Human Genetics and Inheritance Patterns

These flashcards are designed to help students review key concepts related to human genetics, inheritance patterns, and genetic disorders.

DISEASE is defined as __.

a disorder of structure or function in an organism that produces specific signs or symptoms.

An __ disease is caused by pathogenic microorganisms and can be spread from one person to another.

infectious

A __ is transmitted through generations in the gametes.

familial

A __ anomaly refers to a wrong number of chromosomes.

chromosome

A __ disease or defect has the right number of chromosomes but the gene is defective and cannot make the correct protein.

genetic

A __ is a set of symptoms that suggest a particular disease.

syndrome

A disorder refers to something that is __.

not working right

Hereditary traits are those that are __ from parents.

derived

A __ defect is present at birth but is not genetically determined.

congenital

Mendel studied __ traits in pea plants that sorted independently.

7

Blood type A blood individuals have __ surface proteins.

A

The ABO blood system has __ alleles.

3

In multiple allele traits, a person can carry only __ alleles for a gene due to chromosomes existing in pairs.

2

Pleiotropy occurs when one gene influences __ phenotypic traits.

two or more seemingly unrelated

Polygenic traits are controlled by __ genes at different locations on different chromosomes.

two or more

A __ is an organized profile of a person's chromosomes.

karyotype

A __ is a person who has one recessive allele for a trait and one dominant allele.

carrier

Males affected by X-linked conditions are referred to as __ since they have no second X chromosome with a healthy copy of the gene.

hemizygous

The two modes of inheritance include and .

autosomal and sex-linked

Most genetic disorders are caused by __ changes in the DNA of genes.

mutations

Chromosomal disorders can occur due to an extra copy of a chromosome, such as in __ syndrome.

Down

In males, a colorblind phenotype is more common because they are affected by any X-linked condition since they only have __ X chromosome(s).

one

A female can be colorblind if her father is colorblind and her mother is at least a __.

carrier

Duchenne muscular dystrophy is more common in males because it is inherited as an __ recessive trait.

X-linked

Turner’s syndrome is characterized by only one __ chromosome present in females.

X

Achondroplasia results from a mutation on chromosome number __.

4

Sickle-cell disease affects hemoglobin and can cause red blood cells to become __ and inflexible.

sickle-shaped

The __ carrier advantage can protect against diseases like malaria.

heterozygote

Huntington's disease typically presents symptoms around age __.

40

Color blindness can be tested using simple patterns where individuals see differing numbers, revealing whether they have normal vision or color blindness. What number is typically seen by individuals with normal vision?

5

The wild type allele is the most common phenotype within a __ population.

natural