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What is a frame shift mutation and what can cause it?
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Insertions or deletions that alter the reading frame of a gene.
Give two examples of autosomal recessive disorders.
Cystic fibrosis and Sickle cell anemia.
Which type of mutation typically causes cystic fibrosis?
Deletion of three bases.
What is the significance of dominant negative mutations?
The mutant gene product interferes with the function of the normal protein, e.g., certain forms of Osteogenesis Imperfecta.
What is the impact of loss of function mutations?
They result in a reduced or absence of normal function, e.g., cystic fibrosis.
What differentiates X-linked dominant disorders from X-linked recessive disorders?
X-linked dominant disorders can affect both males and females, but females are affected more frequently due to having two X chromosomes.
What is the difference between an insertion and a deletion mutation?
Insertion is the addition of a DNA segment; deletion is the loss of a DNA segment.
How do autosomal recessive disorders typically appear in pedigrees?
They often appear in consanguineous relationships, with parents typically being unaffected carriers.
What are the three main classifications of genetic disorders?
Single-Gene Disorders, Complex Disorders, Chromosomal Disorders.
What role does pedigree analysis play in genetic counseling?
It helps determine inheritance patterns and the likelihood of offspring being affected by genetic disorders.
What is a ring chromosome?
A chromosome segment breaks off and forms a ring.
What characterizes an autosomal dominant disorder?
Manifest in the heterozygous state, affects both genders equally, and usually one affected parent results in a 50% chance of disease transmission to offspring.
Give an example of a genetic disorder resulting from a gain-of-function mutation.
Huntington's disease.
What is complex inheritance and how is it distinct from single-gene disorders?
Complex inheritance involves multiple genes and environmental factors, unlike single-gene disorders which are caused by mutations in a single gene.
What is the significance of genetic counseling in managing genetic disorders?
It aids in understanding and managing risks associated with genetic disorders, offering guidance on potential outcomes and decisions.
What happens in a chromosomal translocation?
Part of a chromosome breaks off and attaches to another chromosome.
What are the newer applications of genetics in medicine mentioned?
Predictive testing, prenatal diagnosis, and personalized medicine.
Describe a trinucleotide repeat expansion and provide an example of a disease it causes.
A repeated sequence of three nucleotides that can lead to diseases such as Huntington's disease.
Describe a point mutation and provide an example.
A change in a single DNA base pair. Example: Sickle cell anemia caused by substitution.
What are the characteristics of X-linked recessive disorders?
Manifest primarily in males due to having one X chromosome; females are typically carriers.
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