week 1 Walden 6501 advanced pathophysiology questions with solutions 2024

week 1 Walden 6501 advanced pathophysiology questions with solutions 2024 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.