Genetics Terms

Genetics Terms - Term Definition SNP Single Nucleotide...

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Term: SNP Definition: Single Nucleotide Polymorphism. Disease allele in individuals from same ethnic group associated with characteristic SNPs. Term: Frequency of Cytogenetic Disorders Definition: 50% spontaneous abortions and .5% congenital malformations due to abnormal chromosomes. Most babies not even born though Term: Cytogenetic Analysis Requirements Definition: Need cells in mitosis which are growing and dividing. Treat cells with spindle inhibitor colchicine to prevent separation of chromatids then hypotonic solution to cause cell swelling. Finally stain cells Term: Where can you do cytogenetic analysis? Definition: peripheral blood is easiest, skin biopsy, bone marrow, amniotic fluid, placenta, tumor cells
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Term: Ways to have genetic disorders Definition: Single gene, chromosomal (extra, missing, rearrangement), or multifactorial (environment and genes, inherit susceptibility) Term: Why use skin culture for cytogenetic testing? Definition: Use it for autopsy since skin can be cultured longer post death than blood or in rare cases where blood cant be cultured or if abnormality is online in the skin (mosaicism) Term: Chromosome Banding Definition: light and dark regions on chromosome after staining with a dye Term: G-Banding Definition: Treatment with proteolytic enzyme like trypsin followed by staining with Giemsa which will bind the DNA
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Term: Important Features of Chromosomes Definition: 1. Centromere: constriction region where spindle fibers attach and heterochromatin that is on either side of which stains darker 2. Telomere: at the end of each chromosome arm, repeated sequence but not distinguishable at microscopic lvl Term: Centromere types Definition: Metacentric = middle; Submetacentric = closer to one end; acrocentric = at one end. All divide chromosome to short arm (p) and long arm (q). Numbering begins at center of centromere Term: Acrocentric Chromosomes Definition: Short arm contain genes for 18S and 28S rRNA, many copies of them, no clinical consequences is missing (chromosomes 13, 14, 15, 21, 22, Y) Term: What do del, i, inv, t, ins, dup, der mean ? Definition: deletion, isochromosome, inversion, translocation, insertion, duplication, derivative
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Term: FISH Definition: Flourescence in situ hybridization- permits determination of number and location of specific DNA sequences in human cells, requires molecular probe and denatured chromosomes (high temp treatment) Term: Issues with standard cytogenetic analysis Definition: only permits diagnosis of numerical and structural analysis, small deletions not seen, novel banding patterns hard to interpret, need dividing cells (which may not be representative of whole population) Term: Issues with FISH Definition: Have to know what you are looking for and choose correct probes Term: Array Cytogenetic analysis Definition: increased resolution, look at much of genome in one experiment. Types: comparative genomic hybridization and SNP array analysis
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Term: Issues with Array based analysis Definition: there are copy number polymorphisms (deletions and duplications) in healthy people and need to know which are
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