single-gene disorder


Also found in: Dictionary, Thesaurus.
Related to single-gene disorder: Hereditary diseases, Genetic diseases, inherited diseases

single-gene disorder

Genetics A hereditary disorder caused by a mutant allele of a single gene–eg, cystic fibrosis, Duchenne muscular dystrophy, hemophilia, Huntington's disease, retinoblastoma, sickle cell disease; SGDs typically describe classic simple Mendelian patterns of inheritance–autosomal dominant, autosomal recessive, X-linked. See Gene, Mutation. Cf Polygenic disorder.
References in periodicals archive ?
Finally, prenatal diagnostics might also prove useful to develop protocols for cord blood collection in view of potential cures of inherited single-gene disorders by using gene-editing techniques on hematopoietic stem cells (17, 18).
Single-gene disorders may be inherited as autosomal dominant (e.g.
This is the potential first step toward developing targeted "chromosomal therapies," something that was not thought to be feasible given the difficulty surrounding gene therapy for single-gene disorders.
As a result, after a few early successes with atypical single-gene disorders such as Huntington's disease, progress has stalled.
Actually in most of the cases, genetic mechanisms including cytogenetic abnormalities, single-gene disorders, and undetermined etiology syndromes are the major causes of the disease.3
A new strategic plan from an arm of the National Institutes of Health envisions scientists being able to identify genetic bases of most single-gene disorders and gaining new insights into multi-gene disorders in the next decade.
"It is incredibly important that single-gene disorders like Duchenne muscular dystrophy are not left behind in the rush to treat more widespread diseases like cancer or diabetes.
Over 200 conditions (Table 1) can be identified using PCR and FISH (Anonymous, 2004) and fall into three broad categories: chromosomal abnormalities, sex-linked disorders, and single-gene disorders.
Diseases such as cystic fibrosis, muscular dystrophy, and Huntington's disease are single-gene disorders. If a person inherits the mutated gene that causes one of these disorders, he or she will usually get the disease.
Should these individuals be treated in the same way as those with single-gene disorders, despite the lack of certainty, and allowed to decide whether they want to know the results and its implications or left to live out their lives in ignorance, until the symptoms of this or another disease, which might have been prevented, manifest or not?
Where genetic prediction of disease propensity is making a real difference is in the single-gene disorders such as cystic fibrosis, Huntington's disease, and muscular dystrophy.
It does not imply the degree of social pressure she implies, nor does it involve particularly "dangerous technologies." And while I share with Levy and Shannon a concern about "gene-hype," an example of where genes do have a powerful influence is single-gene disorders and immune reaction, against which we are able to select.