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What are genetic disorders?
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Genetic disorders are diseases caused by abnormalities in an individual's DNA, which can be inherited from parents or result from new mutations.
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How are genetic disorders categorized?
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Genetic disorders are categorized into three main types: single-gene disorders, chromosomal disorders, and multifactorial disorders.
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What is the role of genes in genetic disorders?
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Genes provide the instructions for building and maintaining the human body, and mutations in these genes can lead to disorders.
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What is a chromosomal disorder?
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A chromosomal disorder arises from structural changes or an abnormal number of copies of chromosomes.
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What is the difference between inherited and de novo genetic mutations?
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Inherited mutations are passed from parent to child, while de novo mutations occur spontaneously in the child.
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What is cystic fibrosis?
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Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, impacting the respiratory and digestive systems.
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What is the significance of pedigree analysis in genetics?
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Pedigree analysis helps trace the inheritance patterns and predict the risk of genetic disorders in families.
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What is Down syndrome?
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Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21, also known as trisomy 21.
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Which genetic disorder is associated with a mutation in the Huntington gene?
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Huntington's disease is associated with mutations in the huntingtin gene, leading to neurological decline.
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What distinguishes autosomal dominant from autosomal recessive disorders?
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Autosomal dominant disorders require only one mutated gene from either parent to manifest, while recessive disorders need two copies, one from each parent.
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What role do environmental factors play in multifactorial disorders?
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Environmental factors, along with genetic predispositions, influence the development of multifactorial disorders.
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What is genetic counseling?
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Genetic counseling is the process of advising individuals and families about the risks, implications, and nature of genetic disorders.
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How does genetic testing work?
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Genetic testing involves analyzing DNA to detect mutations that may cause genetic disorders.
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What is noninvasive prenatal testing (NIPT)?
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NIPT is a screening method used to detect chromosomal abnormalities in a developing fetus by analyzing cfDNA from maternal blood.
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What is gene therapy, and how is it used to treat genetic disorders?
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Gene therapy involves introducing, removing, or altering genetic material within a patient's cells to treat or prevent diseases.
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