Recent

  • Show all results for ""

🎧 New: AI-Generated Podcasts Turn your study notes into engaging audio conversations. Learn more

Genomic Imprinting Quiz
40 Questions
1 Views

Genomic Imprinting Quiz

Created by
@AgileOphicleide

Podcast Beta

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the cytogenetic marker associated with Fragile X syndrome?

  • Xq21.2
  • Xq27.3 (correct)
  • Xp11.4
  • Xp24.1

    • In Fragile X syndrome, the chromatin fails to condense during mitosis due to the mutation in which gene?

  • MYH7 gene
  • BRCA1 gene
  • SMN1 gene
  • FMR1 gene (correct)

    • What is the main characteristic of mitochondrial inheritance seen in diseases like hereditary optic atrophy and mitochondrial encephalomyopathy?

  • Autosomal dominant inheritance
  • Paternal inheritance
  • Autosomal recessive inheritance
  • Maternal inheritance (correct)

    • Mosaicism for mutations in single genes can result in which of the following?

    <p>Somatic mosaicism</p> Signup and view all the answers

    Which type of DNA is transmitted exclusively from mothers to their offspring?

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

    What type of inheritance pattern is associated with the fragile X syndrome?

    <p>X-linked dominant</p> Signup and view all the answers

    What is the range of CGG repeats in healthy individuals for the FMR1 gene?

    <p>5 to 40</p> Signup and view all the answers

    When does expansion of the premutation to more than 200 CGG repeats occur in women?

    <p>During oogenesis</p> Signup and view all the answers

    Which gender passes the premutation only to their daughters according to the text?

    <p>Men</p> Signup and view all the answers

    Which gene mutation is associated with the fragile X syndrome?

    <p>FMR1 gene mutation</p> Signup and view all the answers

    In the context of germline mosaicism, which genetic disorder could normal parents potentially have children with?

    <p>Fragile X syndrome</p> Signup and view all the answers

    Which term describes the process in which transcription occurs from only one of two alleles in a diploid cell?

    <p>Monoallelic gene expression</p> Signup and view all the answers

    What is the phenomenon whereby only one Ig light chain and one heavy chain gene are transcribed in one cell called?

    <p>Monoallelic gene expression</p> Signup and view all the answers

    Which process involves the random expression of a certain allele and includes mechanisms like X chromosome inactivation in females?

    <p>Genomic imprinting</p> Signup and view all the answers

    In the context of genomic imprinting, what is the assumption of Mendelian inheritance regarding the expression of alleles from both parents?

    <p>They are equally expressed</p> Signup and view all the answers

    Which statement is true regarding the genetic basis of Autism?

    <p>Linkage analysis revealed that many loci are involved in the etiology.</p> Signup and view all the answers

    What term is used to describe the involvement of few loci in the etiology of Dyslexia and other specific learning disabilities?

    <p>Oligogenic</p> Signup and view all the answers

    Which disorder shows substantial genetic influence alongside environmental factors?

    <p>Attention deficit and hyperactivity disorder</p> Signup and view all the answers

    Family and adoption studies have shown that few loci are responsible for causing which disorder?

    <p>Addiction</p> Signup and view all the answers

    What type of twins show higher concordance rates for Autism, supporting a genetic basis for the disorder?

    <p>Monozygotic twins</p> Signup and view all the answers

    What determines the expression of the imprinted allele in a mendelian manner?

    <p>The gender of the transmitting parent</p> Signup and view all the answers

    In which syndrome is there an increased severity with maternal transmission?

    <p>Fragile X syndrome</p> Signup and view all the answers

    Which genetic disorder shows a relatively early onset when the mutant gene is inherited paternally?

    <p>Miotonic dystrophy</p> Signup and view all the answers

    Which of the following best describes the purpose of linkage studies in genetics?

    <p>Determining the chromosomal location of disease genes</p> Signup and view all the answers

    What characteristic defines Prader-Willi syndrome?

    <p>Mental retardation and hypogonadism</p> Signup and view all the answers

    What is the significance of offspring inheriting the same marker allele as the disease allele in linkage studies?

    <p>It provides evidence for genetic linkage between a marker locus and a disease gene</p> Signup and view all the answers

    Which syndrome shows differences in expression depending on the sex of the transmitting parent?

    <p>Prader-Willi syndrome</p> Signup and view all the answers

    In the context of genetic inheritance, what does 'heterogeneity' refer to?

    <p>The presence of multiple genetic forms underlying a disorder</p> Signup and view all the answers

    Which chromosome is specifically mentioned as containing susceptibility genes for schizophrenia?

    <p>Chromosome 2q</p> Signup and view all the answers

    What conclusion can be drawn from bipolar disorder linkage studies regarding its genetic basis?

    <p>Bipolar disorder results from multiple genetic loci acting together</p> Signup and view all the answers

    Which of the following genetic mutations explains a significant percentage of hypertrophic cardiomyopathy cases?

