Genetics Exam Questions

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Questions and Answers

Which method can be utilized to determine if an individual is homozygous or heterozygous?

  • Back cross
  • Self-fertilization
  • Forward cross
  • Test cross (correct)

Why were pea plants chosen for Mendel's experiments?

  • They were cheap
  • They were available easily
  • They had a high mutation rate
  • They had contrasting characters (correct)

Which statement accurately reflects Mendel's law of segregation?

  • Alleles are conserved throughout gametogenesis
  • Factors remain paired during meiosis
  • Law of segregation is the law of purity of genes
  • Factors segregate due to the separation of chromosomes during meiosis (correct)

What characterizes a gene exhibiting codominance?

<p>Both alleles are independently expressed in the heterozygote (C)</p> Signup and view all the answers

What does the phenomenon of independent assortment pertain to?

<p>Transmission of traits in unlinked genes (D)</p> Signup and view all the answers

Which geometrical tool assists in determining the possible genetic combinations of gametes?

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

Which term describes a pair of contrasting traits for a genetic characteristic?

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

Which statement is correct regarding autosomal dominant inheritance?

<p>An affected individual can have an unaffected parent (B)</p> Signup and view all the answers

In which meiotic division did nondisjunction occur?

<p>Maternal meiosis I (C)</p> Signup and view all the answers

What chromosome designation indicates Klinefelter syndrome?

<p>47,XXY (A)</p> Signup and view all the answers

Which of the following is a feature associated with Turner syndrome?

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

What does the designation t(9;22)(q34;q11) refer to?

<p>A reciprocal translocation between two chromosomes (B)</p> Signup and view all the answers

Which chromosomes are known to have secondary constriction?

<p>13, 14, 15, 21 (B)</p> Signup and view all the answers

What is the correct definition of karyotyping?

<p>The arrangement of chromosomes into pairs based on size (C)</p> Signup and view all the answers

What type of chromosome alteration does the designation 46,XX, add(19)(p13) indicate?

<p>An addition on the short arm of chromosome 19 (B)</p> Signup and view all the answers

Which of the following best describes the phenomenon of secondary constriction in chromosomes?

<p>It relates to structural properties like DNA loop formation. (C)</p> Signup and view all the answers

Klinefelter syndrome is characterized by which of the following features?

<p>Increased height and infertility (D)</p> Signup and view all the answers

What does the term 'karyotyping' refer to?

<p>A technique used to visualize chromosomes (C)</p> Signup and view all the answers

Which meiotic division is most likely responsible for the occurrence of Down syndrome in the described scenario?

<p>Maternal meiosis I (B)</p> Signup and view all the answers

Which of the following structural features contributes to chromosome banding when stained?

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

What is the main role of the SRY gene in sex determination?

<p>Triggers testosterone production (D)</p> Signup and view all the answers

What type of genetic condition does the notation '46,XX,add(19)(p13)' describe?

<p>Duplication of DNA segment on chromosome 19 (C)</p> Signup and view all the answers

In the context of color blindness, which chromosome is typically mutated for protanopia?

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

What correctly distinguishes between terminal deletion and interstitial deletion in chromosomes?

<p>Location of the missing DNA segment (B)</p> Signup and view all the answers

What term describes the phenomenon when the activity of one gene is suppressed by a non-allelic gene?

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

Which genetic disorder is characterized as an autosomal recessive disorder?

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

What does a phenotypic ratio of 9:7 indicate in a genetic F2 generation?

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

In a self-fertilization of a plant with genotype AaBb, what is the probability of obtaining an AABB genotype?

<p>â…› (C)</p> Signup and view all the answers

If a genetic cross results in 500 offspring of genotype aa and 500 of other genotypes, what are the most likely genotypes of the parents?

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

In autosomal dominant inheritance, which statement is accurate concerning the inheritance of the mutant allele?

<p>Both parents of an affected person may be unaffected. (A), The phenotype does not change whether the individual is heterozygous or homozygous for the mutant allele. (C)</p> Signup and view all the answers

If a male with an X-linked dominant disorder marries a normal female, what can be predicted about their daughters?

