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Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. 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]
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.
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. [16]
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
About 3,000 human genes cannot tolerate loss of one of the two alleles. [1] An example of this is seen in the case of Williams syndrome, a neurodevelopmental disorder caused by the haploinsufficiency of genes at 7q11.23. The haploinsufficiency is caused by the copy-number variation (CNV) of 28 genes led by the deletion of ~1.6 Mb. These dosage ...
One example of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This mutation results in skeletal, craniofacial abnormalities, mental retardation, and short stature. X chromosomes in females undergo a process known as X inactivation. X inactivation is when one of the two X chromosomes in ...
This is an accepted version of this page This is the latest accepted revision, reviewed on 29 December 2024. Science of genes, heredity, and variation in living organisms This article is about the general scientific term. For the scientific journal, see Genetics (journal). For a more accessible and less technical introduction to this topic, see Introduction to genetics. For the Meghan Trainor ...
In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. [1] Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. [2]