Lect 14: Pedigree and Disease Risk Assessment

These flashcards cover key concepts related to pedigree analysis and disease risk assessment as discussed in the lecture.

Pedigree

A diagram that shows the occurrence of a genetic trait in several generations of a family.

Bayes' Theorem

A mathematical formula used to update the probability estimate for a hypothesis as more evidence or information becomes available.

Cystic Fibrosis (CF)

An autosomal recessive disorder characterized by the production of thick mucus that can lead to respiratory and digestive problems.

Autosomal Recessive

A type of inheritance pattern where two copies of an abnormal gene must be present for the disease or trait to develop.

Carriers

Individuals who carry one copy of a recessive allele but do not exhibit symptoms of the disorder.

Hardy-Weinberg Equation

A principle that provides a mathematical model to study genetic variation in a population that is not evolving.

Allele Frequency

The relative frequency of an allele (variant of a gene) at a genetic locus in a population.

Recurrence Risk

The likelihood that a hereditary trait or disorder present in a family member will occur again in future family members.

Mutations

Changes in the DNA sequence that can lead to genetic disorders.

Genetic Counseling

A process that aims to educate and support individuals who are at risk for genetic disorders, helping them make informed choices.

Probability

The measure of the likelihood that an event will occur, expressed as a number between 0 and 1.

Genetic Testing

Laboratory tests used to identify changes in chromosomes, genes, or proteins to assess the risk of a genetic condition.

Carrier Frequency

The proportion of a population that carries a specific allele associated with a genetic disorder.

Risk Assessment

The evaluation of an individual's risk of developing a genetic disorder based on family history and genetic testing.

Phenotype

The observable physical or biochemical characteristics of an organism, determined by both genetic makeup and environmental influences.

Genomic Testing

The use of sequencing, genotyping, and other technologies to analyze the genetic information of individuals.

Cost of Care

Financial burden associated with managing a genetic disorder, including medical treatment and support.