single gene disorder

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single gene disorder

A hereditary disorder caused by a mutant allele of a single gene—e.g., achondroplastic dwarfism, autosomal dominant polycystic kidney disease, cystic fibrosis, Duchenne muscular dystrophy, familial polyposis coli, haemophilia, Huntington’s disease, retinoblastoma, sickle cell disease, etc.
References in periodicals archive ?
Apart from fetal aneuploidies, single gene disease is the other reason why some pregnant women consider prenatal diagnosis.
We assessed the feasibility of using this protocol for the noninvasive prenatal assessment of a number of autosomal and X-linked diseases, showing that this streamlined approach enabled noninvasive detection of single gene disease inheritance without the need to design bespoke assays to assess mutations on a case-by-case basis (22, 23) and only required the use of specimens from the parents.
Instead, a series of probes for the target capture of SNPs surrounding of a group of clinically important single gene disease loci could be prestocked in the laboratory.
Using this approach, the fetal mutation profiles in 12 of 13 families, at risk for a range of single gene diseases, were successfully deduced.
Thus, the workflow for the prenatal screening and detection of single gene diseases would be much more streamlined.
Advances in the treatment of single gene disease such as Cystic Fibrosis will revolutionize the healthcare field for certain individuals (The Futurist, 1989).
A proof-of-concept study for the novel NIPT approach was published in an article, Universal haplotype-based noninvasive prenatal testing for single gene diseases, in Clinical Chemistry by Dr.
The ability of developing human embryos to accept blastomere transplants and integrate them into their architecture offers proof-of-principle that single gene diseases might be treatable at the embryonic stage of life, according to a report in the April issue of Fertility & Sterility.
And while for most diseases, particularly complex common diseases, genetic data are just another form of medical data, they are highly predictive for rare single gene diseases, and therefore beneficial.
In contrast to single gene diseases where inheritance patterns are relatively simple, the pattern in MS is much more complex.

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