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Gene structure
and function
Terminologies in genetics
Terminology
Gene
• Gene is the hereditary determining factor and it consists of a
continuous segment of DNA.
the gene occupies in a specific
position on the chromosome
called locus (plural loci).
Structure of gene
• Made up of a long strand of DNA
• With coding sequences called
Exons and intervening non
coding sequences called introns
Allele
Allele
Dominant and recessive allele
Homozygous
Heterozygous
Dominence
Recessiveness
Hybridization
Monohybrid
Dihybrid
Function s of gene
• Genes control the functions of DNA and RNA.
• Genes consist of a particular set of instructions or specific
functions
Genotypeand phenotype
Pedigree
Genetic disorders
•a gross chromosomal abnormality involving the
addition or subtraction of an entire chromosome
or set of chromosomes.
•A genetic disease is any disease caused by an
abnormality in the genetic makeup of an
individual.
Inheritance
• Passing of genetic informations from one generation to other
generation
• Types
1. Dominent inheritance
2. Recessive inheritance
Autosomal
Sex linked
3. Sex linked inheritance
•Single gene inheritance 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.
•single-gene disorders. These disorders are
known as monogenetic disorders (disorders of a
single gene).
Dominant inheritance
•A dominant gene for a given character always get
inherited
•Or affected person have an affected parent
Autosomal dominant inheritance
• in which only one copy of a defective gene (from either parent)
is necessary to cause the condition;
Common genetic disorders
Autosomal recessive inheritance
• in which two copies of a defective gene (one from each parent)
are necessary to cause the condition;
Common autosomal recessive disorders
•Hemochromatosis
•Glycogen storage disease
•Thalassemia
•Alkaptonuria
•Muscular dystrophy
•Adrenal hyperplasia
Hemochromatosis
Glycogen storage disease
Thalassemia
Alkaptonuria
Muscular dystrophy
Adrenal hyperplasia
X-linked inheritance
• in which the defective gene is present on the female, or X-
chromosome. X-linked inheritance may be dominant or
recessive.
Mutation
Chromosomal aberrations
Thank you

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