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Questions and Answers
What is the cytogenetic marker associated with Fragile X syndrome?
What is the cytogenetic marker associated with Fragile X syndrome?
In Fragile X syndrome, the chromatin fails to condense during mitosis due to the mutation in which gene?
In Fragile X syndrome, the chromatin fails to condense during mitosis due to the mutation in which gene?
What is the main characteristic of mitochondrial inheritance seen in diseases like hereditary optic atrophy and mitochondrial encephalomyopathy?
What is the main characteristic of mitochondrial inheritance seen in diseases like hereditary optic atrophy and mitochondrial encephalomyopathy?
Mosaicism for mutations in single genes can result in which of the following?
Mosaicism for mutations in single genes can result in which of the following?
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Which type of DNA is transmitted exclusively from mothers to their offspring?
Which type of DNA is transmitted exclusively from mothers to their offspring?
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What type of inheritance pattern is associated with the fragile X syndrome?
What type of inheritance pattern is associated with the fragile X syndrome?
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What is the range of CGG repeats in healthy individuals for the FMR1 gene?
What is the range of CGG repeats in healthy individuals for the FMR1 gene?
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When does expansion of the premutation to more than 200 CGG repeats occur in women?
When does expansion of the premutation to more than 200 CGG repeats occur in women?
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Which gender passes the premutation only to their daughters according to the text?
Which gender passes the premutation only to their daughters according to the text?
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Which gene mutation is associated with the fragile X syndrome?
Which gene mutation is associated with the fragile X syndrome?
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In the context of germline mosaicism, which genetic disorder could normal parents potentially have children with?
In the context of germline mosaicism, which genetic disorder could normal parents potentially have children with?
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Which term describes the process in which transcription occurs from only one of two alleles in a diploid cell?
Which term describes the process in which transcription occurs from only one of two alleles in a diploid cell?
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What is the phenomenon whereby only one Ig light chain and one heavy chain gene are transcribed in one cell called?
What is the phenomenon whereby only one Ig light chain and one heavy chain gene are transcribed in one cell called?
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Which process involves the random expression of a certain allele and includes mechanisms like X chromosome inactivation in females?
Which process involves the random expression of a certain allele and includes mechanisms like X chromosome inactivation in females?
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In the context of genomic imprinting, what is the assumption of Mendelian inheritance regarding the expression of alleles from both parents?
In the context of genomic imprinting, what is the assumption of Mendelian inheritance regarding the expression of alleles from both parents?
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Which statement is true regarding the genetic basis of Autism?
Which statement is true regarding the genetic basis of Autism?
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What term is used to describe the involvement of few loci in the etiology of Dyslexia and other specific learning disabilities?
What term is used to describe the involvement of few loci in the etiology of Dyslexia and other specific learning disabilities?
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Which disorder shows substantial genetic influence alongside environmental factors?
Which disorder shows substantial genetic influence alongside environmental factors?
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Family and adoption studies have shown that few loci are responsible for causing which disorder?
Family and adoption studies have shown that few loci are responsible for causing which disorder?
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What type of twins show higher concordance rates for Autism, supporting a genetic basis for the disorder?
What type of twins show higher concordance rates for Autism, supporting a genetic basis for the disorder?
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What determines the expression of the imprinted allele in a mendelian manner?
What determines the expression of the imprinted allele in a mendelian manner?
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In which syndrome is there an increased severity with maternal transmission?
In which syndrome is there an increased severity with maternal transmission?
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Which genetic disorder shows a relatively early onset when the mutant gene is inherited paternally?
Which genetic disorder shows a relatively early onset when the mutant gene is inherited paternally?
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Which of the following best describes the purpose of linkage studies in genetics?
Which of the following best describes the purpose of linkage studies in genetics?
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What characteristic defines Prader-Willi syndrome?
What characteristic defines Prader-Willi syndrome?
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What is the significance of offspring inheriting the same marker allele as the disease allele in linkage studies?
What is the significance of offspring inheriting the same marker allele as the disease allele in linkage studies?
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Which syndrome shows differences in expression depending on the sex of the transmitting parent?
Which syndrome shows differences in expression depending on the sex of the transmitting parent?
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In the context of genetic inheritance, what does 'heterogeneity' refer to?
In the context of genetic inheritance, what does 'heterogeneity' refer to?
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Which chromosome is specifically mentioned as containing susceptibility genes for schizophrenia?
Which chromosome is specifically mentioned as containing susceptibility genes for schizophrenia?
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What conclusion can be drawn from bipolar disorder linkage studies regarding its genetic basis?
What conclusion can be drawn from bipolar disorder linkage studies regarding its genetic basis?
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Which of the following genetic mutations explains a significant percentage of hypertrophic cardiomyopathy cases?
Which of the following genetic mutations explains a significant percentage of hypertrophic cardiomyopathy cases?
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What type of genetic mutation is commonly observed in cardiomyopathies within a specific family?
What type of genetic mutation is commonly observed in cardiomyopathies within a specific family?
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Which genetic disorder is characterized by the expansion of CGG repeats in the FMR1 gene?
Which genetic disorder is characterized by the expansion of CGG repeats in the FMR1 gene?
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In which type of genetic inheritance are mutations passed down through the maternal lineage?
In which type of genetic inheritance are mutations passed down through the maternal lineage?
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How many unique gene variants have been identified in dilated cardiomyopathy cases?
How many unique gene variants have been identified in dilated cardiomyopathy cases?
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Which genetic marker is commonly associated with congenital heart anomalies due to chromosomal abnormalities?
Which genetic marker is commonly associated with congenital heart anomalies due to chromosomal abnormalities?
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What factors contribute to large differences in body weight and fat distribution among individuals?
What factors contribute to large differences in body weight and fat distribution among individuals?
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'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:
'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:
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What type of genetic mutations are most commonly associated with cardiomyopathies with arrhythmias?
What type of genetic mutations are most commonly associated with cardiomyopathies with arrhythmias?
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Which chromosomal abnormality is NOT associated with congenital heart defects?
Which chromosomal abnormality is NOT associated with congenital heart defects?
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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.
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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.
