Genetics and Inheritance Quiz
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Questions and Answers

What type of inheritance does a trait transmitted from one dominant gene exemplify?

  • Autosomal dominant (correct)
  • Co-dominance
  • Autosomal recessive
  • Sex-linked dominant
  • What comprises the smallest unit of DNA?

  • Chromatid
  • Chromosome
  • Gene
  • Nucleotide (correct)
  • Which of the following disorders is NOT commonly associated with autosomal dominant inheritance?

  • Polycystic kidney disease
  • Familial hypercholesterolaemia
  • Huntington’s disease
  • Cystic fibrosis (correct)
  • What type of inheritance did Gregor Mendel's studies primarily focus on?

    <p>Mendelian inheritance (B)</p> Signup and view all the answers

    Which aspect of genetic predisposition is true?

    <p>It increases the likelihood of developing a disease. (D)</p> Signup and view all the answers

    What does co-dominance refer to in genetic inheritance?

    <p>Both dominant alleles are expressed (B)</p> Signup and view all the answers

    What is described by the term 'genotype'?

    <p>The unique sequence of DNA (D)</p> Signup and view all the answers

    In Mendel's first experiment, what was the genotype of the tall plants crossed?

    <p>TT (A)</p> Signup and view all the answers

    In a Punnett's Square, if both parents are carriers for an autosomal recessive disorder, what is the probability that their child will be affected?

    <p>1/4 (C)</p> Signup and view all the answers

    Which of the following is true regarding dominant and recessive traits?

    <p>A dominant trait can mask a recessive trait. (D)</p> Signup and view all the answers

    Which of the following describes sex-linked inheritance?

    <p>Located on the sex chromosomes (C)</p> Signup and view all the answers

    What does the term 'epistasis' refer to in genetic interactions?

    <p>A condition where one gene masks the expression of another (C)</p> Signup and view all the answers

    What type of DNA is primarily located in the mitochondria?

    <p>Mitochondrial DNA (D)</p> Signup and view all the answers

    Which statement accurately describes mutations?

    <p>Mutations can lead to various disease states. (A)</p> Signup and view all the answers

    Which of these characteristics does NOT typically follow Mendelian inheritance?

    <p>Human skin color (D)</p> Signup and view all the answers

    How does a mutation in the genotype affect the organism?

    <p>It may change the observable traits (phenotype). (A)</p> Signup and view all the answers

    What type of point mutation involves a base being added or deleted from the DNA sequence?

    <p>Frameshift mutation (C)</p> Signup and view all the answers

    Which point mutation results in a change to a stop codon, leading to a truncated protein?

    <p>Nonsense mutation (D)</p> Signup and view all the answers

    Which type of mutation does NOT alter the amino acid sequence due to redundancy in the codon code?

    <p>Silent mutation (A)</p> Signup and view all the answers

    In which point mutation does only one amino acid coding get disturbed?

    <p>Missense mutation (C)</p> Signup and view all the answers

    Which gross mutation involves the loss of a chunk of DNA from a chromosome?

    <p>Deletion (D)</p> Signup and view all the answers

    What is a common consequence of frameshift mutations?

    <p>Truncated or altered protein (B)</p> Signup and view all the answers

    What type of mutation is characterized by a single base being replaced without addition or deletion?

    <p>Missense mutation (B)</p> Signup and view all the answers

    Which of the following statements about gross mutations is true?

    <p>They can involve deletions, insertions, and translocations. (A)</p> Signup and view all the answers

    Which type of disorder is most commonly associated with the X chromosome?

    <p>X-linked recessive disorders (D)</p> Signup and view all the answers

    What is a characteristic symptom of Fragile X syndrome?

    <p>Long face (D)</p> Signup and view all the answers

    What distinguishes X-linked dominant disorders from X-linked recessive disorders?

    <p>No common conditions are inherited this way (A)</p> Signup and view all the answers

    What are point mutations?

    <p>Mutations that involve a change in the base sequence (D)</p> Signup and view all the answers

    Which of the following is NOT a cause of mutations?

    <p>Normal cellular metabolism (C)</p> Signup and view all the answers

    What is the primary distinction between mutants and wild types?

    <p>Wild types exhibit the usual phenotype for that species (A)</p> Signup and view all the answers

    What is a significant factor concerning the inheritance of X-linked recessive disorders?

