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Questions and Answers
What is a characteristic feature of chimerism in humans?
What is a characteristic feature of chimerism in humans?
- Fusion of two zygotes forms a single embryo (correct)
- A single fertilized egg develops into a mosaic individual
- A mutation in a single gene causes a gain of function
- A duplication of a gene leads to a new function
How is chimerism typically proven?
How is chimerism typically proven?
- Through the identification of a specific cell surface receptor
- Through the presence of a single mutation in a regulatory sequence
- By the presence of too many parental alleles at several loci (correct)
- By a gain of function mutation in a specific gene
What is the distinguishing feature of XX/XY chimerism?
What is the distinguishing feature of XX/XY chimerism?
- A duplication of a gene leading to a new function
- The presence of both XX and XY cells in the same individual (correct)
- A mutation in a regulatory sequence causing a gain of function
- A specific inherited neurological disorder
What is the result of the fusion of two embryos after in vitro fertilization?
What is the result of the fusion of two embryos after in vitro fertilization?
What is the term for the colonization of one twin by cells from a non-identical co-twin?
What is the term for the colonization of one twin by cells from a non-identical co-twin?
What is the term for the mixing of two cell lines, one XX and one XY, in a single individual?
What is the term for the mixing of two cell lines, one XX and one XY, in a single individual?
What is the likely consequence of a gain of function mutation in a cell surface receptor?
What is the likely consequence of a gain of function mutation in a cell surface receptor?
What is the underlying genetic mechanism leading to Jansen's disease?
What is the underlying genetic mechanism leading to Jansen's disease?
What is the consequence of duplication of the PMP22 gene?
What is the consequence of duplication of the PMP22 gene?
Which of the following is NOT a characteristic of trinucleotide repeat expansions?
Which of the following is NOT a characteristic of trinucleotide repeat expansions?
What is the mechanism by which a mutation in a cell surface receptor can lead to a gain of function?
What is the mechanism by which a mutation in a cell surface receptor can lead to a gain of function?
What is the name of the inherited disorder caused by a trinucleotide repeat expansion in the Huntingtin gene?
What is the name of the inherited disorder caused by a trinucleotide repeat expansion in the Huntingtin gene?
What is the characteristic of a locus with paternal expression and maternal silencing?
What is the characteristic of a locus with paternal expression and maternal silencing?
What is the term for the presence of two or more genetically different sets of cells in an individual's body?
What is the term for the presence of two or more genetically different sets of cells in an individual's body?
What type of mutation is NOT associated with the syndromes mentioned in the text?
What type of mutation is NOT associated with the syndromes mentioned in the text?
What is the characteristic of an individual with Mosaic Down syndrome?
What is the characteristic of an individual with Mosaic Down syndrome?
What is the normal range of repetition of the sequence 5’-CAG-3’ in the HD gene?
What is the normal range of repetition of the sequence 5’-CAG-3’ in the HD gene?
What is the effect of the expansion of the CAG repeat in Huntington’s disease?
What is the effect of the expansion of the CAG repeat in Huntington’s disease?
What is the role of the HD protein in the nerve cells of the brain?
What is the role of the HD protein in the nerve cells of the brain?
What is a characteristic of dominant inherited diseases?
What is a characteristic of dominant inherited diseases?
What is a characteristic of Huntington’s disease?
What is a characteristic of Huntington’s disease?
Why do many dominant inherited diseases have incomplete penetrance or delayed onset?
Why do many dominant inherited diseases have incomplete penetrance or delayed onset?
What is an example of a dominant inherited disease?
What is an example of a dominant inherited disease?
What is the result of the expansion of the CAG repeat in the Huntingtin gene?
What is the result of the expansion of the CAG repeat in the Huntingtin gene?
What is the term used to describe traits that are influenced by multiple genes?
What is the term used to describe traits that are influenced by multiple genes?
What is the leading cause of death worldwide?
What is the leading cause of death worldwide?
What is the most common underlying cause of heart disease?
What is the most common underlying cause of heart disease?
What is atherosclerosis?
What is atherosclerosis?
What is a common consequence of atherosclerosis in the arteries that supply blood to the brain?
What is a common consequence of atherosclerosis in the arteries that supply blood to the brain?
