GENETICS
Gichuki J
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Genetics Overview: Mutations, Disorders, and Inheritance, Study Guides, Projects, Research of Genetics
An overview of genetics, covering topics such as gene mutations, mendelian disorders, chromosome mutations, and single-gene disorders. It explains the flow of genetic information from dna to proteins, the structure of nucleotides, and the processes of transcription and translation. The document also discusses different types of genetic mutations, including germline and somatic mutations, and various inheritance patterns like autosomal dominant, autosomal recessive, x-linked dominant, x-linked recessive, y-linked, and mitochondrial inheritance. Key concepts such as phenotype, genotype, alleles, homozygous, and heterozygous conditions are defined, providing a foundational understanding of genetic principles and their implications for inherited traits and diseases. The document further explores chromosomal mutations, including deletion, duplication, inversion, and translocation, offering a comprehensive introduction to the field of genetics and its complexities.
Typology: Study Guides, Projects, Research
2024/2025
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GENETICS
Gichuki J
OUTLINE
Introduction to genetics
Gene mutations
Mendelian disorders
Chromosome mutations
Single gene disorders
Diseases due to
nucleotide repeat
mutations
Mitochondrial gene
disorders
Genomic imprinting
Gonadal mosaicism
Consequences of genetic
disorders
Molecular diagnosis of
genetic diseases
Genetic info flows from DNA to proteins (central dogma or
theory)
DNA is a polymer of nucleotides
A nucleotide consists of a sugar molecule (either ribose in
RNA or deoxyribose in DNA) attached to a phosphate group
and a nitrogen-containing base
A nucleotide is composed of nitrogenous bases
Chromosome. Thread like structures made of protein and a
single double stranded molecule of DNA that serve to carry
the genomic information from cell to cell
Gene expression involves two major processes
Transcription – synthesis of RNA from DNA
Translation – synthesis of proteins from RNA
Genes that govern variations of the same
characteristic and that occupy corresponding loci on
homologous chromosomes are termed alleles
So there are to or more alternative forms of a gene
that can occur at corresponding specific loci.
Dorminant allele capita letter
Recessive allele-small letter
Homozygous and heterozygous
2 identical alleles (AA, or aa) –homozygous
2 non identical alleles (Aa)- heterozygous
Phenotype and genotype
Phenotype- appearance of an individual with respect
to a certain inherited trait
Genotype – genetic constitution of that organism
T-tall
t- short
Organism Tt will be tall or short
B brown fur, b black fur. The organism has brown fur.
What are the likely genotype
Chromosomal mutations
All mutations fall into 2 basic categories
Those that produce change in a single gene- gene
mutations
Are point mutations and include substitutions, insertions
and deletions
Those that produce changes in whole chromosomes-
chromosomal mutations
Chromosomal mutations. Involve change in the
number or structure of chromosomes
Can change the location of genes on chromosomes
and can even change the number of copies of some
genes
4 type. Deletion, duplication, inversion and
translocation