FOUNDATIONS OF CLINICAL MEDICINE - EXAM 1 LATESDT UPDATE
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Course
Clinical
Institution
Clinical
FOUNDATIONS OF CLINICAL MEDICINE - EXAM 1 LATESDT UPDATE
Gene
A DNA segment that codes for a protein
Phenotype
An organism's physical appearance or visible traits
DNA
A double-stranded molecule that carries the genetic information of an organism
RNA
A single-stranded molecule that tr...
FOUNDATIONS OF CLINICAL MEDICINE - EXAM 1
LATESDT UPDATE
Gene
A DNA segment that codes for a protein
Phenotype
An organism's physical appearance or visible traits
DNA
A double-stranded molecule that carries the genetic information of an organism
RNA
A single-stranded molecule that translates genetic information from DNA into proteins
Codon
A three-nucleotide sequence on mRNA that codes for a specific amino acid; may signal
start or stop of protein synthesis
Exons
Coding sequences that remain during RNA processing and are transcribed and
translated into proteins
Introns
Non-coding sequences removed during RNA processing; are not expressed
Karyotyping
Technique used to examine chromosomes in a cell sample to detect genetic
abnormalities and determine chromosomal makeup
Aneuploidy
Presence of abnormal number of chromosomes that does not match exact multiple of
haploid chromosomes
What is the main cause of aneuploidy?
Non-disjunction: failure of homologous pair to disjoin during meiosis
Haploid vs. Diploid
Haploid (n): one complete set of chromosomes
- n = 23 in humans
,Diploid (2n): two complete sets of chromosomes
- 2n = 46 in human
What are the four types of chromosomal abnormalities?
1. Deletion: loss of a portion of a chromosome
2. Duplication: presence of an extra copy of a DNA segment within a chromosome
3. Inversion: reversal of a segment of a chromosome's genetic material
4. Translocation: movement of a segment of one chromosome to another non-
homologous chromosome
Homologous vs. Nonhomologous Chromosomes
Homologous: chromosomes with the same sequence of genes, structure, appearance
(banding pattern)
Nonhomologous: chromosomes that have different sets of genes, may vary
significantly in structure and appearance
Allele
An alternative form of a gene
Homozygous vs. Heterozygous
Homozygous: carrying two identical alleles (RR, rr)
Heterozygous: carrying two different alleles (Rr)
Mutations most likely occur during...
DNA replication in cell division
DNA transcription
DNA to mRNA
- T switched to U
- RNA polymerase binds to template strand of DNA to synthesize RNA
- Occurs in nucleus
RNA processing
RNA splicing
- Introns spliced out, exons spliced together
- 5' cap and 3' tail added
Translation
, mRNA to proteins
- Start and stop codons
- Occurs on ribosomes in cytoplasm
Describe the two types of frameshift mutations
Insertion: Addition of a nucleotide
Deletion: loss of a nucleotide
Both affect all downstream codons, changing the function of the protein
Describe the four types of single base changes
Missense: single nucleotide change that changes the AA, affecting protein function
Silent: single nucleotide change that doesn't change the AA; protein's function remains
the same
Neutral: single nucleotide change that changes the AA but has little to no effect on the
protein's function
Nonsense: single nucleotide change that changes the AA into a stop codon, resulting in
a truncated and often nonfunctional protein
Characteristics of Autosomal Dominant
- No skipping of generations
- Males and females affected equally
- Affected heterozygous individuals have a 50% chance of transmitting trait to each
offspring
- Male to male transmission occurs
Characteristics of Autosomal Recessive
- Skips generations, rare
- Males and females affected equally
- Normal parents can be heterozygous (carriers)
- Carriers produce affected individuals 25% of time
- If both parents are affected (homozygous recessive), all offspring are affected
Characteristics of X-linked Dominant
- Usually rare and fatal
- Affected females are usually heterozygous
- Affected females pass allele on to half their sons and daughters
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