HUMAN GENETICS

It is the scientific study of inheritance and variation of genes in human beings.

It is the science of inheritance. It attempts to explain the differences and
similarities between related organism and the ways in which characters are
passed from parent to their offspring.
CHROMOSOMES
Chromosomes are fundamental structures that store and transmit genetic
information.
Chromatin are thread-like structures composed of DNA and proteins, found in
the nucleus of eukaryotic cells. They carry genetic information and play a
crucial role in heredity. In a resting cell, the chromatin (DNA + Proteins) is
diffuse and hard to see under the micro- scope, but when the cell prepares to
divide, it is collected into highly visible, compact, sausage-shaped structures
(Chromosomes).
CHROMOSOMAL STRUCTURE
 DNA
Chromosomes consist of DNA, a complex molecule that encodes genetic
instructions.
 HISTONES AND NUCLEOSOMES
DNA wraps around histone proteins, forming nucleosomes, which are the basic
units of chromatin.
 CHROMATIDS
Chromosomes consist of two chromatids, joined at the centromere, which
separates during cell division.
TYPES OF CHROMOSOMES
 AUTOSOMES
The first 22 pairs are collectively known as autosomes, and the chromosomes of
each pair contain the same amount of genetic material. Chromosomes that
contain genes for general body characteristics, excluding sex-linked traits.
 SEX CHROMOSOMES
Determine an individual's sex; in humans, denoted as X and Y chromosomes.
The chromosomes of pair 23rd.
CHROMOSOMAL NUMBER
 HAPLOID & DIPLOID:
Haploid cells have half the full set of chromosomes (e.g., gametes), while
diploid cells have the full set. A cell with 23 pairs of chromosomes is termed
diploid (e.g., somatic cells).
 HOMOLOGOUS CHROMOSOMES:
Chromosomes belonging to the same pair are called homologous chromosomes.
Chromosome pairs that carry genes for the same traits, one from each parent.
The complete set of chromosomes from a cell is its karyotype.
GENES
A gene is a segment of DNA that codes for a specific functional product. Along
the length of the chromosomes are the genes. Each gene contains information in
code that allows the cell to make a specific protein, the gene product.
Genes are composed of nucleotide sequences in the DNA molecule, containing
instructions for synthesizing gene products.
GENETIC CODE
The sequence of nucleotides in a gene determines the order of amino acids in a
protein, forming the genetic code.
DNA carries a huge amount of information that determines all biological
activities of an organism, and which is transmitted from one generation to the
next. The key to how this information is kept is found in the bases within DNA.
There are four bases:
 Thymine (T)
 Cytosine (C)
 Adenine (A)
 Guanine (G)
They are arranged in a precise order along the DNA molecule, making a base
code that can be read when protein synthesis is required. Each base along one
strand of DNA pairs with a base on the other strand in a precise and predictable
way (complementary base pairing).
GENETIC BASIS OF INHERITANCE
Mixing up of parental genes during meiosis leads to the huge genetic variety of
the human race. It is important to understand how genes interact to produce
inherited characteristics.
AUTOSOMAL INHERITANCE
Each of a pair of homologous chromosomes contains genes for the same traits.
For example, the ability to roll one's tongue is coded for on a single gene.
Because one chromosome of each pair is inherited from the father and one from
the mother, an individual has two genes controlling the ability to roll the tongue.
Such paired genes are called alleles. Corresponding alleles contain genes
concerned with the same trait, but they need not be identical.
An individual may have:
 two identical forms of the gene (homozygous)
 two different forms of the gene (heterozygous)
GENE EXPRESSION
Gene expression is the process by which the information (code word) encoded
in the gene is converted into functional gene product or document of instruction
(RNA) that is used for protein synthesis.
Gene expression involves two steps:
1. Transcription.
2. Translation.

