Tay Sachs Disease
When both copies of a gene are recessive, the organism is said to be homozygous recessive for that gene. This means that the individual has inherited the recessive allele from both parents, resulting in the expression of the recessive trait associated with that gene.
One example of a nervous system breakdown caused by an autosomal recessive allele is spinal muscular atrophy (SMA). SMA is a genetic disorder that leads to the loss of motor neurons in the spinal cord, resulting in muscle weakness and atrophy. It is caused by mutations in the SMN1 gene on chromosome 5.
Hair color is determined by genes inherited from parents. Dominant genes for hair color will be expressed over recessive genes, resulting in the dominant color being displayed. If both parents pass on recessive genes, the recessive color will be seen.
Two copies of the abnormal gene get passed down to cause conditions. Tay Sachs, common to Jewish populations, is one of these. It causes degeneration of the nervous system.
From Wikipedia: "the condition follows autosomal dominant inheritance. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child."
Genetic disorders affecting the rods and cones of the eye primarily include retinitis pigmentosa, which leads to progressive vision loss due to the degeneration of photoreceptor cells. Another condition is cone dystrophy, characterized by the deterioration of cone cells, resulting in color vision deficiencies and visual impairment. Additionally, Stargardt disease is a hereditary macular degeneration that specifically affects the central vision by damaging the retinal pigment epithelium and the photoreceptors. These disorders are often inherited in various patterns, including autosomal dominant, autosomal recessive, and X-linked.
Trisomey-21
The gene pair is referred to as homozygous recessive. This means that both copies of the gene are recessive, resulting in the expression of the recessive trait.
Achromatopsia is a rare genetic condition characterized by a complete absence of color vision, resulting in individuals seeing the world in shades of gray. This condition often accompanies other visual impairments, such as reduced visual acuity and light sensitivity (photophobia). It is typically inherited in an autosomal recessive pattern, primarily affecting males. Diagnosis is usually made through clinical evaluation and genetic testing, and while there is no cure, management strategies aim to improve quality of life.
Cystic fibrosis is not caused by nondisjunction; it is a genetic disorder resulting from mutations in the CFTR gene, which is typically inherited in an autosomal recessive manner. Nondisjunction refers to the failure of chromosomes to separate properly during cell division, leading to an abnormal number of chromosomes in gametes. While nondisjunction can lead to conditions like Down syndrome or Turner syndrome, cystic fibrosis is specifically linked to changes in a single gene rather than chromosomal abnormalities.
A lethal recessive trait is a genetic condition caused by a recessive allele that, when two copies are inherited (one from each parent), leads to the death of the organism before or shortly after birth. These traits prevent affected individuals from surviving to reproductive age, resulting in the elimination of the harmful allele from the population over time.
This could be due to carriers of the gene passing it on to their child, resulting in the child having two copies of the gene - one inherited from each parent - and manifesting the disorder. It is also possible for new mutations to occur in the child that cause the disorder, even if the parents do not carry the gene for it.