    <p>Mutations in the MYH7 gene</p> Signup and view all the answers

    What type of genetic mutation is commonly observed in cardiomyopathies within a specific family?

    <p>Rare mutations or variants</p> Signup and view all the answers

    Which genetic disorder is characterized by the expansion of CGG repeats in the FMR1 gene?

    <p>Fragile X syndrome</p> Signup and view all the answers

    In which type of genetic inheritance are mutations passed down through the maternal lineage?

    <p>Mitochondrial inheritance</p> Signup and view all the answers

    How many unique gene variants have been identified in dilated cardiomyopathy cases?

    <p>Over 50</p> Signup and view all the answers

    Which genetic marker is commonly associated with congenital heart anomalies due to chromosomal abnormalities?

    <p>Trisomy 21</p> Signup and view all the answers

    What factors contribute to large differences in body weight and fat distribution among individuals?

    <p>Genetic factors and environment</p> Signup and view all the answers

    'Two recent studies of body weight in monozygotic twins (MZ) demonstrate the twin method of assessing the relative importance of genes and environment in obesity.' This statement implies that:

    <p>'Both genes and environment play a role in obesity.'</p> Signup and view all the answers

    What type of genetic mutations are most commonly associated with cardiomyopathies with arrhythmias?

    <p>MYBPC3 gene mutations</p> Signup and view all the answers

    Which chromosomal abnormality is NOT associated with congenital heart defects?

    <p>Turner Syndrome</p> Signup and view all the answers

    Study Notes

    Cytogenetics and Inheritance

    • The cytogenetic marker associated with Fragile X syndrome is expansion of CGG repeats in the FMR1 gene.
    • In Fragile X syndrome, chromatin fails to condense during mitosis due to a mutation in the FMR1 gene.
    • Fragile X syndrome is associated with an X-linked dominant inheritance pattern.

    Mitochondrial Inheritance

    • Mitochondrial inheritance is characterized by the transmission of genetic traits exclusively from mothers to their offspring.
    • Mitochondrial diseases, such as hereditary optic atrophy and mitochondrial encephalomyopathy, exhibit a maternal inheritance pattern.

    Mosaicism and Mutations

    • Mosaicism for mutations in single genes can result in normal parents having children with genetic disorders.
    • Germline mosaicism can lead to normal parents having children with Fragile X syndrome.
    • The process of transcription occurring from only one of two alleles in a diploid cell is called allelic exclusion.

    Genetic Inheritance

    • Allelic exclusion is the phenomenon where only one Ig light chain and one heavy chain gene are transcribed in one cell.
    • The random expression of a certain allele, including mechanisms like X chromosome inactivation in females, is described as epigenetic inheritance.
    • Genomic imprinting assumes that the expression of alleles from both parents follows a Mendelian pattern.
    • The genetic basis of Autism is complex, involving multiple genetic and environmental factors.

    Genetic Disorders

    • Dyslexia and other specific learning disabilities show a substantial genetic influence, with few loci involved in their etiology.
    • Family and adoption studies have shown that few loci are responsible for causing Dyslexia and other specific learning disabilities.
    • Autism shows a higher concordance rate in monozygotic twins, supporting a genetic basis for the disorder.
    • Prader-Willi syndrome is characterized by an increased severity with maternal transmission.
    • Hypertrophic cardiomyopathy is often caused by point mutations in the MYBPC3 gene.

    Linkage Studies

    • Linkage studies aim to identify genetic markers associated with specific diseases.
    • The significance of offspring inheriting the same marker allele as the disease allele in linkage studies is that it indicates a potential genetic link to the disease.

    Genetic Heterogeneity

    • Heterogeneity refers to the presence of different genetic mutations or mechanisms leading to the same disease or phenotype.
    • Chromosome 6 is specifically mentioned as containing susceptibility genes for schizophrenia.
    • Bipolar disorder linkage studies suggest a complex genetic basis involving multiple genetic and environmental factors.

    Cardiomyopathies

    • Cardiomyopathies are often associated with genetic mutations, including point mutations, deletions, and insertions.
    • Familial dilated cardiomyopathy is characterized by the presence of unique gene variants.
    • The 22q11.2 deletion is a common genetic marker associated with congenital heart anomalies due to chromosomal abnormalities.

    Obesity and Genetics

    • Genetic factors contribute to large differences in body weight and fat distribution among individuals.
    • Twin studies, such as the twin method, assess the relative importance of genes and environment in obesity.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Related Documents

    08_lecture.pdf.pdf

    Description

    Test your knowledge on genomic imprinting, a phenomenon where the expression of an allele depends on its parent of origin due to differences in DNA methylation. Explore how genetic disorders can exhibit different phenotypes based on whether they are inherited from the father or mother.

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser