Nucleic acids

are essential molecules that continue the life in living world

have two main functions
1) regulate metabolic activities in cells
2) maintenance of genetic continuity between generations
the first discovered nucleic acids are the one in leucocytes (WBC)

Structure of nucleic acids

composed of a chain of nucleotides

a nucleotide is composed of:

1) nitrogenous base (A, G, T, C, U)
• are classified as:
a. pyrimidine-with a single ring
- cytosine(C), thymine(T), uracil(U)
b. purines-double ring
- adenine(A) guanine(G)
2) pentose sugar - 5C
• presence or absence of oxygen
a. deoxyribose in DNA
b. ribose in RNA
3) phosphate group
• phosphoric acid H3PO4

1. DNA (deoxyribonucleic acid)

some functions of ADN:
storage of genetic info
provision of continuity by self-replication
regulates cellular activities by controlling protein and enzyme synthesis

the distinctive base composition of DNA

1) DNA composition is different for each species

2) the same species have the same base composition
3) DNA composition is not connected to age or environment
4) the no. of purines and pyrimidines are equal, since A pairs with T and G with C.
THUS: A+G=T+C and A+G/T+C=1s

the double helix model of DNA

DNA is a double-stranded helical structure the nucleotides of a strand are linked by
each strand comprises a chain of nucleotide phosphodiester bonds
a nucleotide is composed of a sugar, the purines of one strand pair with
base and a phosphate group pyrimidines of the other strand
the location of DNA in cells

a) the single, circular DNA in prokaryotes is in cytoplasm forming a region known

as nucleoid
b) is particularly condensed in some regions of each chromosome known as chromomeres in
eukaryotes
c) are characterized by horizontal bands or striations

DNA Replication

DNA stores all the info. for activities for each cell of an organism
when cells divide by mitosis or meiosis, DNA is copied and passed to the next generation
DNA replication is the process by which DNA is duplicated, from which one double helix give two
new double helixes, each of them having one part from the older double helix
firstly, these strands separate from each other, then each is used as a template to give new
COMPLEMENTARY STRAND
the replication of DNA starts at origins of replication, the site where replication starts
enzymes - is a process that occurs in the presence of special enzymes

2. RNA (ribonucleic acid)

1) is found in cytoplasm
2) has P group, ribose A, G, C, U
3) three types: transfer (tRNA), messenger (mRNA), ribosomal (rRNA)
4) single stranded
5) DNA controls RNA transfer

→ mRNA (messenger)
- carries codes for protein synthesis
- processed by ribosomes
→ rRNA (ribosomal)
- ribosomal
- part of ribosome structure
- after produced by DNA, is transferred to nucleolus, ribosome
→ tRNA (transfer)
- found in cytoplasm
- transfer individual: amino acids to ribosome
- it is clover shaped
Chromosomes
A very long DNA molecule and proteins that carry hereditary information of an organism
Chromosomes become visible during cell
division
All the individuals of a species have the same
number of chromosomes
Humans have 46 (23 pairs) chromosomes
Sister chromatids are two identical copies of
a single chromosome that are connected by a
centromere.
Homologous chromosomes are chromosome
pairs, one from each parent, that are similar
in length, gene position, and centromere
location.

Cells that contain full sets of chromosomes

(one from each parent) are DIPLOID CELLS
Somatic cells are diploid cells

Cells that contain half sets of chromosomes are HAPLOID CELLS

Gametes are haploid cells

Autosomal chromosomes (Autosomes):

Any chromosome other than a gonosome
Humans have 44 autosomes

Gonosomal chromosome (Gonosomes):

Have the genes that determine gender of an organism
Humans have 2 gonosomes

A map provided by analysis of chromosomes is used to look for abnormal numbers or structures of
chromosomes

A karyotype is an organized picture of a person’s chromosomes.

Genetic Disorders
Types of Genetic Disorders

Autosomal disorders: found on chromosome pairs 1-22

Sex-linked disorders: found on chromosome pair 23
Chromosomal disorders: too many or too few of a chromosome
Sex linked disorders
Found on X chromosome, generally affects men.
Colorblindness: can’t distinguish colors, commonly red, green (1:10 males, 1:100 females)
Hemophilia: blood fails to clot after injury (1:10,000 males)
Muscular Dystrophy: rapid weakening and loss of skeletal tissue (1:3,500 boys)

Autosomal Recessive Disorders

Albinism: lack of pigment (melanin) in skin, hair, eyes, extremes case deafness (1:17,000)
Sickle Cell Disease: Abnormal hemoglobin is rigid and sickle-shape, can’t transport oxygen well
and get stuck in capillaries tissues (1:500 African American births, 1:1,200 Hispanic births);
heterozygous=malaria resistant
Deafness, Dumbness - Occurs either from environmental factors (ear infection) or inheritance.

Autosomal Dominant Disorders

Huntington’s Disease (HD): Wasting away of brain tissue (8:100,000)

Affects the parts of brain that controls thinking, emotion, movement

Symptoms seen ages between 30-50(sometimes earlier):

- Depression
- Personality changes
- Mood swings
- Memory loss
- Involuntary movements
Acondroplasia: Bone disorder causing dwarfism (1:30,000)
Polydactlyly: having many fingers and toes
Oligodactyly: having less fingers and toes

Chromosomal disorders - Having more or less than 46 chromosomes (in humans)

Down Syndrome: Extra chromosome 21
Birth defects, mild to severe mental retardation, deformed facial features (1:800)
Turner`s syndrome: Missing an X chromosome
Ovaries dont develop, infertile, mentally normal, short (1:2,500 females)
Klinefelter syndrome: An extra X chromosome (XXY)
- Gonads present but small
- Infertile
- Mentally normal
- Long arm and legs
- Soft voice
XXY syndrome: extra Y chromosome; taller than normal;
The Work of Gregor Mendel
The first quantitative information about inheritance came from monohybrid crosses carried out by an
Austrian monk called Gregor Mendel(1822-84). Modern genetics is based on his results.

Mendel used pea plants in his experiments.

1- They breed and grow quickly.

2- Show many characteristics:
- Pea stems are either tall or short
- Pea pods are either yellow or green
- Pea seeds are either round or wrinkled