    <p>Affected males pass the disorder to all daughters (B)</p> Signup and view all the answers

    What is the primary function of the p53 gene?

    <p>To regulate apoptosis (A)</p> Signup and view all the answers

    Which cancer types have been associated with damage to the p53 gene?

    <p>Sarcomas, adrenal tumours, and breast cancer (A)</p> Signup and view all the answers

    What kind of disorder is Duchenne muscular dystrophy classified as?

    <p>X-linked recessive disorder (B)</p> Signup and view all the answers

    What type of mutation is described as the insertion of extra bases from another part of a chromosome?

    <p>Gross mutation - insertion (C)</p> Signup and view all the answers

    What role do telomeres play in cellular biology?

    <p>They protect chromosomes from degradation (B)</p> Signup and view all the answers

    What is the function of telomerase in cancer cells?

    <p>To extend telomere length (D)</p> Signup and view all the answers

    Which of the following disorders is caused by a translocation mutation?

    <p>Down syndrome (A)</p> Signup and view all the answers

    What happens to the genes during an inversion mutation?

    <p>A gene rotates and is reinserted upside down (D)</p> Signup and view all the answers

    What is the lifetime risk of breast cancer for females?

    <p>1 in 8 (B)</p> Signup and view all the answers

    Which syndrome is associated with a higher risk of colorectal cancer?

    <p>Lynch syndrome (D)</p> Signup and view all the answers

    Which syndrome is associated with gene duplication on chromosome 12?

    <p>Pallister Killian syndrome (D)</p> Signup and view all the answers

    What percentage of breast cancer cases are attributed to BRCA1 and BRCA2 mutations in familial cases?

    <p>About 60% (B)</p> Signup and view all the answers

    What is a key characteristic of chronic myelogenous leukaemia?

    <p>Involves chromosome translocation (D)</p> Signup and view all the answers

    What is a potential consequence of a gross mutation involving frameshift?

    <p>Truncated protein production (A)</p> Signup and view all the answers

    What genetic inheritance pattern is characterized by familial adenomatous polyposis?

    <p>Autosomal dominant (D)</p> Signup and view all the answers

    Which of the following accurately describes gross mutations?

    <p>Include insertions, translocations, inversions, and duplications (B)</p> Signup and view all the answers

    Flashcards

    Genotype

    The complete set of genetic instructions in an organism, typically represented by the DNA sequence.

    Phenotype

    The observable characteristics of an organism, resulting from the interaction of genotype and environment.

    Heterozygous

    A pair of genes controlling a trait, where one gene is dominant and the other is recessive.

    Homozygous

    A pair of genes controlling a trait, where both genes are the same (either both dominant or both recessive).

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    Allele

    A specific version of a gene, responsible for a particular trait.

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    Genetic inheritance

    The process of inheriting traits from parents to offspring.

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    Central dogma of molecular biology

    The process of transcribing DNA into RNA, which then translates into proteins.

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    Mutation

    A change in the DNA sequence, potentially leading to altered protein function or phenotype.

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    Mendelian inheritance

    A type of inheritance where a single gene determines a trait or disorder, following the principles outlined by Gregor Mendel.

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    Punnett's square

    A diagram used to predict the possible genotypes and phenotypes of offspring from a cross between two individuals.

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    Dominance

    A pattern of inheritance where one allele masks the effect of another allele.

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    Co-dominance

    A type of inheritance where the effects of both alleles are equally expressed.

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    Multigene factors

    A type of inheritance pattern where the inheritance of a trait is influenced by multiple genes.

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    Autosomal inheritance

    A type of inheritance pattern where the trait resides on one of the 22 pairs of chromosomes that are not sex chromosomes.

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    Sex-linked inheritance

    A type of inheritance pattern where the trait resides on the sex chromosomes (X and Y).

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    Sex-linked disorders

    Disorders caused by genes located on the sex chromosomes (X or Y). Most are X-linked due to the larger size of the X chromosome.

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    X-linked recessive disorders

    Disorders caused by recessive alleles on the X chromosome. They are more common in males because they only have one X chromosome.

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    Fragile X syndrome

    A type of X-linked recessive disorder where a mutation in a gene causes intellectual disability, physical features like a long face and large ears, and enlarged testes.

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    Haemophilia

    A type of X-linked recessive disorder where a mutation in a gene affects blood clotting, leading to excessive bleeding.

