single gene disorder

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 ?
Combined Factor V and FVIII deficiency has an autosomal recessive inheritance and this condition is related with single gene disorder.
If your child had cystic fibrosis, a single gene disorder, would you like to use some genetic tool to remove the faulty gene?
The findings in Timothy syndrome patient iPSCs follow those in Rett syndrome, another single gene disorder that often includes autism-like symptoms.
It is not surprising that thalassaemia is the most common single gene disorder found in their descendents in Natal.
For example, results of a test for a single gene disorder might uncover a previously unknown change in the child's DNA.
The most common single gene disorder in India was beta thallassemia and Dr Verma was drawn to the idea of reducing the number of children born with this problem.
5m is expected to be made available over five years to support gene therapy research for cystic fibrosis which is the most common single gene disorder in the UK.
NeoGenomics' laboratory will perform such evaluations, by single gene disorder testing, carrier testing, and more.
As the precision of non-invasive prenatal screening using SNP technology has narrowed in on CNVs, this screening can then focus even further to single gene disorders.
Single gene disorders, such as cystic fibrosis, haemophilia, Huntington's disease and muscular dystrophy, can be detected using CVS.
The various chapters describe common pregnancy disorders, numerical chromosome disorders and structural chromosome disorders, single gene disorders inherited by fetuses, newborns and embryos.

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