EOB-Tutorial 6

Harsh Pittroda
1. What do u mean by gene linked diseases?
Genetic disease: A disease caused by an abnormality in an individual's genome.
There are several different types of genetic inheritance:
1. Single gene inheritance -- Also called Mendelian or monogenic inheritance.
This type of inheritance is caused by changes or mutations that occur in the
DNA sequence of a single gene. There are more than 6,000 known single-
gene disorders, which occur in about 1 out of every 200 births. Some
examples are cystic fibrosis, sickle cell anemia, Marfan
syndrome, Huntington's disease, and hemochromatosis. Single-gene
disorders are inherited in recognizable patterns: autosomal dominant,
autosomal recessive, and X-linked.
2. Multifactorial inheritance -- Also called complex or polygenic inheritance.
This type of inheritance is caused by a combination of environmental factors
and mutations in multiple genes. For example, different genes that
influence breast cancer susceptibility have been found on chromosomes 6,
11, 13, 14, 15, 17, and 22. Some common chronic diseases are multifactorial
disorders. Examples include heart disease, high blood pressure, Alzheimer
disease, arthritis, diabetes, cancer, and obesity. Multifactorial inheritance
also is associated with heritable traits such as fingerprint patterns, height,
eye color, and skin color.
3. Chromosome abnormalities -- Chromosomes, distinct structures made up of
DNA and protein, are located in the nucleus of each cell. Because
chromosomes are the carriers of the genetic material, abnormalities in
chromosome number or structure can result in disease. For example, Down
syndrome or trisomy 21 is a common disorder that occurs when a person has
three copies of chromosome 21. There are many other chromosome
abnormalities including Turner syndrome (45,X), Klinefelter syndrome (47,
XXY), the cat cry syndrome (46, XX or XY, 5p-), and so on.
 4. Mitochondrial inheritance -- This type of genetic disorder is caused by
mutations in the nonchromosomal DNA of mitochondria. Mitochondria are
small round or rod-like organelles that are involved in
cellular respiration and found in the cytoplasm of plant and animal cells.
Each mitochondrion may contain 5 to 10 circular pieces of DNA. Examples
of mitochondrial disease include an eye disease called Leber's hereditary
optic atrophy; a type of epilepsy called MERRF which stands for
Myoclonus Epilepsy with Ragged Red Fibers; and a form of dementia called
MELAS for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like
episodes.
The sequence of the human genome provides the first holistic view of our genetic
heritage. While not yet complete, continued refinement of the data bring us ever
closer to a complete human genome reference sequence. The 46 human
chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes)
between them house almost 3 billion base pairs of DNA that contains about 30 to
40,000 protein-coding genes. The coding regions make up less than 5% of the
genome (the function of the remaining DNA is not clear) and some chromosomes
have a higher density of genes than others.

2. What is single gene disorder? Explain in detail.

Single gene disease: Any genetic disorder caused by a change affecting only one
gene. There are thousands of single-gene diseases including achondroplasia, cystic
fibrosis, hemophilia, Huntington disease, muscular dystrophy, and sickle cell
disease .
Single-gene diseases usually follow simple Mendelian patterns of inheritance --
autosomal dominant, an autosomal recessive, or an X-linked.
Recessive diseases -Recessive diseases are single gene disorders that only occur in
the homozygous state - when an individual carry two mutant versions (alleles) of
the relevant gene. The effects of the healthy allele can compensate for the effects
of the mutant allele. The mutant allele does not cause disease symptoms when a
healthy allele is also present. However, if a parent inherits two mutant alleles, there
are no healthy alleles, so the mutant allele can exert its effect. As shown in the
diagram below, affected individuals arise when both of their parents carry a single
mutated allele and each pass on that mutated copy to the child so the child then
has two mutated copies

X-linked disorders X-linked disorders are single gene disorders that result from the
presence of a mutated gene on the X chromosome. Because females (XX) have two
copies of the X chromosome but males (XY) only have one copy, X-linked disorders
are more common in males. If a male’s single copy on the X chromosome is
mutated, he has no healthy copy to restore healthy function.

X-linked recessive diseases Examples of X-linked recessive disorders include red-

green colour blindness, haemophilia and the Duchenne and Becker forms of
muscular dystrophy. X-linked recessive disorders are much more common in males
than females because two copies of the mutant allele are required for the disorder
to occur in females, while only one copy is required in males.