<p>About 50% of their daughters would inherit the disease (B), All of their daughters would inherit the disease (D)</p> Signup and view all the answers

In the context of a testcross, what best characterizes the parent combinations?

<p>One individual has the dominant phenotype and the other has the recessive phenotype. (D)</p> Signup and view all the answers

Which statement about autosomal recessive inheritance is incorrect?

<p>Heterozygotes are always asymptomatic carriers. (D)</p> Signup and view all the answers

Which statement about X-linked dominant inheritance is false?

<p>Each boy born to an affected father has a significant risk of being affected. (D)</p> Signup and view all the answers

What is the chance that individual I-3 in the cystic fibrosis pedigree is a carrier?

<p>½ (D)</p> Signup and view all the answers

In which meiotic division did nondisjunction likely occur if a karyotypically normal couple has a child with trisomy 21?

<p>Maternal meiosis I (A)</p> Signup and view all the answers

Which pattern of inheritance best explains the transmission of the trait shown in the pedigree?

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

Which of the following statements regarding inheritance is true?

<p>An affected child can arise from two unaffected parents in autosomal recessive inheritance. (B)</p> Signup and view all the answers

In the context of trisomy 21, the presence of one extra chromosome results from which type of genetic error?

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

What is the chance of an unaffected child being a carrier if one parent is affected and the other is unaffected?

<p>50% (C)</p> Signup and view all the answers

Flashcards

Homozygosity/Heterozygosity Determination

Methods used to determine if an individual has two identical or two different alleles for a particular gene.

Mendel's pea plant choice

Pea plants were used by Mendel because they had easily observable contrasting traits and were readily available.

Law of Segregation

During gamete formation, alleles for each gene separate from each other, ensuring that each gamete receives only one allele.

Codominance

Both alleles of a gene are expressed in the heterozygote; neither allele is completely dominant or recessive.

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Independent Assortment

Genes for different traits are inherited independently of each other, meaning the allele inherited for one trait doesn't influence which allele is inherited for another trait.

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Punnett Square

A tool used to predict the possible genotypes and phenotypes resulting from a genetic cross.

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Allelomorphs

Alternative forms of a gene that occupy the same locus on homologous chromosomes.

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Autosomal Dominant Inheritance

A pattern where an affected person usually inherits the affected allele from one of the parents, meaning if one parent carries the mutant allele, a child has a 50% chance of inheriting it.

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Epistasis

When the activity of one gene is suppressed by the activity of a different, non-allelic gene.

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Cystic Fibrosis

An autosomal recessive disorder affecting the lungs and other organs.

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9:7 ratio (F2 generation)

A genetic ratio indicative of epistasis (interaction between genes affecting a trait).

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Mutation-selection balance

The equilibrium where the rate of appearance of a deleterious mutation is balanced by the rate of removal by natural selection.

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Probability of AaBb self-fertilization

Probability of getting an AABB genotype in self-fertilized AaBb plant (assuming independent assortment) is 1/16.

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Parents genotypes (Aa x Aa)

If half (50%) offspring are recessive (aa), the parents most likely have a heterozygous/carrier genotype (Aa).

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X-linked dominant

Condition expressed in both males and females if a gene copy of the allele is present.

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Autosomal Recessive Inheritance

A genetic condition where two copies of an abnormal gene must be present for the trait to be expressed; affected individuals usually have unaffected parents.

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X-linked Dominant Inheritance

A genetic condition where an affected gene on the X chromosome is enough to cause the trait; more females than males are typically affected.

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Carrier

A person who carries an abnormal gene but does not show symptoms of the trait.

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Nondisjunction

The failure of homologous chromosomes or sister chromatids to separate properly during meiosis.

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Trisomy 21

A genetic condition where there are three copies of chromosome 21; a common cause of Down syndrome.

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Compound Heterozygote

An individual with two different mutant alleles of a gene.

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Probability of Carrier Status

The likelihood of an individual carrying a recessive trait based on family history

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Nondisjunction in Meiosis

Failure of homologous chromosomes or sister chromatids to separate properly during meiosis, leading to abnormal chromosome numbers in gametes.

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Klinefelter Syndrome

A genetic condition resulting from an extra X chromosome (47,XXY), primarily affecting males, characterized by various physical and developmental features.

