Genetics: Pedigree Analysis and Nonpenetrance
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Questions and Answers

What does a pedigree diagram primarily help to determine?

  • The exact genetic composition of an individual
  • The environmental influences on genetic traits
  • The mode of inheritance of genetic diseases (correct)
  • The lifestyle choices of family members

Which term refers to the failure of a dominant condition to manifest?

  • Variable expressivity
  • Recessive inheritance
  • Gene interaction
  • Nonpenetrance (correct)

Variable expressivity is defined as variation in what among individuals with the same genotype?

  • Non-binary phenotype (correct)
  • Environmental exposures
  • Treatment responses
  • Genetic makeup

Nonpenetrance is most commonly a complication associated with which type of genetic character?

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

What is described as the probability that a person with a particular genotype will manifest the character?

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

What is a significant challenge in genetic counseling related to dominant characters?

<p>Addressing nonpenetrance and variable expressivity (A)</p> Signup and view all the answers

How is variable expressivity specifically quantified?

<p>By assessing the degree of trait expression among genotype carriers (A)</p> Signup and view all the answers

Which genetic factor is commonly associated with the variability in symptoms of genetic disorders?

<p>A combination of genetic, environmental, and lifestyle factors (D)</p> Signup and view all the answers

What is a characteristic of trinucleotide repeat disorders such as Huntington's disease?

<p>They can cause gain of function in mutant proteins (A)</p> Signup and view all the answers

What occurs during meiosis with unstable trinucleotide repeats?

<p>They can undergo triplet expansion (C)</p> Signup and view all the answers

In myotonic dystrophy, what must occur for the trinucleotide repeat to have a detrimental effect?

<p>The repeat number must exceed a specific threshold (B)</p> Signup and view all the answers

Which best describes the effect of trinucleotide repeat expansion when it occurs in untranslated regions?

<p>It can affect many genes through a dominant negative effect (D)</p> Signup and view all the answers

What does the term pleiotropy refer to in genetics?

<p>A gene that influences several traits (B)</p> Signup and view all the answers

Which of the following is a major effect caused by the pleiotropic gene related to phenylketonuria?

<p>Mental retardation (C)</p> Signup and view all the answers

Sickle-cell anemia affects various systems in the body. What is one of the physiological effects of sickled red blood cells?

<p>Clumping leading to restricted blood flow (C)</p> Signup and view all the answers

How does the mutation in the beta-chain of hemoglobin in sickle-cell anemia benefit certain individuals?

<p>It provides resistance to malaria (D)</p> Signup and view all the answers

What is the primary cause of the pigmentation changes observed in phenylketonuria?

<p>Decreased conversion of phenylalanine to tyrosine (A)</p> Signup and view all the answers

Cystic fibrosis is classified as what type of genetic disorder?

<p>Autosomal recessive (B)</p> Signup and view all the answers

Which term describes a group of related phenotypic changes caused by a single gene?

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

In the case of phenylketonuria, the concentration of which amino acid becomes toxic to infants?

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

What is a secondary effect of the pleiotropic gene in sickle-cell anemia?

<p>Bone marrow hypertrophy (A)</p> Signup and view all the answers

What is the genotype for blood type A?

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

Which blood type does not have A or B antigens?

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

What phenomenon describes increasing severity and earlier onset of symptoms in successive generations of a genetic condition?

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

Which of the following genotypes corresponds to blood type AB?

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

What best describes heterodominance?

<p>Heterozygotes display a more extreme phenotype. (B)</p> Signup and view all the answers

What is a trinucleotide repeat expansion?

<p>A sequence of three DNA nucleotides repeated several times. (C)</p> Signup and view all the answers

What antibodies are present in blood type B?

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

How does anticipation typically affect genetic disorders?

<p>Results in earlier age of onset and increased severity. (B)</p> Signup and view all the answers

Which blood type will have both 'a' and 'b' antibodies?

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

What is the phenotypic ratio of the F2 progeny when crossing a homozygous red flowered plant with a homozygous white flowered plant, assuming blending inheritance?

<p>1:2:1 (B)</p> Signup and view all the answers

In the context of co-dominance, what does the genotype LM LN represent in humans?

<p>Blood group MN (A)</p> Signup and view all the answers

What phenomenon describes the presence of multiple forms of a gene, such as in the ABO blood group system?

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

Which blood group corresponds to the genotype IA i?

<p>Blood group A (B)</p> Signup and view all the answers

How many different blood group phenotypes exist in the human ABO blood group system?

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

The M-N blood group system in humans is an example of which genetic interaction?

