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What are some genetic disorders of the rods and cones of the eye?
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.
Is inherited autosomal recessive disorder in which a person lacks the enzyme that is necessary to break down a certain lipid in the brain resulting to brain damage?
Tay Sachs Disease
What is the nervous system that breakdown that is caused by an autosomal recessive allele?
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.
Autosomal abnormality resulting in three copies of chromosome 21 is known as?
Trisomey-21
What are facts about achromatopsia?
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.
Turner syndrome its autosomal?
Turner syndrome is not autosomal; rather, it is caused by a complete or partial absence of one of the X chromosomes in females, resulting in a monosomy (45,X). This chromosomal condition can lead to various physical and developmental features, such as short stature and infertility.
When both parents contribute to the gene pair are recessive the pair is referred to as the?
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.
The result from severe trauma or strain but is frequently related to degeneration of he intervertebral joints?
It sounds like you are describing a condition called degenerative disc disease. This condition occurs when the intervertebral discs in the spine deteriorate over time, often resulting in pain and reduced mobility. Factors such as trauma or strain can exacerbate the degeneration process. Physical therapy, pain management, and sometimes surgery may be recommended for treatment.
What is it called when both copies of genes are recessive?
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.
What is a condition in which neither of two alleles of a gene is dominant or recessive?
Codominance is a condition in which neither of two alleles of a gene is dominant or recessive. In codominance, both alleles are expressed in the phenotype of the heterozygote, resulting in a unique phenotype that is a mixture of the two alleles.
A homozygous genotype where both alleles are recessive are called?
A homozygous genotype with both alleles being recessive is called a homozygous recessive genotype. This means that both copies of the gene are the same recessive allele, resulting in the expression of the recessive trait.
Homozygous dominant homozygous recessive?
Homozygous dominant individuals have two identical dominant alleles for a particular gene, resulting in the expression of the dominant trait. Homozygous recessive individuals have two identical recessive alleles, resulting in the expression of the recessive trait.