What is a risk factor for coronary artery disease?
What is a risk factor for coronary artery disease?
What is the result of inadequate supply of oxygen to the heart tissue?
What is the result of inadequate supply of oxygen to the heart tissue?
What is the term used to describe traits that are influenced by multiple genes and environmental factors?
What is the term used to describe traits that are influenced by multiple genes and environmental factors?
What determines the threshold for phenotypic expression of mitochondrial gene mutations?
What determines the threshold for phenotypic expression of mitochondrial gene mutations?
Which tissue has considerable energy requirements and is highly susceptible to mitochondrial gene mutations?
Which tissue has considerable energy requirements and is highly susceptible to mitochondrial gene mutations?
What is the incidence of mitochondrial disorders in live births?
What is the incidence of mitochondrial disorders in live births?
What is an indication of a non-Mendelian process in mitochondrial genetics?
What is an indication of a non-Mendelian process in mitochondrial genetics?
What is a biological consequence of mitochondrial mutations?
What is a biological consequence of mitochondrial mutations?
Why are cells with low energy requirements less affected by homoplasmy for mutant mitochondrial DNA?
Why are cells with low energy requirements less affected by homoplasmy for mutant mitochondrial DNA?
What is the result of the combination of mitochondrial mutations and high energy requirements?
What is the result of the combination of mitochondrial mutations and high energy requirements?
Which organs are highly susceptible to mitochondrial gene mutations due to their high energy requirements?
Which organs are highly susceptible to mitochondrial gene mutations due to their high energy requirements?
What is the chromosome associated with Prader-Willi and Angelman syndromes?
What is the chromosome associated with Prader-Willi and Angelman syndromes?
What is the term for the presence of two or more cell types or lines in an individual, resulting from an error during mitosis?
What is the term for the presence of two or more cell types or lines in an individual, resulting from an error during mitosis?
What is a characteristic of a person with Mosaicism?
What is a characteristic of a person with Mosaicism?
Which of the following syndromes is associated with paternal deletion and obesity?
Which of the following syndromes is associated with paternal deletion and obesity?
What is the role of genomic imprinting in the inheritance of certain syndromes?
What is the role of genomic imprinting in the inheritance of certain syndromes?
How many human genes are known to be imprinted?
How many human genes are known to be imprinted?
What is the characteristic of Angelman syndrome?
What is the characteristic of Angelman syndrome?
What is the result of mosaicism in an individual?
What is the result of mosaicism in an individual?
What is the main difference between a chimera and a mosaic?
What is the main difference between a chimera and a mosaic?
What is the result of limited colonization of one twin by cells from a non-identical co-twin?
What is the result of limited colonization of one twin by cells from a non-identical co-twin?
How do blood-grouping centers occasionally discover chimeras?
How do blood-grouping centers occasionally discover chimeras?
What is the term for the fusion of two embryos after in vitro fertilization?
What is the term for the fusion of two embryos after in vitro fertilization?
What is the characteristic of the 46,XY/46,XX boy described in the study by Strain et al.?
What is the characteristic of the 46,XY/46,XX boy described in the study by Strain et al.?
What is the main difference between a chimera and a Greek mythological creature?
What is the main difference between a chimera and a Greek mythological creature?
What is a chimera in Greek mythology?
What is a chimera in Greek mythology?
What is the result of fusion of two zygotes to form a single embryo?
What is the result of fusion of two zygotes to form a single embryo?
What is a characteristic of an XX/XY chimera?
What is a characteristic of an XX/XY chimera?
What is the name of the study that described a 46,XY/46,XX boy?
What is the name of the study that described a 46,XY/46,XX boy?
What is the result of in vitro fertilization in which three embryos were transferred into the mother’s uterus?
What is the result of in vitro fertilization in which three embryos were transferred into the mother’s uterus?
What is the term used to describe the colonization of one twin by cells from a non-identical co-twin?
What is the term used to describe the colonization of one twin by cells from a non-identical co-twin?
What is the term used to describe a single embryo that develops from the fusion of two zygotes?
What is the term used to describe a single embryo that develops from the fusion of two zygotes?
What is a characteristic of blood-grouping centers?
What is a characteristic of blood-grouping centers?
