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HUMAN GENETICS
This material is for exclusive use of BIO 121 (General Genetics) students
under the Science Department, CNSM, Mindanao State University-General
Santos. Unauthorized use of this material is prohibited.
Learning Outcomes Primary References
Cell
4. Genome
3. Chromosome
7. Population
5. Individual
6. Family (pedigree)
Chief method used in human genetics is
pedigree analysis
The family
Autosomal Dominance- The trait that is due to an autosomal dominant gene never
skips a generation. The affected individual may either be homozygous dominant or
heterozygous for the trait.
• Autosomal Dominant
No skipping of generations
Example: Achondroplasia
Autosomal recessive
Both parents are normal, but may see multiple affected
individuals in the sibship, even though the disease is very
rare in the population Usually see “skipped” generations.
Because most matings are with homozygous normal individuals
and no offspring are affected
Sickle-cell anemia
Cystic fibrosis
Phenylketonuria (PKU)
• A hereditary disorder due to an autosomally recessive allele
• Most common disease in the U.S (1 in every 2000 births)
• Affected individuals die before reproductive age; no homozygotes reproduce.
• CF gene was identified and sequenced in 1989; encodes a large protein (about
1500 aa) that functions in cell membrane to regulate water balance inside cells.
• Defective CF protein prevents chloride ions from exiting cells, resulting in
excess water inside the cell
All mucus producing gland malfunction especially those in the
respiratory and digestive systems.
• Leads to the buildup of thick dry mucus in lungs causing a persistent cough and difficulty in
breathing. Residual mucus also good medium for bacterial growth ( pneumonia and other
infections )
• Mucus also clogs ducts of pancreas, blocking passage of important enzymes; food can not be
digested= malnutrition
• Another effect is unusually high concentration of salt in sweat(2-5 times saltier); detected when
parents kiss their babies
• Clinically detected using the sweat test- measures concentration of salt in a sample taken from
a warmed patch on the child’s back or forearm
Fragile x syndrome
Fragile x syndrome – Sex-linked Recessive
2. Karyotype Analysis
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Group Chromosome Size Centromere Location
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Widow’s Peak
Straight hairline
• Bent little finger-a dominant trait
Unattached Attached ear
ear lobes are lobes are
inherited as a inherited as a
dominant recessive
trait. trait.
Inherited Human Traits
Quantitative Traits
• Mendel worked with traits that were all discrete, either/or traits:
yellow or green, round or wrinkled, etc. Different alleles gave clearly
distinguishable phenotypes.
• However, many traits don’t fall into discrete categories: height, for
example, or yield of corn per acre. These are “quantitative traits”.
• Wheat is a hexaploid, the result of 3 different species producing a stable hybrid, an allopolyploid. There are
thus 3 similar but slightly different genomes contained in the wheat genome, called A, B, and D.
• Each genome has a single gene that affects kernel color, and each of these loci has a red allele and a white
allele. We will call the red alleles A, B, and D, and the white alleles a, b, and d.
• Inheritance of these alleles is partially dominant, or “additive”. The amount of red pigment in the kernel is
proportional to the number of red alleles present, from 0 to 6.
• Eye color appears to vary
on an almost continuous
scale from brown to green
to gray to blue