Chapter 6: Pedigree Analysis and Genetic Testing

These flashcards focus on key terms and definitions relevant to pedigree analysis and genetic testing.

Pedigree

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

Phenotype

The expressed traits of an organism; characteristics that can be observed.

Genotype

The genetic constitution of an individual, often represented by alleles.

Carrier

An individual who carries a recessive allele for a genetic trait but does not express it.

Consanguinity

Mating between individuals who share a recent ancestor.

Monozygotic Twins

Twins that arise from a single fertilized egg that splits into two embryos.

Dizygotic Twins

Twins that arise from two different fertilized eggs.

Autosomal Recessive Disorder

A genetic disorder where two copies of a mutated gene are necessary for the individual to express the disorder.

Autosomal Dominant Disorder

A genetic disorder where only one copy of a mutated gene is sufficient to express the disorder.

X-linked Recessive Disorder

A genetic disorder in which the mutated gene is located on the X chromosome, affecting mostly males.

X-linked Dominant Disorder

A genetic disorder where a mutated gene on the X chromosome causes the disorder in both males and females.

Y-linked Traits

Traits that are passed from father to son, inherited through the Y chromosome.

PKU (Phenylketonuria)

An autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase gene.

Genetic Architecture

The underlying genetic basis for a character or condition, including effects from dominant/recessive alleles, linkage, and multiple alleles.

Twin Studies

Research studies comparing the traits of monozygotic and dizygotic twins to understand genetic vs. environmental influences.

Prenatal Screening

Tests that assess health and genetic conditions in a fetus.

Phenotype Frequency

The frequency at which a particular phenotype appears in a population.

Allele Frequency

The proportion of a specific allele among all allele copies in a population.

Genetic Testing

The analysis of genes, chromosomes, or proteins to identify abnormalities related to genetic disorders.

Heel-stick Test

A newborn screening test used to identify certain genetic disorders, including PKU.