Key Terms

Term. Meaning
Pedigree Chart that shows the
presence or absence of a trait
within a family across generations
Genotype. The genetic makeup of an
organism (ex: TT)
Phenotype. The physical characteristics
of an organism (ex: tall)
Dominant allele Allele that is phenotypically
expressed over another
allele
Recessive allele Allele that is only expressed
in absence of a dominant allele
Autosomal trait Trait that is located on an
autosome (non-sex
chromosome)
Sex-linked trait Trait that is located on one of
the two sex chromosomes
Homozygous. Having two identical alleles
for a particular gene
Heterozygous Having two different alleles for
a particular gene
Pedigrees

Pedigrees are used to analyze the pattern of inheritance of a

particular trait throughout a family. Pedigrees show the presence
or absence of a trait as it relates to the relationship among parents,
offspring, and siblings.

Reading a pedigree

Common pedigree symbols.

Pedigrees represent family members and relationships using

standardized symbols.
By analyzing a pedigree, we can determine genotypes, identify
phenotypes, and predict how a trait will be passed on in the future.
The information from a pedigree makes it possible to determine
how certain alleles are inherited: whether they are dominant,
recessive, autosomal, or sex-linked.

To start reading a pedigree:

1) Determine whether the trait is dominant or recessive. If the trait

is dominant, one of the parents must have the trait. Dominant traits
will not skip a generation. If the trait is recessive, neither parent is
required to have the trait since they can be heterozygous.
2) Determine if the chart shows an autosomal or sex-linked (usually
X-linked) trait. For example, in X-linked recessive traits, males are
much more commonly affected than females. In autosomal traits,
both males and females are equally likely to be affected (usually in
equal proportions).

Example: Autosomal dominant trait

The diagram shows the inheritance of freckles in a family. The
allele for freckles (F) is dominant to the allele for no freckles (f).
At the top of the pedigree is a grandmother (individual I-2) who has
freckles. Two of her three children have the trait (individuals II-3
and II-5) and three of her grandchildren have the trait (individuals
III-3, III-4, and III-5).

What is genotype of individual 1-2 .

Since freckles
are dominant to no freckles, an affected individual such as I-2 must
at least have one F allele.
InheritedThe trait shows up in all generations and affects both
males and females equally. This suggests that it is an autosomal
dominant trait.
Unaffected individuals must have two recessive alleles (ff) in order
to not have freckles. If we notice, I-2 has some children who do not
have freckles. In order to produce children with a genotype of ff, I-
2 must be able to donate a f allele.
We can therefore conclude that her genotype is Ff.
Example: X-linked recessive trait

The diagram shows the inheritance of colorblindness in a family.

Colorblindness is a recessive and X-linked trait
X^bThe allele for normal vision is dominant and is represented by
X^b
In generation I, neither parent has the trait, but one of their
children (II-3) is colorblind. Because there are unaffected parents
that have affected offspring, it can be assumed that the trait is
recessive. In addition, the trait appears to affect males more than
females (in this case, exclusively males are affected), suggesting
that the trait may be X-linked

What is the genotype of individual 3-2 ?

We can determine the genotype of III-2 by looking at her children.
Since she is an unaffected female, she must have at least one
normal vision allele

(X^B)Her two genotype options are then or X^BX^B or X^BX^b

However, her son (IV-1) is colorblind, meaning that he has a

genotype of X^bYBecause males always get their X chromosome
from their mothers (and their Y from their fathers), his colorblind
allele must come from III-2.

We can then determine that III-2's genotype is X^BX^b so she can

pass the X^bo n to her son.
Common mistakes and misconceptions

The presence of many affected individuals in a family does not

always mean that the trait is dominant. The terms dominant and
recessive refer to the way that a trait is expressed, not by how often
it shows up in a family. In fact, although it is uncommon, a trait
may be recessive but still show up in all generations of a pedigree.

.You may not always be able to determine the genotype of an

individual based on a pedigree. Sometimes an individual can either
be homozygous dominant or heterozygous for a trait. Often, we can
use the relationships between an individual and their parents,
siblings, and offspring to determine genotypes. However, not all
carriers are always explicitly indicated in a pedigree, and it may
not be possible to determine based on the information provided.
Inherited Traits:

Inherited traits are those that are passed down from parents to
offspring through the process of sexual reproduction. A sperm has
23 chromosomes from the father, and the egg has 23 chromosomes
from the mother, all with alleles for genes that the children will
inherit.