What is the most favored explanation for families with autosomal dominant disorders where parents are phenotypically normal but their children are affected?
What is the most favored explanation for families with autosomal dominant disorders where parents are phenotypically normal but their children are affected?
Which of the following disorders is an example of an X-linked recessive disorder?
Which of the following disorders is an example of an X-linked recessive disorder?
What is the term for the presence of two or more genetically different sets of cells in an individual's body?
What is the term for the presence of two or more genetically different sets of cells in an individual's body?
What is the characteristic of families with X-linked recessive disorders where parents are phenotypically normal but their children are affected?
What is the characteristic of families with X-linked recessive disorders where parents are phenotypically normal but their children are affected?
What is a characteristic feature of Bardet-Biedl syndrome (BBS)?
What is a characteristic feature of Bardet-Biedl syndrome (BBS)?
What is the minimum number of mutant alleles required to give rise to the BBS phenotype in some cases?
What is the minimum number of mutant alleles required to give rise to the BBS phenotype in some cases?
Which of the following is NOT a clinical feature of Bardet-Biedl syndrome (BBS)?
Which of the following is NOT a clinical feature of Bardet-Biedl syndrome (BBS)?
What is the pattern of inheritance of Bardet-Biedl syndrome (BBS)?
What is the pattern of inheritance of Bardet-Biedl syndrome (BBS)?
How many loci have been identified for Bardet-Biedl syndrome?
How many loci have been identified for Bardet-Biedl syndrome?
What is a characteristic of Bardet-Biedl syndrome?
What is a characteristic of Bardet-Biedl syndrome?
What is required to give rise to the Bardet-Biedl syndrome phenotype in some cases?
What is required to give rise to the Bardet-Biedl syndrome phenotype in some cases?
What is the term for Bardet-Biedl syndrome?
What is the term for Bardet-Biedl syndrome?
What are the possible consequences of having multiple mutant alleles at the BBS2 and BBS6 loci?
What are the possible consequences of having multiple mutant alleles at the BBS2 and BBS6 loci?
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Study Notes
• Multifactorial diseases are caused by the combined effects of multiple genes and environmental factors, and include heart disease, which is the leading cause of death worldwide, accounting for approximately 25% of all deaths in the United States.
• Heart disease is often caused by coronary artery disease (CAD), which is a result of atherosclerosis, a narrowing of the coronary arteries due to the formation of lipid-laden lesions, impeding blood flow to the heart and potentially leading to a myocardial infarction.
• Risk factors for CAD include obesity, cigarette smoking, hypertension, elevated cholesterol levels, and a positive family history, usually defined as having one or more affected first-degree relatives.
• Genomic imprinting is a phenomenon where the expression of a gene depends on its parental origin, with at least 80 human genes known to be imprinted, including those involved in Prader-Willi and Angelman syndromes, and Beckwith-Wiedemann and Russell-Silver syndromes.
• Mosaicism occurs when an individual or a particular tissue consists of more than one cell type or line, resulting from an error during mitosis, and can account for unusual patterns of inheritance or phenotypic features in an affected individual.
• Huntington's disease is a dominant inherited disease caused by an expansion of a repeat sequence in the HD gene, leading to a loss of function of the HD protein, which is thought to act within the nerve cells of the brain.
• Mitochondrial diseases are caused by mutations in mitochondrial DNA and can result in a range of symptoms, including myopathy, cardiomyopathy, dementia, and loss of cerebral blood supply, with an incidence of about 1 in 10,000 live births.
• Chimerism is a rare phenomenon where a single individual is composed of cells from two or more fertilized eggs, which can be detected by the presence of multiple parental alleles at several loci.
• A chimera can result from the fusion of two zygotes to form a single embryo, or the colonization of one twin by cells from a non-identical co-twin, and can be proven by karyotyping of peripheral-blood lymphocytes.
• Cystic fibrosis is an autosomal recessive disorder affecting approximately 8000 people in the UK and 30,000 in the USA, caused by any one of 1400 different mutations, which can affect the body's cells, tissues, and glands, leading to faulty mucus and sweat production.
• Bardet-Biedl syndrome is a multifactorial disease that is thought to be caused by the combined effects of multiple genes, with at least 12 different genes implicated in the disorder.
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