<p>Co-dominance (D)</p> Signup and view all the answers

What is the expected outcome of crossing two individuals with blood group AB?

<p>Blood groups A, B, AB only (B)</p> Signup and view all the answers

What type of alleles are found in the ABO blood group system?

<p>Mutant alleles (C)</p> Signup and view all the answers

Which blood group is characterized by the absence of antigens A and B?

<p>Blood group O (B)</p> Signup and view all the answers

Which genotype is associated with blood group B in the ABO blood group system?

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

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Flashcards

Pedigree

A chart that visually represents the inheritance of specific traits across two or more generations in a family, often used to track genetic diseases.

Pedigree Analysis

The analysis of pedigrees to understand the inheritance patterns of traits and diseases within families.

Nonpenetrance

The failure of a dominant gene to express itself in an individual who carries it, meaning they don't show the associated trait even though they have the gene.

Variable Expressivity

The extent to which a trait is expressed in individuals who carry the gene for that trait.

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Complete Penetrance

A condition where the probability that a specific genotype will lead to a specific trait is 100%.

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Incomplete Penetrance

A situation where a person with a specific genotype may or may not exhibit the associated trait, depending on factors like environment or other genes.

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Variable Expressivity

The variation in severity or expression of a trait among individuals carrying the same gene, even within the same family.

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Pleiotropy

A gene that affects multiple traits, often in different ways.

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Major vs. Secondary Effect

A single gene's effect can be more pronounced in one trait than others.

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Syndrome

A collection of symptoms or traits caused by a single gene mutation.

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Phenylketonuria (PKU)

A genetic disorder where the body can't properly process phenylalanine (an amino acid).

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Sickle-Cell Anemia

A genetic disorder causing sickle-shaped red blood cells, leading to various health complications.

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Cystic Fibrosis

A genetic disorder causing thick, sticky mucus buildup in various organs, leading to respiratory and digestive problems.

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Phenylalanine Hydroxylase

The enzyme that converts phenylalanine to tyrosine.

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Sickling of Erythrocytes

The abnormal shaping of red blood cells due to a mutation in a hemoglobin gene.

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Melanin

The pigment found in hair and skin.

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Incomplete Dominance

A condition where two alleles of a gene exist, but neither completely masks the other, leading to a blended phenotype in the offspring.

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Multiple Alleles

A trait that arises from the combined expression of multiple alleles at a single gene locus.

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Co-dominance

A situation where two alleles of a gene are both expressed equally in the phenotype of a heterozygote, resulting in both traits being visible.

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Genotype

The genetic makeup of an organism, represented by the combination of alleles it carries for a particular trait.

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Phenotype

The observable physical characteristics of an organism, determined by its genotype and environmental influences.

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Alleles

The different forms of a gene that occupy the same locus (position) on a chromosome.

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Gametogenesis

The process of producing gametes (sperm or egg cells) where each gamete receives only one allele from each pair.

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F2 generation

The offspring produced from a cross between two individuals of the first filial generation (F1).

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F1 generation

The offspring produced from a cross between two individuals of the parental generation (P).

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Parental generation (P)

The original individuals involved in a genetic cross, representing the starting point of the experiment.

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Trinucleotide Repeat

A type of genetic mutation where a sequence of three nucleotides (a trinucleotide) repeats multiple times within a gene. This repetition can increase in length during cell division, often leading to disease.

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Triplet Expansion

A process where the number of trinucleotide repeats within a gene increases during cell division, often due to instability in the DNA. This can lead to the development of genetic disorders.

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Gain of Function

A mechanism by which trinucleotide repeat expansions can cause disease. When the repeat is within the protein-coding region, it creates an abnormally long protein with altered function.

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Dominant Negative Effect

A mechanism by which trinucleotide repeats can have a detrimental effect on gene expression. The repeat can interfere with the regulation of the gene in which it resides or even affect the expression of other genes.

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Threshold Effect

The minimum number of trinucleotide repeats required for a genetic disorder to manifest. Not all individuals with a trinucleotide expansion will have the disorder.

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Heterodominance (Overdominance or Superdominance)

A genetic phenomenon where the heterozygote expresses a trait more extreme than either homozygous parent, leading to a stronger phenotype in the offspring. Think of it as a mix creating something more prominent than the individual ingredients.

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Anticipation

The occurrence of a genetic disorder becoming more severe and appearing earlier in subsequent generations, often due to expansion of trinucleotide repeats.

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Trinucleotide Repeat Expansion

The expansion of a trinucleotide repeat, leading to an increased number of repeats, which can cause genetic disorders to become more severe in successive generations.

