Walden 6501 advanced pathophysiology Exam 2022(Actual test verified A+)

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.