readings (cortical pathways, blindness,
sensory, review on NT release & Nernst
AP) 2025 Expert Verified | Ace the Test
Human genome: - 🧠ANSWER ✔✔→ 20,000genes
→ 10kB (23 chomos)
4 gene identification: - 🧠ANSWER ✔✔→ functional cloning=know prior
function of gene, purify, clone
→ candidate gene=identify common potential gene of all affected
patients(based on 1'pathology)
,→ positional cloning=identify gene w/o prior knowledge of fx; solely
mapping
→ positional candidate=identify EST/cDNA, compare it's location within
diseased locus map
Homologous Recombination: - 🧠ANSWER ✔✔→ 2 homo chromo pair
crossover (recombinations) btn sister chromatids
→ homo chromo segregate
→ duplicate chromo segregation yields cells containing only 1 copy of dz
chromo
Patterns of Mendelian inheritance: - 🧠ANSWER ✔✔→ autosomal
dominant-phenotype= 1 mutant gene copy to work
→ autosomal recessive phentotype=2 mutant gene copies to work
→ X linked=males at higher risk coz they only have 1 X(no second
chances)
Genetic (linkage) mapping: - 🧠ANSWER ✔✔→ procedure which trait is
located on genome based on segregation patterns
, → frequency of recombination events depend on length of segments,
nucleotide sequence, genomic location, gender dependent
→ consequence of recombination=diff offspring receive equal but not
identical genes from each parent
→ Linkage analysis=data mass collected till linake is detected/refuked.
Applications of linkage map: - 🧠ANSWER ✔✔→establish genetic basis of
traits
→ predict risk for disease
→ localize hereditary disorders to specific regions of the genome
→ clone genes by positional cloning
→ study gene conservation across species and chromosomal evolution
Factors affecting linkage mapping of a disease: - 🧠ANSWER ✔✔→
penetrance probability that carrier will have phenotype
→ frequency of the disease gene in population (Mendelian <0.1%)
→ age of onset variability
*most human dz are complex, not Mendelian(linkage)
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