22 Questions
What is the pattern of inheritance when a disease is linked to the Y chromosome?
Transmission from fathers to sons
What is the expected percentage of affected offspring when an X chromosome carries a dominant allele?
50% offspring, regardless of sex
What is the characteristic of mitochondrial inheritance?
Mitochondrial inheritance is matrilineal
What is the term for when an individual has mitochondria with different genomes?
Heteroplasmy
What type of diseases are commonly caused by mutations in the mitochondrial genome?
Degenerative diseases
What determines the severity of a mitochondrial disease?
The number of damaged mitochondria
What is the term for an allele that requires two copies to express a characteristic?
Recessive
How are dominant alleles represented in genetic notation?
Capital letters
What type of inheritance is characterized by the phenotype appearing in all previous generations?
Autosomal dominant
Why are heterozygotes called carriers in recessive inheritance?
Because they can pass the allele to their children
What is the purpose of creating a pedigree or family tree in monogenic diseases?
To analyze the inheritance pattern
In what type of inheritance can the phenotype appear from couples without the trait?
Autosomal recessive
What is the term for the relationship where one allele is not clearly dominant over the other?
Codominance
In autosomal inheritance, what is the probability of showing the characteristic dependent on?
None of the above
What is the consequence of failing to cite sources or plagiarizing works during exams?
Loss of continuous evaluation and a 0.0 grade in that call
What happens if a student is found to have used unauthorized electronic devices during exams?
Their grade in that call will be 0.0
What is the purpose of the documentation provided by the teacher through the student portal?
To prepare for the subject
What is the term for having two copies of the genome, one from each parent?
Diploidy
What is the term for a variant of a gene?
Allele
What is the result of having two identical alleles of a gene?
Homozygosity
What is the interaction between the two alleles of the same gene called?
Dominance
What is the consequence of signing the attendance sheet by a classmate who is not in class?
Loss of continuous evaluation
Study Notes
Rules of Behavior
- Failure to maintain academic integrity, including plagiarism and unauthorized use of information, will result in loss of continuous evaluation and potential sanctions.
- Improper use of electronic devices during exams will result in a grade of 0.0 and may require oral examination in future calls.
- Electronic devices are not allowed during classes, and teacher-provided materials are restricted to preparation of the subject.
Human Genetics
- Humans are diploid, having two copies of the genome, one maternal and one paternal.
- Each variant of a gene is called an allele, and individuals can be homozygous (same alleles) or heterozygous (different alleles).
- The interaction between alleles establishes a degree of dominance, with dominant alleles requiring a single dose to manifest a character and recessive alleles requiring two doses.
- Dominant alleles are represented by capital letters and recessive alleles by lower case letters.
Inheritance Patterns
- Monogenic diseases are caused by a mutation in a single gene, and a pedigree or family tree is used to analyze and characterize these diseases.
- Autosomal inheritance patterns include:
- Dominant: affected individuals have at least one affected parent, and normal relatives do not transmit the anomaly to their children.
- Recessive: the phenotype may appear from couples without the trait, and heterozygotes are called carriers.
- Linked to sex chromosomes:
- Y-linked: transmission from fathers to sons.
- X-linked:
- Dominant: affected fathers pass the trait to all daughters, but not to sons.
- Recessive: affected fathers pass the trait to 50% of offspring, regardless of sex.
- Linked to the mitochondrial genome:
- Diseases are usually degenerative and affect energy-requiring organs.
- Inheritance is matrilineal, with paternal mitochondria eliminated after fertilization.
- The degree of severity depends on the number of damaged mitochondria carried by the individual.
- Heteroplasmy occurs when an individual has mitochondria with different genomes.
Learn about the rules of behavior in academic settings, including consequences of plagiarism and cheating.
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