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One of the ways a genetic trait or condition caused by a mutated (changed) gene

on the X chromosome can be passed down (inherited) from parent to child. In X-linked
dominant inheritance, a genetic condition can occur when the child inherits one copy of
a mutated (changed) gene on the X chromosome from one parent. Daughters have a
50% chance of inheriting the mutated X-linked gene from their mother and a 100%
chance of inheriting the mutated X-linked gene from their father. Sons have a 50%
chance of inheriting the mutated X-linked gene from their mother and a 0% chance of
inheriting the mutated X-linked gene from their father.

x-LINKED DOMINANT TRAIT

X-linked dominant inheritance is a way a genetic trait or condition can be passed down from parent to
child through mutations (changes) in a gene on a single X chromosome. In females (who have two X
chromosomes), a mutation in a gene on one of the X chromosomes is enough to cause the condition. In
males (who only have one X chromosome), a mutation in the copy of the gene on the single X
chromosome causes the condition. Fathers cannot pass X-linked dominant conditions to their sons, but all
daughters of affected fathers will be affected with the condition and can pass it on to their children.

X-LINKED RECESSIVE INHERITANCE

X-linked recessive inheritance refers to genetic conditions associated with


mutations in genes on the X chromosome. A male carrying such a mutation will be
affected, because he carries only one X chromosome. A female carrying a mutation in
one gene, with a normal gene on the other X chromosome, is generally unaffected.
X-linked recessive inheritance is a way a genetic trait or condition can be passed down from
parent to child through mutations (changes) in a gene on the X chromosome. In males (who only have one
X chromosome), a mutation in the copy of the gene on the single X chromosome causes the condition.
Females (who have two X chromosomes) must have a mutation on both X chromosomes in order to be
affected with the condition. If only the father or the mother has the mutated X-linked gene, the daughters
are usually not affected and are called carriers because one of their X chromosomes has the mutation but
the other one is normal. Sons will be affected if they inherit the mutated X-linked gene from their mother.
Fathers cannot pass X-linked recessive conditions to their sons.

What is mitochondrial inheritance?


The normal 46 chromosomes in our body are contained in the center of the cell, which is called the
nucleus. Mitochondria are structures in the cell located outside of the nucleus in the cytoplasm, that
also contain genes that are separate from the ones in the nucleus.

Unlike nuclear genes, which are inherited from both parents, mitochondrial genes are inherited only
from the mother. If there is a mutation in a mitochondrial gene, it is passed from a mother to all of her
children; sons will not pass it on, but daughters will pass it on to all of their children, and so on. The
first human disease that was associated with a mutation in mitochondrial DNA is called Leber's
Hereditary Optic Neuropathy, or LHON.
What is Leber's hereditary optic neuropathy
(LHON)?
LHON causes a painless loss of central vision between 12 and 30 years of age. Both eyes are affected
at the same time. Males will not pass the gene to any of their children, but females with the mutation
will pass it to all of their children, regardless of whether they are sons or daughters.

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


Pedigree showing the inheritance of freckles across three generations.

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 the genotype of individual I-2?]

Example: X-linked recessive trait


Pedigree showing the inheritance of colorblindness across four
generations.

The diagram shows the inheritance of colorblindness in a family.


Colorblindness is a recessive and X-linked trait . The allele for normal
vision is dominant and is represented by .

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.

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