Genetic disorder

related topics
{disease, patient, cell}
{specie, animal, plant}
{woman, child, man}
{son, year, death}

A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments.[1]

Contents

Single gene disorder

A single gene disorder is the result of a single mutated gene. There are estimated to be over 4000 human diseases caused by single gene defects. Single gene disorders can be passed on to subsequent generations in several ways. Genomic imprinting and uniparental 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 that achondroplasics could be viewed as carriers of. 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.[citation needed] 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 IVF which means they can then have PGD (pre-implantation genetic diagnosis) to check whether the fertilised egg has had the genetic disorder passed on.[4]

Full article ▸

related documents
Endometrium
Colon (anatomy)
Diphtheria
Heart
Valproic acid
Psilocybin
Defecation
Arthritis
Essential tremor
Aphrodisiac
Mantoux test
Streptococcal pharyngitis
Vitiligo
Pharmacology
Abetalipoproteinemia
General surgery
Neuroleptic malignant syndrome
Coxsackie A virus
Myopia
Opiate
MMR vaccine
Cretinism
Mastocytosis
Myelin
Neurotransmitter
Acute disseminated encephalomyelitis
Serotonin syndrome
Optic nerve
Respiratory therapy
Lafora disease