What Are The Different Ways in Which A Genetic Condition Can Be Inherited?
What Are The Different Ways in Which A Genetic Condition Can Be Inherited?
What Are The Different Ways in Which A Genetic Condition Can Be Inherited?
Some genetic conditions are caused by mutations in a single gene. These conditions are
usually inherited in one of several patterns, depending on the gene involved:
Patterns of inheritance
Inheritance
pattern Description Examples
Autosomal One mutated copy of the gene in each cell is sufficient for a Huntington
dominant person to be affected by an autosomal dominant disorder. In disease, Marfan
some cases, an affected person inherits the condition syndrome
from an affected parent. In others, the condition may result
from a new mutation in the gene and occur in people with no
history of the disorder in their family.
Autosomal In autosomal recessive inheritance, both copies of the gene cystic fibrosis, sickle
recessive in each cell have mutations. The parents of an individual with cell disease
an autosomal recessive condition each carry one copy of the
mutated gene, but they typically do not show signs and
symptoms of the condition. Autosomal recessive disorders
are typically not seen in every generation of an affected
family.
X-linked X-linked recessive disorders are also caused by mutations in hemophilia, Fabry
recessive genes on the X chromosome. In males (who have only one X disease
chromosome), one altered copy of the gene in each cell is
Patterns of inheritance
Inheritance
pattern Description Examples
Many health conditions are caused by the combined effects of multiple genes (described as
polygenic) or by interactions between genes and the environment. Such disorders usually do not
follow the patterns of inheritance listed above. Examples of conditions caused by multiple genes or
gene/environment interactions include heart disease, type 2 diabetes, schizophrenia, and certain
types of cancer.
Sex-influenced Traits
Some of the traits are carried on sex chromosomes, namely, X and Y chromosomes. Because
Y chromosome is smaller, it carries few genes, whereas the X chromosome carries more number of
genes. There are 3 types of traits based on their inheritance pattern:
1. Sex-limited traits
Trait is absent in one sex while present in another; e.g. barred coloring in chickens seen only in
roosters.
2. Sex-linked traits
Mostly related to X-linked inheritance and males develop them while females with second X gene
counteract; e.g. color blindness and sickle cell anemia
3. Sex-influenced traits
Sex-influenced traits are autosomal traits that are expressed based on the influence of the
sex, in particular the sex hormones: e.g. testosterone in males and estrogen and progesterone in
females. Although these traits can be seen in both the sexes, the degree or frequency of the
phenotypic expression varies according to the sex. The genes are dominant in males but recessive
in females. The following figure shows some of the basic symbols used to express sex-influenced
traits:
The presence of hair as a character has 2 forms: baldness (B +) and full hair (B - ). B+ is dominant in
males but recessive in females and, hence, requires 2 B + to cause baldness in females. In addition,
the presence of testosterone levels influences the expression of baldness allele. Higher levels of
testosterone hormone in males cause the baldness gene to be dominant while lower levels in females
make it recessive. This trait is also called as male pattern baldness.
GenotypeMale Female
B+B+ Bald Bald
B+B - Bald Full hair
-
B B - Full hairFull hair
Hemophilia A and Hemophilia B
There are two main types of hemophilia - Hemophilia A (due to factor VIII deficiency) and
Hemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated
with spontaneous bleeding into joints and muscles and internal or external bleeding after injury or
surgery.
After repeated bleeding episodes permanent damage may be caused to the joints and
muscles that have been affected, particularly the ankles, knees and elbows.
Approximately 1 in 5,000 males is born with Hemophilia A, and 1 in 30,000 males is born with
Hemophilia B. Hemophilia affects people of all races and ethnic origins globally. The conditions are
both X-linked and virtually all sufferers of hemophilia are males. Female carriers may also bleed
abnormally, because some have low levels of the relevant clotting factor.
People with hemophilia have a genetic mutation in the affected gene on the X chromosome,
which results in reduced production of Factor VIII or IX and creates a bleeding tendency, because
coagulation takes much longer than normal, thus making the clot weak and unstable
Approximately one third of patients with hemophilia have no family history of the disease,
either because of new genetic mutations, or because previous affected generations either had
daughters (who were carriers) or sons who died in early childhood from hemophilia or any other
cause or who were not affected.
Acquired hemophilia
This is very rare. The patient develops the condition during his/her lifetime and it does not
have a genetic or heritable cause. It occurs when the body forms antibodies that attack one or more
blood clotting factors, (usually factor VIII), thus preventing the blood clotting mechanism from working
properly. Patients may be male or female and the pattern of bleeding is rather different from that of
classical hemophilia, the joints being rarely affected. The disorder is particularly associated with old
age and occasionally complicates pregnancy.