Two unaffected people who each carry one copy of the mutated gene, (heterozygous), have a 25% chance with each pregnancy of having a child affected by the disorder.
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday. With a single diagnosed patient only, ribose-5-phosphate isomerase deficiency is presently considered the rarest genetic disease.
Tay–Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay–Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that commences around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells, eventually leading to the premature death of the cells. A ganglioside is a form of sphingolipid, which makes Tay–Sachs disease a member of the sphingolipidoses. There is no known cure or treatment.
The disease is named after the British ophthalmologist Waren Tay, who in 1881 first described a symptomatic red spot on the retina of the eye, and after the American neurologist Bernard Sachs of Mount Sinai Hospital, New York, who described in 1887 the cellular changes of Tay–Sachs disease and noted an increased disease prevalence in the Eastern European Ashkenazi Jewish population.
A genetic disorder is an illness caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most genetic disorders are quite rare and affect one person in every several thousands or millions.
Genetic disorders are heritable, and are passed down from the parents' genes. Other defects may be caused by new mutations or changes to the DNA. In such cases, the defect will only be heritable if it occurs in the germ line. The same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by nongenetic causes in still other people.
Health Medical Pharma
Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual. This mode of inheritance is in contrast to the inheritance of traits on autosomal chromosomes, where both sexes have the same probability of inheritance. Since humans have many more genes on the X than the Y, there are many more X-linked traits than Y-linked traits.
In mammals, the female is the homogametic sex, with two X chromosomes (XX), while the male is heterogametic, with one X and one Y chromosome (XY). Genes on the X or Y chromosome are called sex-linked.
autosomal recessive disorder
Science of drugs including their origin, composition, pharmacokinetics,
pharmacodynamics, therapeutic use, and toxicology.
Pharmacology (from Greek φάρμακον, pharmakon, "poison" in classic Greek; "drug" in modern Greek; and -λογία, -logia "study of", "knowledge of") is the branch of medicine and biology concerned with the study of drug action, where a drug can be broadly defined as any man-made, natural, or endogenous (within the body) molecule which exerts a biochemical and/or physiological effect on the cell, tissue, organ, or organism. More specifically, it is the study of the interactions that occur between a living organism and chemicals that affect normal or abnormal biochemical function. If substances have medicinal properties, they are considered pharmaceuticals.
In genetics, a recessive gene is an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele) and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father. If a genetic trait is recessive, a person needs to inherit two copies of the gene for the trait to be expressed. Thus, both parents have to be carriers of a recessive trait in order for a child to express that trait. Note that "expression" in this sense does not refer to expressiongenetic (i.e., transcription and translation) of the gene. Instead, "expression" here refers to the observance of the gene within the phenotype. If both parents are carriers, there is a 25% chance with each child to show the recessive trait in the phenotype. Thus if the parents are closely related (in-breeding) the probability of both having inherited the same gene is increased and as a result the probability of the children showing the recessive trait is increased as well.
The term "recessive gene" is part of the laws of Mendelian inheritance created by Gregor Mendel. Examples of recessive genes in Mendel's famous pea plant experiments include those that determine the color and shape of seed pods, and plant height.