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Turner Syndrome

A genetic condition resulting from a missing or incomplete X chromosome (45,X), primarily affecting females.

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Karyotyping

The process of arranging chromosomes in pairs to visualize and analyze their structure and number.

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Reciprocal Translocation

Exchange of segments between two non-homologous chromosomes.

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Chromosome Banding

Visualizing specific patterns or bands on chromosomes to study their structure.

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Chromosome 9;22 Translocation

A reciprocal translocation between chromosome 9 and 22 that is linked to Chronic Myelogenous Leukemia (CML).

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Secondary Constriction

A specialized region on some chromosomes where the DNA is less tightly packed, often containing genes involved in cell division or chromosome function.

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t(9,22)(q34;q11)

A translocation where a piece of chromosome 9 (long arm, q34) swaps with a piece of chromosome 22 (long arm, q11). It's linked to chronic myeloid leukemia.

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46,XX, add(19)(p13)

A structural chromosome alteration where an extra piece of chromosome 19 (short arm, p13) is added to one of the chromosomes. This leads to a duplication.

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Color Blindness Chromosomes

The three types of color blindness: red (X-linked), green (X-linked), and blue (autosomal). These are caused by mutations in specific genes on their respective chromosomes.

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Inactivated X Chromosome Staining

In females, one X chromosome is randomly inactivated, becoming a Barr body. This inactivated X chromosome absorbs stain more readily due to its condensed state.

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Chromosome Banding Features

Chromosomes form bands when stained, revealing their structure. This is due to variations in DNA density, histone composition, and gene expression.

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SRY Gene Role

The SRY gene, located on the Y chromosome, is responsible for male sex determination. It triggers the development of testes and male sexual characteristics.

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Study Notes

Exam Questions and Answers

  • Section A Questions: Exam questions cover single gene disorders, polymorphism, dominant inheritance, and sex-linked recessive inheritance.
  • Question 1: Cystic fibrosis, sickle-cell disease, fragile X syndrome, and Duchenne muscular dystrophy are single-gene disorders.
  • Question 2: Biological development is not related to polymorphism.
  • Question 3: The effects of a mutant gene in dominant diseases override healthy versions; dominance and recessiveness are allele properties; single gene disorders are rare, affecting about 1% of the population.
  • Question 4: Autosomal dominant inheritance equally affects both sexes; traits usually appear in every generation.
  • Question 5: Sex-linked recessive inheritance may not be passed from father to son.

Genomic Imprinting

  • Chemical reaction that adds methyl groups to certain DNA portions during genomic imprinting is called programming.

Autosomal Recessive Inheritance

  • Traits usually affect more males and females equally.
  • Unaffected parents still carry the recessive trait.

Meiosis

  • Meiosis reduces chromosome numbers and rearranges genetic information during cell division.
  • Meiosis I separates sister centromeres.
  • Meiosis II separates maternal and paternal centromeres.

X-linked Dominant Disorder

  • Rett syndrome is listed as an X-linked dominant disorder.
  • Other X-linked disorders exist and are important factors to note in medical genetics.

Sex Chromosomes

  • Differential regions are counterparts on the other sex chromosome.
  • Other aspects of sex chromosomes and sex-linked inheritance should be reviewed for an accurate understanding of the topic.

Genetic Disorders

  • The quiz contained multiple-choice and short-answer questions on various genetic disorders.
  • The questions covered different types of inheritance patterns and the associated traits.

Pedigree Analysis

  • Pedigree diagrams are used for analysis of inheritance patterns.
  • The symbols used in the diagrams (e.g., circle for female and square for male, shaded for affected individuals) are essential aspects of pedigree analysis.

Genetic Testing Methods

  • Various methods for detecting genetic disorders (e.g., pedigree analysis, karyotyping, and molecular genetic tests) are included in the quiz material.

Human Genetics

  • General knowledge regarding human genetics
  • Types of genetic disorders
  • Specific examples of diseases and inheritance patterns

Additional Information

  • More questions are present in sections covering Mendelian inheritance, chromosomal abnormalities, and other genetic concepts.
  • The quiz contains different types of genetic disorders, modes of inheritance, and associated features of particular disorders.

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