Human Genetics and Pedigree Analysis

These flashcards cover key vocabulary and concepts related to human genetics and pedigree analysis, focusing on mutations, inheritance patterns, and their implications for health.

Pedigree Analysis

A genetic tool used to map mutations and understand inheritance patterns.

Polymorphic Marker

A genetic marker that shows variation among individuals in a population, used to link traits and mutations.

Recombination Frequency (RF)

The proportion of recombinant offspring among the total offspring, used to estimate the distance between markers on a chromosome.

Centimorgan (cM)

A unit of measure for genetic linkage; 1 cM corresponds to a 1% chance of recombination occurring between two markers.

Missense Mutation

A type of mutation that results in a single amino acid change in a protein, potentially affecting its function.

Nonsense Mutation

A mutation that introduces a premature stop codon in the protein sequence, leading to truncated proteins.

Haplotypes

A combination of alleles or a group of genes that are inherited together from a single parent.

Autosomal Dominant

A pattern of inheritance in which only one copy of a mutated gene is sufficient to cause a disease.

LDL (Low-Density Lipoprotein)

A type of cholesterol that, when elevated, can increase the risk of cardiovascular disease.

Hypercholesterolemia

A condition characterized by very high levels of cholesterol in the blood, which may be genetic.

Linkage Analysis

A genetic method used to map the location of genes on chromosomes by studying the inheritance of traits in families.

Genotypes

The genetic constitution of an individual, often in relation to a specific trait.

Allele

One of two or more variants of a gene that arise by mutation and are found at the same place on a chromosome.

Trait

A characteristic or feature of an organism, which can be influenced by genetics.

Polydactyly

A genetic condition characterized by the presence of extra fingers or toes, commonly inherited in an autosomal dominant manner.

Variations in PCSK9

Mutations in the PCSK9 gene that can lead to variations in LDL cholesterol levels.

Correlations in Genetics

Associations between genetic factors and traits or diseases; important for understanding genetic disorders.

LDL Receptor

A protein that helps clear LDL cholesterol from the bloodstream; its function is influenced by PCSK9.

Cardiovascular Disease

A class of diseases that involve the heart or blood vessels, often influenced by cholesterol levels.