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