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    Duchenne muscular dystrophy

    A type of X-linked recessive disorder where a mutation in a gene causes progressive muscle degeneration, leading to weakness, wheelchair dependency, and eventually confinement to bed.

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    Wild type

    An organism with the typical, expected phenotype for a species.

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    Mutant

    An organism with a phenotype that differs from the wild type due to a mutation.

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    Point mutations

    A change in a single nucleotide within a gene sequence. It can lead to different effects on the protein that is produced.

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    Silent mutations

    A point mutation where the altered nucleotide does not change the amino acid sequence of the protein. This happens because the genetic code has redundancies.

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    Frameshift mutations

    A point mutation where a nucleotide is either deleted or added within a gene sequence. This shifts the reading frame, resulting in an incorrect amino acid sequence and a potentially nonfunctional protein.

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    Missense mutations

    A point mutation where a single base in a codon is replaced by a different base. This change leads to a different amino acid being incorporated into the protein.

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    Nonsense mutations

    A point mutation where a misplaced base changes a codon into a stop codon. This premature stop codon results in a truncated protein.

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    Gross mutations

    A substantial change in DNA sequence involving a long stretch of DNA. These mutations can include deletions, insertions, translocations, inversions, and duplications.

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    Deletions

    A gross mutation where a segment of DNA is removed from a chromosome. This can lead to the loss of a complete gene, part of a gene, or regulatory elements, affecting protein production.

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    Insertions

    A gross mutation where a segment of DNA is inserted into a different location on the chromosome. This can disrupt the gene or introduce new genetic material.

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    Gross mutations - insertions

    A type of mutation that involves the insertion of extra bases, often from another chromosome. This can lead to a frameshift mutation, affecting the reading frame and protein production.

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    Gross mutations - translocation

    A type of mutation that occurs when sections of chromosomes exchange places. These mutations can have significant consequences for protein function and lead to various genetic disorders.

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    Gross mutations - inversion

    A type of mutation where a gene segment rotates and is reinserted into the same chromosome. Inversion can occur with or without involvement of the centromere, leading to potential disruption of protein function.

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    Gross mutations - duplication

    A type of mutation where a gene is duplicated, potentially leading to the creation of new genetic material and evolutionary changes. This can occur during DNA replication or recombination.

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    Point mutations - substitution

    A mutation where a single nucleotide base is substituted with another. This can result in a different amino acid being incorporated, potentially affecting protein function depending on the nature of the substitution.

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    Point mutations - deletion

    A mutation where one or more nucleotides are deleted from a gene sequence, causing a frameshift and potentially affecting protein function.

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    Point mutations - insertion

    A mutation where one or more nucleotides are added to a gene sequence, causing a frameshift and potentially affecting protein function.

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    Tumor Suppressor Gene

    A gene that, when mutated, can increase the risk of cancer development. These genes often play a role in regulating cell growth and death, and their malfunction can lead to uncontrolled cell division.

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    Telomere

    A protein that protects the ends of chromosomes from degradation and fusion. Telomeres shorten with each cell division and can trigger cell senescence.

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    Telomerase

    An enzyme that adds telomeric DNA sequences to the ends of chromosomes, lengthening them and potentially extending the lifespan of cells.

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    BRCA1 & BRCA2

    A gene involved in DNA repair, cell cycle regulation, and transcription. Mutations in these genes greatly increase the risk of developing breast and ovarian cancers.

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    Lynch Syndrome

    A genetic disorder that increases the risk of various cancers, particularly those in the colon and rectum. Individuals with this disorder often develop multiple polyps in the colon.

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    Familial Adenomatous Polyposis

    An inherited disorder that predisposes individuals to the development of numerous polyps in the colon. This condition significantly increases the risk of colorectal cancer.

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    Apoptosis

    The process by which cells undergo programmed death. This can be triggered by various factors, including DNA damage, and is crucial for maintaining tissue homeostasis.

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    Cancer Genetics

    The study of how genes and environment interact to influence the likelihood of developing cancer. Some genetic predispositions may be amplified by environmental factors.

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    Study Notes

    Nutritional Biochemistry

    • Course title: DIET413/BHCS1019
    • Lecturer: Dr Nathaniel Clark FHEA RNutr MRSB
    • Email: [email protected]

    Previously...

