MB ASCP Ch 13 Molecular Detection of Inherited Diseases Estimatics Exam.

MB ASCP Ch 13 Molecular Detection of Inherited Diseases Estimatics En polymorphisms -ANSWER mutations useful for mapping, determining parentage balanced polymorphisms -ANSWER just a DNA sequence difference, the phenotypic effect of which is counteracted by a second trait or polymorphism methylation -ANSWER usually cytosine in CpG islands, shuts down RNA transcription by adding methyl groups genomic impringing -ANSWER enzymatic addition of methyl groups to specific nitrogen bases in a predicted pattern, selectively inactivates gene expression - ex: X chromosome inactivation chromosome remodeling -ANSWER sequesters large regions via protein binding and histone modification, controls the availability of DNA congenital -ANSWER aka you are born with the disease, genetic but not necessarily inherited genome mutations -ANSWER this is an abnormality in chromosome numbers, detected by karyotyping, FISH, or flow cyto polyploidy -ANSWER having more than one of any autosome, may result in infertility and abnormal appearance aneuploidy -ANSWER the gain or loss of any autosome, caused by erroneous separation of chromosomes during egg/sperm production, causes 50% of spontaneous abortions autosomal trisomy/monosomy -ANSWER these conditions results from fertilization of gametes containing an extra/missing a chromosome turners syndrome -ANSWER somatic monosomy X0 mosaicism -ANSWER having genetically different cellular components arising from the same zygote, from early segregation errors chimerism -ANSWER an individual having cells or tissues from two different zygotes