Loss or addition of one or more nucleotides in a gene, the protein the gene makes may not function properly or the function may be altered
Changes in chromosome number and segment rearrangements
Down syndrome (chromosome 21), Edward syndrome (chromosome 18), Patau syndrome (chromosome 13), Klinefelter's syndrome (extra X chromosome)
Dominant vs Recessive
A dominant allele is expressed even if paired with a recessive allele, a recessive allele is only visible when paired with another recessive allele
Autosomal recessive
A disease appears in male and female children of unaffected (carrier) parents if two copies of the affected gene are inherited
Autosomal dominant
A person needs only one copy of the defective gene to develop the disorder
linked recessive
All the daughters of an affected male are "carriers", many more males show the disorder, none of the sons of an affected male show the disorder or are carriers
Co-dominant inheritance
Two different versions (alleles) of a gene can be expressed, and each version makes a slightly different protein
Mitochondrial inheritance
Applies to genes in mitochondrial DNA (maternal inheritance)
Mitochondrial disorders
Can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children
Behavioural Genetics
The investigation of the associations between genetics and behavioural characteristics (e.g., personality), also considers the role of environment