Ch. 2 Flashcards
What are the 6 diagnostic techniques in medical genetics?
family history | pedigree analysis | cytogenic studies | fluorescence in situ hybridization | DNA analysis | biochemical analysis
What is cytogenics?
study of chromosomes via light microscopy
What is a type of cytogenic test?
karyotype
What is karyotype?
chromosomes (during metaphase) rearranged and numbered in pairs from longest to shortest from 1 to 22 to = autosomes; sex chromosomes = bottom right
What is chromosome painting?
identify pairs of homologous chromosomes by hybridization with DNA strands labeled with fluorescent dyes
What is karyotype useful for?
determining abnormalities of chromosomal structure and arrangement
What is FISH useful for?
visualizing and mapping chromosomal gene abnormalities | can find chromosomal and locus location of a gene in question
How does FISH work?
make a nucleic acid sequence that matches target gene and label a fluorescent dye
What diagnostic technique is used to study the specific mutation of a gene?
polymerase chain reaction (PCR)
What is the primary goal of biochemical testing?
determine if certain proteins are present or absent | identify characteristics, effectiveness and defects of protein
What is a diagnostic test to determine if a certain protein is present or absent?
protein gel electrophoresis
