one of the two X chromosomes
results in a concentration of gene product similar to am XY cell.
End-product deficiency
a pathologic mechanism in which absence or reduction in the product of a particular
enzymatic reaction leads to disease.
epigenetic
refers to a phenotypic effect that is heritable, through somatic cell division and/or across
organisms generations, but that does not depend on variation in DNA sequence.
(genetics, cellular biology and tissue) Answered Correctly!!
acrocentric
refers to the terminal location of centromere on chromosomes 13, 14, 15, 21, and 22
allelic heterogeneity
the situation in which multiple alleles at a single locus can produce one or more disease
phenotypes.
amorphic
refers ro mutations that cause a complete loss of function for the respective gene, and
therefore yield the same phenotype as a complete gene deletion.
aneuploidy
a general term used to denote any unbalanced chromosome complement
antimorphic
refers to mutations that when present in heterozygous form opposite a nonmutant allele
will result in a phenotype similar to homozygous for loss of function alleles.
ascertainment bias
the situation in which individuals or families in a genetic study are not representative of
the general population because of the way in which they are identified
autosomal
located on chromosomes 1-22 rather than x or y
CpG island
a segment of DNA that contains a relatively high density of 5' - CG-3' dinucleotides.
Such segments are frequently unmethylated and located close to ubiquitously
expressed genes.
dictyotene
the end of prophase during female meiosis I in which fetal oocytes are arrested prior to
ovulation.
dominant
a pattern of inheritance or mechanism of gene action in which the effects of a variant
allele can be observed in the presence of a nonmutant allele.
dominant negative
a type of pathophysiologic mechanism that occurs when a mutant allele interferes with
the normal function of the nonmutant gene product.
dosage compensation
mechanismby which a difference in gene dosage between two cells is equalized. For
XX cells in mammals, decreased expression from one of the two X chromosomes
results in a concentration of gene product similar to am XY cell.
End-product deficiency
a pathologic mechanism in which absence or reduction in the product of a particular
enzymatic reaction leads to disease.
epigenetic
refers to a phenotypic effect that is heritable, through somatic cell division and/or across
organisms generations, but that does not depend on variation in DNA sequence.