    • DNA is made of nucleotides
    • Nucleotides consist of a nitrogenous base, a pentose sugar, and a phosphate group
    • Polynucleotide chains are formed through phosphodiester bonds connecting the phosphate group and sugar between nucleotides
    • DNA coils around histone proteins to condense into chromatin
    • The DNA code is transcribed and translated to form proteins (phenotype)
    • These processes are highly controlled through enzyme action
    • DNA is also found in mitochondria, which produces proteins for respiration
    • Various disease states are caused by mutations to the genome

    Learning Outcomes

    • Outline genetic inheritance (autosomal and sex inheritance)
    • Describe different types of mutations
    • Determine how DNA damage can be repaired
    • Briefly consider some types of cancer

    Genotype and Phenotype

    • Genotype: The unique DNA sequence of an organism
    • Phenotype: The effect of a mutation on the organism
    • Changes in genotype can affect phenotype
    • Inheritable phenotypes are based on genotype

    Mendelian Inheritance

    • Based on work by Gregor Mendel (1822-1884)
    • Proposed factors (genes) controlling traits are in pairs (one from each parent)
    • Each factor can be dominant or recessive
    • Dominant factors (heterozygous) mask recessive factors (homozygous)

    Mendelian Inheritance - Experiments

    • First experiment crossed homozygous tall plants (TT) with homozygous short plants (tt), producing all tall plants (F1)
    • Second experiment crossed hybrid tall plants (Tt), producing a ratio of 3 tall plants to 1 short plant (F2)

    Mendelian Inheritance - Punnett's Square

    • Visual representation of trait inheritance patterns
    • Displays possible allele combinations in offspring

    Mendelian Inheritance - Limitations

    • Dominance doesn't always apply to all traits
    • Some traits exhibit blending inheritance
    • Co-dominance occurs when two dominant alleles are expressed together (e.g., blood type)
    • Non-allelic gene interaction (epistasis) occurs when the presence or absence of one gene affects the expression of another

    Patterns of Inheritance

    • Autosomal inheritance: Traits controlled by genes located on non-sex chromosomes
    • Sex-linked inheritance: Traits controlled by genes located on sex chromosomes (X and Y)
    • Autosomal dominant: Affected individual has at least one dominant allele, so an affected parent can pass on the trait to their children
    • Autosomal recessive: Affected individual has two recessive alleles, so both parents must carry the allele to pass it on to their children
    • Sex-linked dominant: Trait determined by a dominant allele on the X chromosome
    • Sex-linked recessive: Trait determined by a recessive allele on the X chromosome

    Autosomal Dominant Inheritance

    • Trait or disorder carried on a dominant gene
    • Easily seen using a Punnett square
    • Examples: Familial hypercholesterolaemia, Polycystic kidney disease, Huntington’s disease

    Autosomal Recessive Inheritance

    • Trait or disorder carried on a recessive allele
    • Both parents must carry the allele to pass it on to their child
    • Examples: Haemochromatosis, Cystic fibrosis

    Activity

    • Calculating the probability of offspring inheriting haemochromatosis given parental genotypes

    Sex-linked Disorders

    • Alleles carried on X or Y chromosomes
    • Most sex-linked disorders arise from alleles on the X chromosome
    • Only one copy of the X chromosome in each individual
    • X-linked recessive: Affected male (XhY), often passed down from a carrier female (XhX)
    • X-linked dominant rare.

    X-linked Recessive Disorders

    • Transmission depends on whether the mother or father is carrying the allele
    • Examples: Fragile X syndrome, Haemophilia, Duchenne muscular dystrophy

    X-linked Dominant Disorders

    • Very rare, no common conditions inherit this way
    • Difference in offspring relative risk (1 in 4 versus 1 in 2 for daughters)

    Mutations

    • Changes in DNA sequence
    • Base sequence on DNA determines protein structure
    • Genome consists of approximately 3 billion base pairs, distributed across 23 chromosomes (ranging from 50 to 300 million base pairs)
    • Potential for mutations to occur

    Mutants versus Wild Types

    • Wild type: Organism with usual phenotype for the species
    • Mutant: Organism whose phenotype has changed due to mutation
    • Mutations occur in two forms: point mutations (involving a single base change) or gross mutations (involving larger stretches of DNA)

    Point Mutations

    • The consequences of point mutations are based on an understanding of triplet coding
    • Main types:
    • Silent mutations
    • Frameshift mutations
    • Missense mutations
    • Nonsense mutations

