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DNA damage is an abnormal chemical structure in DNA, while a mutation is a change in the sequence of base pairs. DNA damages cause changes in the structure of the genetic material and prevents the replication mechanism from functioning and performing properly. [1]
However, it is debatable whether changes in bodily functions due to disorders that are partly or wholly genetic in origin are actually "acquired". Wholly genetic disorders, such as Huntingtons, are inherited from parents' genes and are present before birth but the symptoms that develop after birth are delayed manifestations of the inherited trait.
The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and Angelman syndrome. Both syndromes are associated with loss of the chromosomal region 15q11-13 (band 11 of the long arm of chromosome 15).
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
In these cases, it is indicated that the affected organism presents genome instability (also genetic instability, or even chromosomic instability). The process of genome instability often leads to a situation of aneuploidy, in which the cells present a chromosomic number that is either higher or lower than the normal complement for the species.
X-linked genes are found on the sex X chromosome. X-linked genes just like autosomal genes have both dominant and recessive types. Recessive X-linked disorders are rarely seen in females and usually only affect males. This is because males inherit their X chromosome and all X-linked genes will be inherited from the maternal side.
Genetic disorders are diseases that are caused by a single allele of a gene and are inherited in families. These include Huntington's disease , cystic fibrosis or Duchenne muscular dystrophy . Cystic fibrosis, for example, is caused by mutations in a single gene called CFTR and is inherited as a recessive trait.
Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3] There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [6]