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Nucleotides

The basic building blocks of DNA, representing adenine, guanine, cytosine, and thymine.

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Trinucleotide Repeat Variation

A change in the number of repeats in a trinucleotide repeat sequence, which can lead to genetic disorders or changes in gene expression.

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Study Notes

Pedigree Analysis

  • Pedigree is a chart that shows the inheritance of traits over multiple ancestral generations, typically in human beings or domesticated animals.
  • It uses symbols to represent people and lines to depict genetic relationships.
  • Pedigree analysis follows the movement and distribution of genetic traits over generations.
  • It helps to document biological relationships in families and determine the mode of inheritance of genetic diseases (dominant, recessive).
  • Medical geneticists and genetic counselors often construct pedigrees.

Nonpenetrance

  • Nonpenetrance is when a dominant condition fails to manifest, despite the presence of the dominant genotype.
  • The penetrance of a trait is the probability that a person with a particular genotype will express that trait.
  • Dominant traits are normally expected to manifest in heterozygotes (100% penetrance). However, this doesn't always occur.
  • Factors like genetic background, lifestyle, and chance can affect whether or not a trait manifests.

Variable Expressivity

  • Expressivity quantifies the variation in a non-binary phenotype among individuals carrying the same genotype.
  • It describes the degree to which a trait is expressed.
  • It differs from penetrance. Penetrance focuses on whether a trait is expressed at all, while expressivity focuses on the extent it's expressed.

Pleiotropy

  • Pleiotropy describes when a single gene influences multiple phenotypic traits.
  • The gene may have multiple effects on different traits simultaneously.
  • One gene may have different impacts. These could be evident primarily on one trait while also having a secondary effect on others

Late Onset

  • Genetic conditions aren't always present at birth.
  • The genotype can be fixed at conception, but the phenotype may not be evident until later in life.
  • Factors like slow accumulation of harmful substances, slow tissue death, or inability to repair environmental damage can lead to delayed onset.
  • Age-of-onset curves are important tools for estimating the chance a person will develop a disease later in life.

Dominance Problems

  • Mendel's law of dominance states that when a dominant allele and recessive allele are present, the dominant allele masks the recessive one.
  • Incomplete dominance: The dominant allele doesn't completely mask the recessive allele, resulting in an intermediate blend of both traits in the heterozygote.
  • Codominance: Neither allele is dominant. Both alleles are fully expressed in the heterozygote.
  • Multiple alleles: There can be multiple forms of a gene at the same gene locus (location).

Heterodominance

  • Heterodominance occurs when the heterozygote exhibits a more extreme phenotype than either of the homozygous genotypes.
  • This is distinct from the typical dominant-recessive relationship.

Anticipation

  • Anticipation occurs in genetic conditions when traits or symptoms become more severe or appear at a younger age across successive generations.
  • It often correlates with trinucleotide repeat expansions.
  • Trinucleotide repeats are sequences of three DNA bases that are repeated multiple times. The number of repeats can increase and become unstable.

Spontaneous Mutation

  • Spontaneous mutation is an abrupt and heritable change in an organism's genome.
  • Not caused by a known external factor.
  • Error in DNA replication, spontaneous lesions (naturally occurring DNA damage), or transposable genetic elements can lead to spontaneous mutation.
  • Different types of spontaneous mutation include tautomeric shift, substitution mutations, and frameshift mutations

X-inactivation

  • X-inactivation (Lyonization) is a process by which one of the two X chromosomes in females is inactivated.
  • This inactivation prevents females from having twice the number of gene products encoded on the X chromosome compared to males.
  • This process occurs randomly in different cells, which leads to genetic mosaicism.

Uniparental Disomy

  • Uniparental disomy (UPD) occurs when a person inherits two copies of a chromosome (or part of a chromosome) from one parent and no copies from the other.
  • This can arise during the formation of egg or sperm cells or from early fetal development errors.
  • UPD can have a variety of potential implications including imprinting disorders, intellectual disabilities, or other health problems.

Dosage Compensation

  • Dosage compensation is a process that equalizes the expression of sex-linked genes between sexes.
  • Different species use different mechanisms to compensate for differences in the number of sex chromosomes, such as random inactivation of X chromosomes in females of some species, or changing the expression level of X chromosomes in others.

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Pedigree Analysis: Introduction PDF

Description

Explore the concepts of pedigree analysis and nonpenetrance in genetics. This quiz covers the inheritance of traits, the use of pedigrees to document biological relationships, and the conditions under which dominant traits may not manifest. It's essential for understanding genetic counseling and medical genetics.

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