    Point Mutations - Silent

    • Wrong nucleotide occurs, but it doesn’t change the amino-acid sequence.
    • Redundancy in the codon code: DNA sequence and corresponding amino acid remain the same, even with a different nucleotide.
    • Polymorphisms are where these mutations occur in organisms

    Point Mutations - Frameshift

    • A base is lost or added
    • Results in incorrect triplet code, disrupting amino acid sequence
    • Serious impact on the encoded protein and can lead to mutant phenotypes

    Point Mutations- Missense

    • A single base is replaced
    • Only the amino acid is disturbed
    • Structure of the final protein is slightly altered

    Point Mutations - Nonsense

    • The misplaced base causes the triplet code to become a stop codon
    • No corresponding amino acid can be added when the stop codon is encountered
    • Protein becomes truncated/incomplete

    Gross Mutations (Deletions, Insertions, Translocation, Inversion, Duplication)

    • Substantial alterations to DNA, particularly long DNA sequences
    • Deletions: Loss of a gene or part of a gene
    • Insertions: Extra bases inserted into the DNA sequence
    • Translocations: Parts of chromosomes are exchanged
    • Inversions: Sections of DNA are reversed
    • Duplications: Extra copies of a gene or part of a gene

    DNA Damage and Response

    • DNA is constantly under attack
    • Agents can either directly damage bases (point mutations) or break the phosphodiester backbone (gross mutations)
    • Repair mechanisms exist for many types of mutations, but are not perfect

    Repair Mechanisms (Base Pair Excision, Nucleotide Excision, Mismatch Repair)

    • Processes through which DNA may be repaired

    Cancer

    • Cell growth and differentiation are controlled by hormones and growth factors acting on cell surface receptors
    • Genome damage in specific areas (introns, exons), is a factor linked to issues with cell regulation leading to disease
    • Lifestyle and environmental factors (smoking, diet, alcohol, obesity, radiation) contribute to cancer
    • DNA damage to growth control genes (proto-oncogenes), and tumor suppressor genes contribute
    • Cancer due to telomere damage, disruption with telomerase

    Proto-oncogenes

    • Genes involved in normal cell growth and division
    • Can become oncogenes through mutations, promoting uncontrolled cell growth and development

    p53

    • A tumor suppressor gene involved in regulating cell division and apoptosis (cell death)
    • Damage to p53 can result in uncontrolled cell proliferation and increased risk of cancer

    Telomeres

    • Protective caps at the ends of chromosomes
    • Telomere shortening occurs with each cell division
    • Telomerase enzyme can maintain telomere length

    Cancer Etiology: Variation In Cancer Risk Among Tissues Can Be Explained By The Number Of Stem Cell Divisions

    • Correlation between cancer risks and total stem cell divisions
    • Implication that random mutations during DNA replication in normal cells are a major factor in the development of certain cancers.

    Cancer From Our Environment

    • Studies of twins to estimate contributions from inherited genes /environmental factors in cancer development, highlighting the significant effect of inherited genes on the risk of some cancers (prostate, colorectal, and breast)

    Breast Cancer (BRCA Genes)

    • Most breast cancer is sporadic (not inherited)
    • Inherited cases are often linked to BRCA1/BRCA2 gene mutations that impair DNA repair
    • Prophylactic mastectomy is a possible intervention to reduce breast cancer risk.

    Colorectal Cancer (HNPCC)

    • Genetic predisposition accounts for some cases (Lynch syndrome, HNPCC)
    • Lynch syndrome: Inherited disorder increasing risk of colon and rectum cancers
    • Other causes: Familial adenomatous polyposis which accounts for less than 1% of cases

    Familial Adenomatous Polyposis (FAP)

    • Autosomal dominant condition characterized by multiple polyps, frequently in the colon
    • If not treated, colorectal cancer will develop by middle age
    • Risk of upper gastrointestinal cancers is also associated with FAP

    Summary

    • Mendelian inheritance is a system describing how traits are inherited and expressed
    • DNA sequence can be altered in multiple ways
    • Errors not fixed by repair mechanisms can lead to disease like cancer

    Revision Session

    • Split into two parts for different exam categories: Dietitians (11-12) and Nephrologists (12-1)

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    Description

    Test your knowledge on different types of genetic inheritance, including Mendelian, co-dominance, and sex-linked traits. This quiz covers key concepts such as genotypes, phenotypes, and genetic disorders. Perfect for students studying genetics!

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