Unit IV: Human Genetics

and Diseases
 Glossary of genetic terms
• Allele
An allele is the version of the gene that is present. Each person has two alleles for each gene, one from each
parent. If the alleles of a gene are the same, the person is homozygous for the gene. If the alleles are different,
the person is heterozygous for the gene.
• Chromosome
DNA is packaged into small units called chromosomes. A chromosome contains a single, long piece of DNA with
many different genes. Every human cell contains 23 pairs of chromosomes. There are 22 pairs of numbered
chromosomes, called autosomes, and one pair of sex chromosomes, which can be XX or XY. Each pair contains
two chromosomes, one from each parent, which means that children get half of their chromosomes from their
mother and half from their father.
• Copy number variation (CNV)
A copy number variation (CNV) is when the number of copies of a gene or other section of DNA is different
between people.
• DNA
Deoxyribonucleic acid (DNA) contains the genetic instructions in all living things. DNA is made up of two strands
that wind around each other and looks like a twisting ladder (a shape called a double helix). A DNA strand has
four different bases arranged in different orders. These bases are T (thymine), A (adenine), C (cytosine), and G
(guanine). DNA is “read” by the order of the bases, that is by the order of the Ts, Cs, Gs, and As. The specific order,
or sequence, of these bases determines the exact information carried in each gene (for example, instructions for
making a specific protein). DNA has the same structure in every gene and in almost all living things.
 Contd.
• DNA Methylation
DNA methylation is a chemical addition to a piece of DNA that turns it on or off.
• DNA Mutation
A mutation is a change in a DNA sequence. DNA mutations in a gene can change what
protein is made. Mutations present in the eggs and sperm (germline mutations) can be
passed on from parent to child, while mutations that occur in body cells (somatic
mutations) cannot be inherited.
• Dominant
Dominant diseases can be caused by only one copy of a gene with a DNA mutation. If
one parent has a disease, each child has a 50% chance of inheriting the mutated gene.
• Environmental Factors
Environmental factors can include exposures related to where we live as well as
behaviors such as smoking and exercise and cultural factors such as foods that we eat.
• Epigenetics
Epigenetics is the study of changes in phenotype caused by something other than
changes in the underlying DNA sequence (for example, DNA methylation).
 Contd.
• Gene
A gene is a part of DNA that carries the information needed to make a protein. People inherit one copy
of each gene from their mother and one copy from their father. The genes that a person inherits from
his or her parents can determine many things. For example, genes affect what a person will look like
and whether the person might have certain diseases.
• Gene Expression
Gene expression refers to the process of making proteins using the instructions from genes. Changes
in gene expression can affect how much of a protein is made, as well as when the protein is made.
• Genomics
Genomics refers to the study of all of the genetic material in an organism.
• Genotype
The genotype of a person is her or his genetic makeup. It can also refer to the alleles that a person has
for a specific gene.
• Metabolites
Metabolites are the chemicals that are produced by the cells in the body when they break down
sugars, fats, and proteins to make energy.
 Contd.
• Phenotype
Phenotype is how a person looks (on the outside and inside the body) due to his or her genes and the environment
(for example, having a certain eye color, being a specific blood type, or being a certain height). Phenotype also can
refer to how a person’s body functions, for example, whether he or she has a certain disease.
• Protein
A protein is made up of building blocks called amino acids. The main role of DNA is to act as the instructions for
making proteins. It is actually proteins that make up most of the structures in our bodies and perform most of life’s
functions. For example, proteins make up hair and skin. Proteins in our eyes change shape in response to light so
we can see. Proteins in our bodies break down food. Proteins are made in cells and are the major parts of cells,
which are the vital working units of all living things.
• Recessive
For recessive diseases, both copies of a gene must have the DNA mutation for a person to have one of these
diseases. If both parents have one copy of the mutated gene, each child has a 25% chance of having the disease,
even though neither parent has it. In such cases, each parent is called a carrier of the disease. They can pass the
disease on to their children, but do not have the disease themselves.
• Single nucleotide polymorphism (SNP)
Single nucleotide polymorphisms (SNPs) are changes at a single DNA base that are present among at least 1% of
people in at least one population. For example, at a given DNA location, some people will have one base (e.g.,
adenine), while other people will have a different base (e.g., guanine). The SNP that is more common among a given
group of people is called the major allele and the one that is less common is called the minor allele.
 Genetic diseases and sex linked inheritance
• Genetic Disorders
Genetic disorders can happen for many reasons. Genetic disorders often are described in
terms of the chromosome that contains the gene that is changed in people who have the
disorder. If the gene is on one of the first 22 pairs of chromosomes, called the autosomes,
the genetic disorder is called an autosomal condition. If the gene is on the X chromosome,
the disorder is called X-linked.
Genetic disorders also are grouped by how they run in families. Disorders can be dominant
or recessive, depending on how they cause conditions and how they run in families.
• Dominant
Dominant diseases can be caused by only one copy of a gene having a DNA mutation. If one
parent has the disease, each child has a 50% chance of inheriting the mutated gene.
• Recessive
For recessive diseases, both copies of a gene must have a DNA mutation in order to get one
of these diseases. If both parents have one copy of the mutated gene, each child has a 25%
chance of having the disease, even though neither parent has it. In such cases, each parent is
called a carrier of the disease. They can pass the disease on to their children, but do not have
the disease themselves.
Single Gene Disorders

