Mutates is the simple answer. The mutation would have to cause significant changes resulting in either a loss of function or a novel function that causes distress or a risk to the well being of individual.
Genetic diseases are caused by a few things. Put very simply, they are caused by mutated genes that cannot function properly and lead to problems that effect your health. Most are caused by insertions of "junk" DNA into one of your genes, the loss of a gene or gene function, the loss of a whole chromosome or chromosomal arm (which can have many genes within them that get lost along with the chromosome) and sometimes you can have extra gene copies. Normally, these problems are inherited from one of your parents, you get 2 copies of your DNA, one from each of your parents. Genetic diseases can also be caused by damage to your DNA (which makes up the genes) that can happen over your life by things like UV damage from the sun and X-rays.
As genes code for proteins, many of which are essential to life, a defect in a gene could result in a deficiency or complete lack of a protein. This may be as small as one single nucleotide mutation, or may be a genetic defect involving an entire chromosome.
-Duchenne Muscular Dystrophy, for example, could occur due to a whole range of defects in the gene that codes for the protein dystrophin, a large rod-shaped protein in muscle fibers. Individuals with DMD therefore are prone to crippling muscular problems.
-Albinism involves a defect in the gene coding for the pigment melanin. In people with a normal gene for melanin, this protein is produces in the skin, eyes and hair, giving the range of yellows and browns we are familiar with. People with Albinism, however, have white skin with blue eyes and white/blonde hair because they lack the genetic instructions to make this pigment.
-Downs Syndrome is a condition involving a genetic defect of an entire chromosome. During gametogenesis, the mother's egg or father's sperm incorrectly inherits two copies of chromosome 21 during meiosis. When the two gametes fuse, the resulting cell therefore has 3 copies of chromosome 21, whereas healthy humans only have 2 copies of each. This can result in over-production of certain proteins, slowed or inhibited cellular replication, etc.
It is also important to remember that many genetic defects result in the fetus dying long before being born. Many defects cause essential proteins to be unable to be synthesised, or may otherwise inhibit this important growth phase, resulting in a miscarriage. Relatively few major genetic defects actually result in birth. Genetic 'mistakes' are of course essential and normal in the process of evolution. Sometimes good mutations occur, but often the mutations are bad.
DNA is the code for life, the blueprint for building an animal (human). If there is an error in that code then the animal (human) may not function properly and that is called a genetic disorder.
Cystic Fibrosis,Huntington's disease
what genetic mutation often lead to a disease
genes causes diseases by faulty genes
some mutations cause diseases.
The gene is mutated.
mutations in multiple genes
Several genetic disorders are caused by genes on the X chromosomes.
Several genetic disorders are caused by genes on the X chromosomes.
the mitochondrial mutations effect to those cells which have maternal inherritance character and the mutation is called poky mutation
Glaucoma is associated with mutations in several different genes: MYOC, ASB10, WDR36, NTF4, TBK1, OPA1 and OPTN. But most cases of glaucoma do not involve any genetic mutations.
Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes.
mutations in multiple genes
Autism is considered to be a genetic disorder because it is caused by a persons genes. It's linked to a number of individual genes and genetic mutations.
Several genetic disorders are caused by genes on the X chromosomes.
Several genetic disorders are caused by genes on the X chromosomes.
Genes produce proteins that cause traits.
the mitochondrial mutations effect to those cells which have maternal inherritance character and the mutation is called poky mutation
Glaucoma is associated with mutations in several different genes: MYOC, ASB10, WDR36, NTF4, TBK1, OPA1 and OPTN. But most cases of glaucoma do not involve any genetic mutations.
A mutated gene is just a gene that doesn't have the correct DNA or alleles.. Depending of the human disorder the gene that is mutated will be different... We use genes throughout our bodies but ALL genes can cause human disorders but there is NO single gene that, when mutated, creates ALL genetic modification...
are called mutations. Mutations in sex cells can be passed onto offspring and may result in genetic disorders or variations in characteristics.
The sex linked genes cause genetic disorders on the basis of gender. For example color blindness is human is located on the X chromosome and is reflected in males more frequently.
*Genetic* disorders, as the name says, are due to one's *genes*, ie, one's DNA. It is something that one is born with. They are not contagious.