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L1 - INTRODUCTION TO DEVELOPMENT; Human Genetics
Be able to define the…
L1 - INTRODUCTION TO DEVELOPMENT; Human Genetics
- Be able to define the terms cytogenetics , molecular genetics, epigenetics, gene, allele, loci, genotype, phenotype (trait), homozygous, heterozygous, somatic, germline, de novo, diploid , haploid, chromosome, autosome, chromatid, monogenic, polygenic.
- Be able to describe the difference between a mutation, a polymorphism and a risk allele.
- Be able to define the terms Mendelian inheritance, dominant , recessive, allele segregation and independent assortment
Genetic Studies
Cytogenetics
Confers information regarding the Structure, properties & behaviour of chromosomes .
Karyotype -
Used to determine chromosome umer snd sructure. Can detect copy number aberrations and large strcutural rearragement (Translocations, transplants, cancerous mutaions etc.)
Molecular Genetics
- Studies structure and function of genes at a molecular level
- Can determine whther DNA or RNA based
Epigenetics
Heritable changes to the phenotype which are rendered through altering genetic expression of the genotype NOT through re-writing the genotype.
E.g. DNA Methylation
A fine example of epigentic modification of DNA which alters phenotype through histone modifcation yet does not disturb genotype
Cell differentiation is achieved by each unique cell expressing a different complement of genes. This allows cells with the same basic genetic material to exercise different biological functions
Epigenetics is typically influenced by stimuli external to the cell (e.g. age, environment, lifestyle, diseased state)
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The Human Genome
Homologous Chromosomes
= Pair of Corresponding Chromosomes
(Maternal + Paternal) -
ALLELES-
Sequences of DNA which code for the same phenotype, found on corresponding LOCI on complimentary Chromosomes
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Somatic Cells
Cells which are not transferred onward to the progeny during sexual reproductionDiploid (46 Chr) = Mitosis