What is the difference between X-linked, autosomal dominant,

and autosomal recessive inheritance?...

Answer :- X-linked traits are those which have alleles located on

the X chromosome. The X chromosome is a sex chromosome, and
females have XX, while males have XY. X-linked traits can show up
in both males and females, since both have X chromosomes. Red-
green color blindness is an example of an X-linked trait. Autosomal
dominant traits are traits for which genes are located on autosomal
chromosomes, which are those that aren't sex chromosomes. In the
case of autosomal dominance, only one gene must be received by
the offspring in order for it to show the trait. In other words, only
one parent must pass along the gene. Marfan syndrome is an
example of an autosomal dominant trait. In an autosomal recessive
trait, both parents must pass along the genes for the trait to show
up in the child. If only one parent passes along the gene, the trait
will not show up and the child will be a carrier. An example of an
autosomal recessive trait is sickle cell anemia.

Four structural changes that can take place in chromosomes are

deletions, inversions, duplications and translocations. While some
of these can lead to defects in the offspring, others can occur
without any changes.

Can changes in the structure of chromosomes affect health and

development?
Changes that affect the structure of chromosomes can cause
problems with growth, development, and function of the body's
systems. These changes can affect many genes along the
chromosome and disrupt the proteins made from those genes.

Structural changes can occur during the formation of egg or sperm

cells, in early fetal development, or in any cell after birth. Pieces of
DNA can be rearranged within one chromosome or transferred
between two or more chromosomes. The effects of structural
changes depend on their size and location, whether gene function
is interrupted, and whether any genetic material is gained or lost.
Some changes cause health problems, while others may have no
effect on a person health.

Changes in chromosome structure include the following:

Translocations

A translocation occurs when a piece of one chromosome breaks off

and attaches to another chromosome. This type of rearrangement
is described as balanced if no genetic material is gained or lost in
the cell. If there is a gain or loss of genetic material, the
translocation is described as unbalanced.

Deletions

Deletions occur when a chromosome breaks and some genetic

material is lost. Deletions can be large or small, and can occur
anywhere along a chromosome.

Duplications
Duplications occur when part of a chromosome is abnormally
copied (duplicated). This type of chromosomal change results in
extra copies of genetic material from the duplicated segment.

Inversions

An inversion occurs when a chromosome breaks in two places; the

resulting piece of DNA is reversed and re-inserted into the
chromosome. Genetic material may or may not be lost as a result of
the chromosome breaks. An inversion that includes the
chromosome's constriction point (centromere) is called a
pericentric inversion. An inversion that occurs in the long (q) arm
or short (p) arm and does not involve the centromere is called a
paracentric inversion.

Isochromosomes

An isochromosome is a chromosome with two identical arms.

Instead of one q arm and one p arm, an isochromosome has two q
arms or two p arms. As a result, these abnormal chromosomes
have an extra copy of some genes and are lacking copies of genes
on the missing arm.

Dicentric chromosomes

Unlike normal chromosomes, which have one centromere, a

dicentric chromosome contains two centromeres. Dicentric
chromosomes result from the abnormal fusion of two chromosome
pieces, each of which includes a centromere. These structures are
unstable and often involve a loss of some genetic material.
Ring chromosomes

Ring chromosomes usually occur when a chromosome breaks in

two places, typically at the ends of the p and q arms, and then the
arms fuse together to form a circular structure. The ring may or
may not include the centromere, depending on where on the
chromosome the breaks occur. In many cases, genetic material
near the ends of the chromosome is lost.

Many cancer cells also have changes in their chromosome

structure. These changes are not inherited; they occur in somatic
cells (cells other than eggs or sperm) during the formation or
progression of a cancerous tumor.

Autosomal dominant and autosomal recessive are two different

ways that genetic conditions can be passed down from parents to
children:

Autosomal dominant

A child has a 50% chance of inheriting a mutated gene from a

parent with an autosomal dominant condition. This is because a
single copy of the mutated gene from one parent is enough to cause
the condition. Huntington's disease is an example of an autosomal
dominant condition.

Autosomal recessive
A child inherits a mutated copy of a gene from each parent to have
an autosomal recessive condition. The parents are usually carriers,
meaning they each have one copy of the mutated gene but don't
have the condition themselves. Because of this, autosomal recessive
conditions can often come as a surprise to families, as there may be
no previous family history of the condition. Cystic fibrosis, sickle
cell disease, and Tay-Sachs disease are examples of autosomal