TRANSCRIPTION OF GENETIC CODE

The word transcription means copying. It indicates the Copying of genetic code
from DNA to RNA. The proteins are synthesized in the ribosomes which are
present in the cytoplasm. The synthesis of different proteins depends upon the
information encoded in the genes of the DNA which is present in the nucleus.
Since DNA is a macromolecule, it cannot pass through the pores of the nuclear
membrane and enter the cytoplasm. But, the information from DNA must be
sent to ribosome. So, the gene has to be transcribed (copied) into mRNA which
is developed from DNA.
Thus, the first stage in the protein synthesis is transcription of genetic code,
which occurs within the nucleus. It involves the formation of mRNA and
simultaneous copying or transfer of information from DNA to mRNA. The
mRNA enters the cytoplasm from the nucleus and activates the ribosome
resulting in protein synthesis. The formation of mRNA from DNA is facilitated
by the enzyme RNA polymerase.
TRANSLATION OF GENETIC CODE
Translation is the process by which protein synthesis occurs in the ribosome of
the cell under the direction of genetic instruction carried by mRNA from DNA.
Or, it is the process by which the mRNA is read by ribosome to produce a
protein. This involves the role of other two types of RNA, namely tRNA and
rRNA.
The mRNA moves out of nucleus into the cytoplasm. Now, a group of
ribosomes called polysome gets attached to mRNA. The sequence of codons in
mRNA are exposed and recognized by the complementary sequence of base in
tRNA. The complementary sequence of base is called anticodon. According to
the sequence of bases in anticodon, different amino acids are transported from
the cytoplasm into the ribosome by tRNA that acts as a carrier. With the help of
rRNA, the protein molecules are assembled from amino acids.
The protein synthesis occurs in the ribosomes which are attached to rough
endoplasmic reticulum.

MUTATION
Mutation means an inheritable alteration in the normal genetic make-up of a
cell. Most mutations occur spontaneously,
 because of the countless millions of DNA replications and cell divisions
that occur normally throughout life.
 Others may be caused by external factors, such as X-rays, ultraviolet rays
or Exposure to certain chemicals.
Any factor capable of mutating DNA is called a mutagen. Most mutations are
immediately repaired by an army of enzymes present in the cell nucleus.
TYPES OF GENETIC DISORDER
There are four different types of genetic disorders (inherited) and include:
A- Single gene inheritance
B- Multifactorial inheritance
C- Chromosome abnormalities
D- Mitochondrial inheritance
A. SINGLE GENE DISODER

Is also called Mendelian or monogenetic inheritance. Changes or mutations that

occur in the DNA sequence of a single gene cause this type of inheritance.
There are thousands of known single-gene disorders.
Single-gene disorders have different patterns of genetic inheritance, including:
a) Autosomal dominant inheritance: In which only one copy of a defective gene
(from either parent) is necessary to cause the condition; e.g Huntington disease,
Marfan syndrome etc.
b) Autosomal recessive inheritance: In which two copies of a defective gene
(one from each parent) are necessary to cause the condition; e.g Cystic Fibrosis,
Sickle cell anemia, Albinism etc.
c) X-linked Dominant. Inheritance, in which the defective gene is present on the
female, or X-chromosome. X-linked inheritance may be dominant or recessive.
If father has the mutation in the dominant gene of X-chromosome. Being
dominant it will always express and affect only female child. If mother is
affected, sons and daughters who will inherit the mutated gene will be affected
because they all receive X-chromosome from mother. E.g Fragile-X syndrome
d) X-linked Recessive: If father has a defective recessive gene only daughters
who inherit defective gene will appear as carriers. If mother has the defective
gene, daughters affected will be carriers, but the sons will be affected e.g
Ducchene Muscular dystrophy, Color blindness etc.
B. MULTIFACTORIAL INHERITANCE
Is also called complex or polygenic inheritance. Multifactorial inheritance
disorders are 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 of multifactorial inheritance include:
• Coronary Heart disease
• Alzheimer's disease
•Arthritis,
• Diabetes,
• Cancer, and
• Obesity.
C. CHROMOSOMAL ABNORMALITIES
Chromosomal abnormalities typically occur due to a problem with cell division.
It results in physical or mental disability
For example, Down syndrome or trisomy 21(Extra), Klinefelter syndrome XXY,
Turner’s syndrome (44, XO), Cri du chat syndrome etc. Diseases may also
occur because of chromosomal translocation in which portions of two
chromosomes are exchanged.
D. MITOCHONDRIAL GENETIC INHERITANCE DISORDERS
This type of genetic disorder is caused by mutations in the non-nuclear 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. Since egg cells, but not sperm cells, keep their mitochondria during
fertilization, mitochondrial DNA is always inherited from the female parent.