Exam (elaborations)
HMX Genetics- ALL Questions and and answers.
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- Human Genetics And Personalized Medicine
HMX Genetics- ALL Questions and and answers.
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HMX Genetics- ALLAbsolute risk - correct answer-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 - correct answer-the position of data within a cell; how DNA is organized for
genome sequencing
Alleles - correct answer-different versions of a gene
Amino acid - correct answer-coded 5' to 3' (N terminus to C terminus)
Ancestry - correct answer-family descent; can be traced through autosomal DNA or y
chromosome/mitochondrial DNA for paternal/maternal lineage
Aneuploidy - correct answer-deviation from the normal number of chromosomes by less than
a full set
Anneal - correct answer-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
Autosomal - correct answer-traits that are caused by genes found on the 22 regular
chromosomes (not sex chromosomes)
Balanced translocation - correct answer-a translocation, such as a reciprocal translocation,
in which the total amount of genetic material is normal or nearly normal, just rearranged
Benign variant - correct answer-a genetic variant least likely to cause disease (found during
genetic sequencing)
Cancer - correct answer-a collection of diseases characterized by uncontrolled cell growth;
cancer cells can divide rapidly, evade protective mechanisms that kill abnormal cells, and
metastasize
Carcinogen - correct answer-A cancer-causing substance
Carrier - correct answer-A person whose genotype includes a gene that is not expressed in
the phenotype.
Carrier risk - correct answer-the risk of passing on a trait, based on the genes of the person
concerned and/or their partner
Cas9 Protein - correct answer-nuclease used in CRISPR to cut certain sequences of DNA
(guide RNA finds the sequence first)
, Causes of chromosomal aberrations - correct answer-errors in chromosome segregation
(causes whole chromosome aneuploidy) and/or DNA damage repair (causes structural
variation)
Central dogma - correct answer-describes the flow of information from DNA (genotype) to
RNA (portable) to protein (phenotype) via transcription and translation
Centromeres - correct answer-Area where the chromatids of a chromosome are attached
Clone - correct answer-An organism that is genetically identical to the organism from which it
was produced
Codon - correct answer-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 - correct answer-a group of people being tested all at once (a population)
Common complex traits - correct answer-traits caused by mutations that are common but
don't necessarily mean you're affected (small effect size)
Copy number variant (CNV) - correct answer-A specific type of structural variant due to
insertions or deletions (indels) greater than 1 kb in length; DNA is gained or lost
CRISPR - correct answer-Clustered Regularly Interspaced Short Palindromic Repeats; the
leading approach to genomic editing
Deletion - correct answer-A change to a chromosome in which a fragment of the
chromosome is removed.
Difference between genotype and haplotype - correct answer-A genotype provides
information about the identity of variants, while a haplotype describes how variants are
grouped onto chromosomes
Diploid - correct answer-2n; containing two complete sets of chromosomes, one from each
parent (46 in humans)
Diversity - correct answer-the number of different haplotypes in a population
DNA - correct answer-is usually right-handed with 10 bp/turn
DNA damage repair genes - correct answer-proteins that scan DNA for damage and repair
that damage (don't work as well/are mutated in cancerous cells)
Dominant - correct answer-traits which require only one copy of an allele to manifest
phenotypically
Driver mutations - correct answer-Mutations that contribute to the development of cancer
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