Genetic Disorders

Genetic disorders are a topic in biology that can not be avoided. The fact is that genetic disorders can happen in humans, plants or animal. No one and nothing is safe from a genetic disorder. A genetic disorder can appear in the first years off life, or can appear much later in life when least expected. A basic principal of biology states that the behavior of chromosomes during the meiosis process can account for genetic inheritance patterns. There are many reasons for genetic disorders. To start it is important to understand what a genetic disorder is. It is a mutation in the genetic material of a person. The mutant gene is transmitted through

birth. These genetic mutations can create serious complications and even death. It is important to understand how people get certain traits and genes. A person receives one set of chromosomes and genes from each person. That means each person inherits the traits. One gene may be more influential then another in developing specific traits. The more powerful gene is called the dominant gene and the less powerful is the recessive. A variation of a gene and the trait it controls, such as the color of ones eyes or hair is called in allele.

Most diseases have genetic disorders. A diseases springs from genetics that are passed along from the parents. So called genetic diseases can be classified in 3 ways single gene defects, chromosomal disorders and multi factorial. 1 in 200 births have single gene defects. There are over 6000 different known single gene disorders. These kind of disorders are characterized a by the way they are carried through family.

In dominant inheritance the child of a carrier has a fifty percent chance of

inheriting the gene. The parents of the children with genetic disorders are definitely carriers. While in recessive inheritance the parents do not necessarily have the gene. The chances vary with each generation of recessive genes. It also depends on the sex of the baby.

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 may or may not be heritable, i.e., passed down from the parents' genes. In non-heritable genetic disorders, 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 mainly by environmental causes in still other people. Whether, when and to what extent a person with the genetic defect or abnormality will actually suffer from the disease is almost always affected by environmental factors and events in the person's development. Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present.[1] Single gene disorder[edit] A single gene disorder is the result of a single mutated gene. Over 4000 human diseases are caused by single gene defects. Single gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting anduniparental disomy, however, may affect inheritance

patterns. The divisions between recessive and dominant types are not

"hard

and

fast",

although the divisions between autosomal and X-

linked types are (since the latter types are distinguished purely based on the chromosomal location of the gene). For example, achondroplasia is typically considered a dominant disorder, but children with two genes for achondroplasia have a severe skeletal disorder of which achondroplasics could be viewed as carriers. Sickle-cell anemia is also considered a recessive condition, but heterozygous carriers have increased resistance to malaria in early childhood, which could be described as a related dominant condition.[4] When a couple where one partner or both are sufferers or carriers of a single gene disorder and wish to have a child, they can do so through in vitro fertilization, which means they can then have a preimplantation genetic diagnosis to check whether the embryo has the genetic disorder.[5] Autosomal dominant[edit] Main article: Autosomal dominant#Autosomal dominant gene Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent.[6] The chance a child will inherit the mutated gene is 50%. Autosomal dominant conditions sometimes have

reduced penetrance, which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease,[7] neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, and hereditary

multiple exostoses,Tuberous sclerosis, Von Willebrand disease, acute intermittent porphyna which is a highly penetrant autosomal dominant disorder. Birth defects are also called congenital anomalies.

Autosomal recessive[edit] Main article: Autosomal dominant#Autosomal recessive allele Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. Examples of this type of disorder are Medium-chain fibrosis, sickle-cell acyl-CoA dehydrogenase deficiency, cystic

disease, Tay-Sachs

disease, Niemann-Pick

disease, spinal muscular atrophy, and Roberts syndrome. Certain other phenotypes, such as wet versus dry earwax, are also determined in an autosomal recessive fashion.[8][9] X-linked dominant[edit] Main article: X-linked dominant X-linked dominant disorders are caused by mutations in genes on the X chromosome. Only a few disorders have this inheritance pattern, with a prime example being X-linked hypophosphatemic rickets. Males and females are both affected in these disorders, with males typically being more severely affected than females. Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2 and Aicardi

syndrome, are usually fatal in males either in uteroor shortly after birth, and are therefore predominantly seen in females. Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will all be

unaffected (since they receive their father's Y chromosome), and his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected fetus with each pregnancy, although it should be noted that in cases such as incontinentia pigmenti, only female offspring are generally viable. In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely reproduce.[citation needed] X-linked recessive[edit] Genetic Disorders are medical conditions that are caused by an error in a person's genes. Some of them appear as a birth defect, while others do not become distinct until later in life. Genetic disorders can range from those that cause death to those that produce only mild problems, such as color blindness or an extra pinky. Scientists have distinguished more than 9,000 genetic disorders. Some are exceptionally rare while others are quite common. There are three types of genetic disorders. The first one is categorized as single-gene disorders. A second category of genetic diseases is chromosomal disorders which involves abnormalities of chromosomes in which too much or

too little chromosome material is present. The third category would be the Single-gene disorders result from errors within an individual gene. An example of one would be Huntington's disease. This condition affects 1 in 10,000 and usually doesn't affect the person until they are 30 or 40 years old. A person with this disease develops uncontrolled movements and may have problems with coordination, thinking, and judgment. A weakening of the nerve cells in the brain causes these symptoms and later results in death. Another single-gene disorder is the Tay Sachs Disease. People who inherit the faulty Tay Sachs gene lack a crucial enzyme that is needed to break down fatty substances in brain and nerve cells. As a result, these substances build up in such large quantities tha