CYTOGENETICS

Dr. Ng’eno

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Chromosome
• Greek – Chroma (colour), Soma (body)
• DNA which carries genetic information in
biological cells is normally packaged as large
macromolecules (chromosomes)
• DNA replication begins at many different
locations on the chromosome
• It is the structural carrier of hereditary
characteristics
• During nuclear division each chromosome
splits (chromatid)
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…… chromosome
• A certain number of chromosomes is
characteristics of each species of plant and
animal, e.g. human - 46
•Principle constituents of chromosome are
nucleoproteins containing deoxyribonucleic
acid (DNA).
• Karyotype – chromosomal constitution of an
individual

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…… chromosome
• To determine number of chromosomes of an
organism cells can be locked in metaphase,
stained, photographed and arranged
(Karyotyping)

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Gene
• A gene is the basic physical and functional
unit of heredity
• It is a section of the DNA strand that carries
the instructions for a specific function.
• Every person has two copies of each gene,
one inherited from each parent
• Alleles are forms of the same gene with
small differences in their sequence of DNA
bases.

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…. gene
• Homozygous – having two similar alleles at
a locus ( is the physical location of the gene
on a chromosome)
•Genotype in the genetic constitution of an
individual
• Phenotype is the observable expression of a
particular gene in an organism

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• Penetrance
•The probability of a genotype being
expressed as an observable phenotype.
If the penetrance is less than 100%, this
is referred to as incomplete penetrance.
• Penetrance may be age dependent, with
some phenotypes not developing until
later life
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Njenga obvious mbugua

Thank you
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