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However, further testing is required for variations of Smith–Magenis syndrome that are caused by a mutation of the RAI1 gene as opposed to a deletion. Children with SMS are often given psychiatric diagnoses such as autism , attention deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), attention deficit disorder (ADD ...
A selectable marker is a gene introduced into cells, especially bacteria or cells in culture, which confers one or more traits suitable for artificial selection.They are a type of reporter gene used in laboratory microbiology, molecular biology, and genetic engineering to indicate the success of a transfection or transformation or other procedure meant to introduce foreign DNA into a cell.
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep disorders and mood swings. [1] [2] It was identified in fourteen males from one family in 1993.
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.
Zellweger syndrome is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes. Most commonly, patients have mutations in the PEX1 , PEX2 , PEX3 , PEX5 , PEX6 , PEX10 , PEX12 , PEX13 , PEX14 , PEX16 , PEX19 , or PEX26 genes. [ 8 ]
Genetic markers can be used to study the relationship between an inherited disease and its genetic cause (for example, a particular mutation of a gene that results in a defective protein). It is known that pieces of DNA that lie near each other on a chromosome tend to be inherited together.
Snijders Blok–Campeau syndrome is a genetic disorder caused by mutations in the CHD3 gene. [1] It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain distinctive facial features. [2]
WHIM syndrome results from autosomal dominant mutations in the gene for the chemokine receptor, CXCR4, [1] [2] resulting in a carboxy-terminus truncation of the receptor of between 10 and 19 residues. The gene mutant is located on 2q21. The truncation of the receptor protein results in the inability of downregulation after stimulation.