• Some genetic diseases are caused by a DNA mutation in one of a person’s genes.
For example, suppose part of a gene usually has the sequence TAC. A mutation can
change the sequence to TTC in some people. This change in sequence can change
the way that the gene works, for example by changing the protein that is made.
Mutations can be passed down to a child from his or her parents. Or, they can
happen for the first time in the sperm or egg, so that the child will have the
mutation but the parents will not. Single gene disorders can be autosomal or X-
linked.
• For example, sickle cell disease is an autosomal single gene disorder. It is caused by
a mutation in a gene found on chromosome 11. Sickle cell disease causes anemia
and other complications. Fragile X syndrome, on the other hand, is an X-linked
single gene disorder. It is caused by a change in a gene on the X chromosome. It is
the most common known cause of intellectual disability and developmental
disability that can be inherited (passed from one generation to the next).
 Chromosomal Abnormalities
• Different Number of Chromosomes
People usually have 23 pairs of chromosomes. But, sometimes a person is born with a
different number. Having an extra chromosome is called trisomy. Missing a
chromosome is called monosomy.
For example, people with Down syndrome have an extra copy of chromosome 21.
This extra copy changes the body’s and brain’s normal development and causes
intellectual and physical problems for the person. Some disorders are caused by
having a different number of sex chromosomes. For example, people with 
Turner syndrome usually have only one sex chromosome, an X. Women with Turner
syndrome can have problems with growth and heart defects.
• Changes in Chromosomes
Sometimes chromosomes are incomplete or shaped differently than usual. Missing a
small part of a chromosome is called a deletion. A translocation is when part of one
chromosome has moved to another chromosome. An inversion is when part of a
chromosome has been flipped over.
Complex Conditions

• A complex disease is caused by both genetic changes and 

environmental factors. Complex diseases also are called
multifactorial. Most chronic diseases, such as heart disease,
cancer, and diabetes, are complex conditions. For example,
while some cases of cancer are associated with inherited
genetic changes, for example, Lynch syndrome and 
hereditary breast and ovarian cancer, the majority most
likely are caused by changes in several genes acting together
with environmental exposures.
 Importance of genetic counselling
• Genetic counseling gives you information about how genetic conditions might affect you or your family. 
• Reasons for Genetic Counseling
• Planning for Pregnancy: Genetic counseling before you become pregnant can address concerns about
factors that might affect your baby during infancy or childhood or your ability to become pregnant,
including
• Genetic conditions that run in your family or your partner’s family
• History of infertility, multiple miscarriages, or stillbirth
• Previous pregnancy or child affected by a birth defect or genetic condition
• Assisted Reproductive Technology (ART) options
• During Pregnancy: Genetic counseling while you are pregnant can address certain tests that may be
done during your pregnancy, any detected problems, or conditions that might affect your baby during
infancy or childhood, including
• History of infertility, multiple miscarriages, or stillbirth
• Previous pregnancy or child affected by a birth defect or genetic condition
• Abnormal test results, such as a blood test, ultrasound, Chorionic Villus Sampling (CVS), or amniocentesis
• Maternal infections, such as Cytomegalovirus (CMV), and other exposures such as medicines, drugs, chemicals, and x-
rays
• Genetic screening that is recommended for all pregnant women, which includes cystic fibrosis, sickle cell disease, and
any conditions that run in your family or your partner’s family
Contd.
• Caring for Children: Genetic counseling can address concerns if your child is showing signs
and symptoms of a disorder that might be genetic, including
• Abnormal newborn screening results
• Birth defects
• Intellectual disability or developmental disabilities
• Autism spectrum disorders (ASD)
• Vision or hearing problems
• Managing Your Health: Genetic counseling for adults includes specialty areas such as
cardiovascular, psychiatric, and cancer. Genetic counseling can be helpful if you have
symptoms of a condition or have a family history of a condition that makes you more likely to
be affected with that condition, including
• Hereditary breast and ovarian cancer (HBOC) syndrome
• Lynch syndrome (hereditary colorectal and other cancers)
• Familial hypercholesterolemia
• Muscular dystrophy and other muscle diseases
• Inherited movement disorders such as Huntington’s disease
• Inherited blood disorders such as sickle cell disease