week 1 Walden 6501 advanced
pathophysiology
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.
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
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
pathophysiology
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.
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
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
