Elements of Formal Genetics
Two genes at the same locus on both chromosomes are not identical
What is Heterozygous?
an autosomal dominant condition that affects the nervous system. This disorder causes progressive dementia and increasingly uncontrolled limb movement, with the onset typically around 40 years old.
What is Huntingtons Disease?
an individual’s genetic makeup
What is a Genotype?
The ___ gene is expressed only when it is present in two copies.
What is Recessive?
This term refers to the mating of two related individuals.
What is Consanguinity?
Two genes on the same locus on both chromosomes are identical
What is Homozygous?
A genetic disorder affecting connective tissue shows variable expressivity in skeletal features, cardiovascular issues, ocular symptoms, and more.
What is Marfans syndrome?
The outward appearance of an individual
What is a Phenotype?
The recurrence risk for autosomal dominant diseases is ___ %
What is 50%
X-linked genes are those that are located on the X chromosome. Nearly all known X-linked diseases are caused by X-linked _____ genes.
What is Recessive?
different forms of genes located at the same locus on the chromosome.
What is Alleles?
The autosomal recessive condition affects the way chloride ions are transported in the body, which throws off balance and causes thick, sticky mucus to build up.
What is Cystic Fibrosis?
single genes, each of which occupies a position, or locus, on a chromosome.
What is Mendelian Traits?
Males and females are equally likely to be affected by autosomal ____ diseases.
Recessive
____ are more likely to be affected by X-linked recessive disorders.
What is Males?
In this inheritance pattern, a dominant allele masks the effect of a recessive allele in heterozygous individuals.
What is complete dominance?
This X-linked recessive disorder primarily affects males and is characterized by progressive muscle weakness and degeneration.
What is Duchenne muscular dystrophy?
A gene that is not always expressed phenotypically is said to have
What is Incomplete Penetrance?
In a cross between a homozygous dominant individual and a homozygous recessive individual, this is the expected genotype ratio of the offspring.
What is 100% heterozygous?
In X-linked recessive inheritance, Males need how many copies of the gene to express the disease
What is one copy?
This tool is used to predict the probability of offspring inheriting particular traits based on the parental genotypes.
What is a Punnett square?
This genetic condition, caused by an extra copy of chromosome 21, is characterized by developmental delays, distinct facial features, and an increased risk of certain health issues.
What is Down syndrome?
In a Punnett square, this symbol is used to represent a dominant allele, while this symbol represents a recessive allele.
What are uppercase letters and lowercase letters?
When two different alleles are present in an individual, this term describes the situation where both alleles contribute to the phenotype without one being completely dominant over the other.
What is codominance?
An x-linked recessive inheritance disease caused by a deficiency of factor VIII. It is the most common form accounting for about 80% of cases.
What is Hemophilia A?