HUMAN GENETICS
Genetics is the study of the ways such disorders occur. Genetic Disorders are disorders
resulting from a defect in the structure or number of genes or chromosomes.
Nature of Inheritance
Genes are the basic units of hereditary that determine both the physical and cognitive
characteristics of people. Composed of segments of DNA, they
are woven into strands in the nucleus of all body cells to form chromosomes.
A person’s phenotype refers to his or her outward appearance or the
expression of the genes.
A person’s genotype refers to his or her actual gene composition.
A person’s genome is the complete set of genes present which is about 50,000-
100,000.
Autosomal Dominant Inheritance
With an autosomal dominant condition, either a person has two unhealthy genes or
is heterozygous, with the gene causing the disease stronger than the corresponding
healthy recessive gene for the same trait.
Examples of autosomal dominant disorders are Huntington’s disease,
Facioscapulohumeral muscular dystrophy, a form of Osteogenesis imperfecta and
Marfan syndrome
In assessing family genograms for the incidence of inherited disorders, a number of
common findings are usually discovered when a dominantly inherited pattern is
present in the family:
1. One of the parents of a child with the disorder also will have the disorder
(a vertical transmission picture)
2. The sex of the affected individual is unimportant in terms of inheritance
3, There is usually a history of the disorder in other family members
INHERITANCE OF THE DISEASE
Autosomal Recessive Inheritance
More than 1,500 autosomal recessive disorders have been identified. In
contrast, to structural disorders, these tend to be biochemical or enzymatic.
Examples include cystic fibrosis, adrenogenital syndrome, albinism, Tay-Sachs disease,
galactosemia, phenylketonuria, limb-girdle muscular dystrophy and Rh-factor
incompatibility
When family genograms are assessed for the incidence of inherited disease, situations
commonly discovered when a recessively inherited disease is present in the family include the
following:
1. Both parents of a child with the disorder are clinically free of the disorder
2. The sex of the affected individual is unimportant in terms of inheritance
3.The family history for the disorder is negative – that is no one can identify anyone else
who had it (a horizontal transmission pattern)
4. A known common ancestor between the parents sometimes exists. This
explains how both male and female came to possess a like gene for the disorder
INHERITANCE OF THE DISEASE
X. Linked Dominant Inheritance
There are about 300 known X-linked disorders. If the gene is dominant, only
ne X chromosome with the trait need be present for symptoms of the disorder to be
manifested.
Family characteristics seen with this type of inheritance include the
following:
1. All individuals with the gene are affected
2. All female children of affected men are affected; all male
children of affected men are unaffected
3. It appears in every generation
4. All children of homozygous affected women are affected.
50% of the children of heterozygous affected women are affected.
INHERITANCE OF THE DISEASE
X-Linked Recessive Inheritance
The majority of X-linked inherited disorders are recessive, and inheritance of the gene
from both parents is incompatible with life.
Examples are Hemophilia A, color blindness, Duchenne muscular dystrophy
and fragile X syndrome
When family genograms are assessed for inherited disorders, the following findings
usually are apparent if an X-linked recessive inheritance disorder is present in the family:
1. Only males in the family will have the disorder
2. A history of girls dying at birth for unknown reasons often exists
(females who had the affected gene on both X chromosomes
3. Sons of an affected man are unaffected
4. The parents of affected children do not have the disorder
INHERITANCE OF THE DISEASE
Y-Linked Inheritance
Although genes responsible for features such as height and tooth
size are found on the Y chromosome, no known disease genes
are inherited by Y-chromosome transmission.
INHERITANCE OF THE DISEASE
Trisomy 13 Syndrome - also called Patau syndrome, is a chromosomal condition
associated with severe intellectual disability and physical abnormalities in many
parts of the body.
Trisomy 18 Syndrome - also called Edwards syndrome, is a chromosomal condition
associated with abnormalities in many parts of the body. Individuals with trisomy 18
often have slow growth before birth (intrauterine growth retardation) and a low
birth weight.
Cri-du-Chat Syndrome- also known as 5p- syndrome and cat cry syndrome - is a rare
genetic condition that is caused by the deletion (a missing piece) of genetic material
on the small arm (the p arm) of chromosome 5.
COMMON CHROMOSOMAL DISORDERS
Turner Syndrome - is a chromosomal condition related to the X
chromosome that alters development in females, though it is not usually
inherited in families.
Klinefeiter Syndrome - also known as the XXY condition, is a term used to
describe males who have an extra X chromosome in most of their cells.
Fragile X Syndrome (FXS) is a genetic disorder characterized by mild-to-
moderate intellectual disability.
Down Syndrome- (sometimes referred to as "Down's syndrome") or trisomy
21 is a common genetic disorder that occurs when a person has three
copies of chromosome 21.
COMMON CHROMOSOMAL DISORDERS
