Human genetic

Genetic Control of Cell Function

 Genetic information is stored in the structure of deoxyribonucleic acid
(DNA).
 DNA is an extremely stable macromolecule found in the nucleus of
each cell.
because of stability
• genetic information can survive the many processes of reduction division in
which the gametes (i.e., ovum and sperm).
• maintained throughout the many mitotic cell divisions involved in the
formation of a new organism from the single-celled fertilized ovum called the
zygote.
 Gene
• A part of the DNA molecule
• contains the information needed to code for the
types of proteins and enzymes needed for the
day-to-day function of the cells in the body.
• unit of heredity passed from generation to
generation.
• about 25,000 protein- coding genes.
• DNA &RNA are involved in the actual synthesis of
cellular enzymes and proteins

types of RNA:
• messenger RNA
• transfer RNA
• ribosomal RNA
Messenger RNA (mRNA)
contains the transcribed instructions for protein synthesis obtained from the DNA
molecule and carries them into the cytoplasm.
TRANSLATION the synthesis of proteins according to the instructions carried by
mRNA.

Ribosomal RNA (rRNA)

provides the machinery needed for protein synthesis
Transfer RNA (tRNA)
reads the instructions and delivers the appropriate amino acids to the ribosome,
where they are incorporated into the protein being synthesized.
 DNA
nuclear DNA
part of the DNA of a cell founded in the mitochondria.
Mitochondrial DNA
 is inherited from the mother by her offspring ( matrilineal inheritance).
 Several genetic disorders are attributed to defects in mitochondrial DNA .
DNA
• composed of nucleotides( phosphoric acid, a five-carbon sugar called deoxyribose, and
one of four nitrogenous bases)
• DNA consists of alternating groups of sugar and phosphoric acid

These nitrogenous bases carry the genetic information and are divided into two groups:

1. The purine bases, adenine A and guanine G, which have two nitrogen ring structures.
2. The pyrimidine bases, thymine T and cytosine C, which have one ring.
DNA replication or DNA synthesis
• is the process of copying double stranded DNA strand, prior to
cell division.
• Replication occurs in the nucleus during the interphase (S) Gives
daughter cells a complete set of genetic information identical to
the parent cell.
• The two resulting double strands are identical
• Each of them consists of one original and one newly synthesized
strand. This is called semi conservative replication.
Protein Synthesis
DNA determine type of biochemical product
All information carry out by RNA
Messenger RNA
• is the template for protein synthesis
• It is a long molecule containing several hundred to several thousand nucleotides.
• is formed by a process called transcription
• The RNA polymerase attaches to the double-stranded DNA and proceeds to
copy the meaningful strand into a single strand of RNA as it travels along the
length of the gene.
Transfer RNA
 The tRNA molecule contains only 80 nucleotides (smallest RNA molecule).
 the function carrying an amino acid to the protein synthetic machinery of a
cell (ribosome) as directed by a three-nucleotide sequence (codon) in a
messenger RNA (mRNA)
 20 different types of tRNA are known, each of which recognizes and binds to
only one type of amino acid
 Each tRNA molecule has two recognition sites: the first is complementary for
the mRNA codon and the second is for the amino acid itself.
 Each type of tRNA carries its own specific amino acid to the ribosomes
Ribosomal RNA
 structure in the cytoplasm where protein synthesis takes place.
 Ribosomal RNA forms 60% of the ribosome,
 rRNA is synthesized in the nucleus (produced in nucleolus).
 rRNA combines with ribosomal proteins in the nucleus to produce the
ribosome, which is then transported into the cytoplasm.
most ribosomes become attached to the endoplasmic reticulum and begin the
task of protein synthesis.
 The process of protein synthesis is called translation
 Messenger RNA provides the information needed for placing the amino acids in
their proper order for each specific type of protein.
 CHROMOSOMES:
• A single piece of coiled DNA around histone proteins and protein that is found
in cell nucleus.
• Chromosomes are packaged by proteins into a condensed structure called
chromatin.
• Chromatids attached to each other at the centromere.
• Centromere is a narrow region that divides the chromosome into short arm
and long arm.
• The short arms are called p arms and the long arms are called q arms
 Most genetic information of a cell is organized, stored, and retrieved in
small intracellular structures called chromosomes

 chromosomes are visible only in dividing cells

 The chromosomes are arranged in pairs; one member of the pair is

inherited from the father, the other from the mother

 Each species has a characteristic number of chromosomes. In the human,

46 single or 23 pairs of chromosomes are present.
 22 pairs called autosomes (same in all individuals)
 23rd (sex chromosomes) X & Y
 Male (X Y) X from mother Y from father Female ( X X)
 Human body have somatic cells (body cells), which are diploid (2n) having
two sets of chromosomes, one from the mother and one from the father.
Gametes, reproductive or germ cells, are haploid (one n), they have one
set of chromosomes
Mitosis
in (autosome or somatic cell) chromosomes replicate so that each cell receives a
full diploid number (22 in each cell) diploid
Meiosis
replicate germ cells haploid (one in each gamete)
CHROMOSOME STRUCTURE: Key points:
• The DNA that stores genetic material is organized into 23 pairs of
chromosomes. There are 22 pairs of autosomes, which are alike for males
and females, and one pair of sex chromosomes, with XX pairing in females
and XY pairing in males.

• Mitosis refers to the duplication of chromosomes in somatic cell

lines, in which each daughter cell receives a pair of 23
chromosomes.
• Meiosis is limited to replicating germ cells and results in the
formation of a single set of 23 chromosomes.
Cytogenetic is the study of the structure and numeric
characteristics of the cells chromosome Lymphocytes from
venous blood are frequently used for this purpose.
A Karyotype
Karyotypes describe the number of chromosomes, and what
they look like under a light microscope. length, the position of
the centromeres, banding pattern, any differences between
the sex chromosomes, and any other physical characteristics.
• in normal diploid organisms, autosomal chromosomes are present in
two copies.
• Polyploid cells have multiple copies of chromosomes
• haploid cells have single copies.

• Metacentric: The centromere is in the center and the arms are of

approximately the same length.
• Submetacentric: if it is off center and the arms are of clearly different
length.
• Acrocentric: it is near one end.