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Causes of chromosomal aberrations - errors in chromosome segregation (causes whole chromosome aneuploidy) and/or DNA damage repair (causes structural variation) Anneal - the ability of two complementary nucleic acids to align in an opposing orientation to allow the nucleotide bases of one strand...

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  • August 20, 2024
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  • 2024/2025
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HMX Genetics- ALL
Causes of chromosomal aberrations - errors in chromosome segregation (causes whole
chromosome aneuploidy) and/or DNA damage repair (causes structural variation)



Anneal - the ability of two complementary nucleic acids to align in an opposing orientation to
allow the nucleotide bases of one strand to form hydrogen bonds with the nucleotide bases of the
complementary strand; used in microarrays to bind DNA and show fluorescence



Absolute risk - A person's chances of developing a disease or disorder independent of any risk that
other people may have for that disease or disorder



Alignment - the position of data within a cell; how DNA is organized for genome sequencing



Alleles - different versions of a gene



Amino acid - coded 5' to 3' (N terminus to C terminus)



Ancestry - family descent; can be traced through autosomal DNA or y chromosome/mitochondrial
DNA for paternal/maternal lineage



Aneuploidy - deviation from the normal number of chromosomes by less than a full set



Autosomal - traits that are caused by genes found on the 22 regular chromosomes (not sex
chromosomes)



Balanced translocation - a translocation, such as a reciprocal translocation, in which the total
amount of genetic material is normal or nearly normal, just rearranged



Benign variant - a genetic variant least likely to cause disease (found during genetic sequencing)

, Cancer - a collection of diseases characterized by uncontrolled cell growth; cancer cells can divide
rapidly, evade protective mechanisms that kill abnormal cells, and metastasize



Carcinogen - A cancer-causing substance



Carrier - A person whose genotype includes a gene that is not expressed in the phenotype.



Carrier risk - the risk of passing on a trait, based on the genes of the person concerned and/or
their partner



Cas9 Protein - nuclease used in CRISPR to cut certain sequences of DNA (guide RNA finds the
sequence first)



Central dogma - describes the flow of information from DNA (genotype) to RNA (portable) to
protein (phenotype) via transcription and translation



Centromeres - Area where the chromatids of a chromosome are attached



Clone - An organism that is genetically identical to the organism from which it was produced



Codon - A specific sequence of three adjacent bases on a strand of DNA or RNA that provides
genetic code information for a particular amino acid



Cohort - a group of people being tested all at once (a population)



Common complex traits - traits caused by mutations that are common but don't necessarily mean
you're affected (small effect size)

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