Genetics

Infertility - Fragile X syndrome - Chromosome Aneuploides - Celiac disease - Lactose intolerance - Gilbert's Syndrome
Huntington's Disease - Hemochromatosis - Muscular Distrophy - Myotonic Dystrophy - Chimerism

These kits focus on different genetic disorders which show a variety of symptoms but are all originating from genetics alterations. These alterations occur on specific genetic regions which are mapped and can be used to detect specific syndrome.

Infertility - (pdf info)

Multiple studies indicate that apprsoximately 15% of couples encouter infertility problems. Y-chromosomal microdeletions are the second most frequent genetic cause of infertility. Molecular diagnosis of Y-chromosomal deletions in men is associated with Azoospermia or severe Azoospermia. The following kits are reliable systems for the detection of AZF-a, AZF-b and AZF-c regions of the Y chromosome based on multiplex PCR.

Fragile X syndrome - (pdf info)

The Fragile X syndrome is the most common cause of inherited intellectual disability. Affected males present with mild to severe mental retardation with delay in language acquisition and/or behavioural problems being often the presenting symptoms. In addition to cognitive deficits, the FXS phenotype includes mild dysmorphic features and macroorchidism established around puberty. Behavioural disturbances including attention-deficit, hyperactivity, or autistic-like behaviour can often be observed. Approximately 50% of female carriers of the disease causing mutation will have mild to moderate mental disabilities.
It is caused by expansions of a (CGG) trinucleotide repeat in the 5’UTR of the FMR1 gene and subsequent abnormal methylation of neighboring CpG island leading to the loss of the protein product FMRP. Experteam offers complete system for the detection of FMR1 and FMR2 mutations on agarose gel as well as on a genetic sequencer (Applied Biosystems and Beckman Coulter).

Chromosome Aneuploides - (pdf info)

Chromosome aneuploidies kits are systems on QF-PCR (Quantitative Fluorescence Polymerase Chain Reaction) for the rapid determination of the following aneuploidies: autosomal (13, 18, 21) and sex (X, Y) chromosomes; autosomal (15, 16, 22) chromosomes ; chromosome 15 uniparental disomy (UPD15).

Celiac disease - (pdf info)

Celiac disease is a common multi-factorial enteropathy characterized by small intestine malabsorption and mucosal lesions resulting from ingestion of gluten. Celiac disease presents a strong association with major histocompatibility complex (MHC), in particular with HLA-DQ2 and HLA-DQ8 heterodimer. Over 90% of celiac patients carry the HLA-DQ2 heterodimer which is encoded by DQA1*05 and DQB1*02 alleles either in cis or in trans. Most DQ2 negative patients carries the heterodimer DQ 8 encoded by DBQA1*0301 and DB1*0302 alleles. Only a few number of celiac patients presents neither DQ2 heterodimer nor DQ8 heterodimer; many of them present only the β-chain of the DQ2 heterodimer.

Lactose intolerance - (pdf info)

Family studies have shown that adult lactase deficiency is an autosomal recessive trait. Two single nucleotide polymorphisms (SNPs), C-13910T and G-22018A, located upstream of the lactase gene (LCT), were recently identified. Experteam offers complete systems for allelic discrimination (genotyping) of LCT C-13910T and G-22018A.

Gilbert's Syndrome - (pdf info)

Gilbert’s syndrome also called zheel-BAYR syndrome, is the most common hereditary cause of increased bilirubin. Due to genetic failure to make the enzyme UGT1A1 that breaks down the bilirubin enzyme hyperbilirubinemia occurs. GS is found in up to 5% of the population. Experteam offers a complete system for genetic analysis of Gilbert’s syndrome.

Huntington's Disease - (pdf info)

Huntington’s disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. HD is caused by the expansion of an unstable polymorphic tri-nucleotide (CAG)n repeat in exon 1 of the HTT gene (4p16.3). Repeats of 36 or larger are associated with disease expression, whereas repeats of 26 and smaller are normal. Intermediate numbers of repeats, could be associated with reduced penetrance whereby some develop HD and others do not.

Hemochromatosis - (pdf info)

Hereditary hemochromatosis (HHC) is an inherited disorder of abnormal iron metabolism. Hereditary hemochromatosis is mainly caused by a defect in the HFE gene, which helps regulate the amount of iron absorbed from food. The three main mutations of HFE are C282Y, H63D and S65C. C282Y is the most frequent. Experteam offers a system for molecular analysis of these three main polymorphisms (C282Y,H-63D,S65C) of the HFE gene using real time PCR.

Muscular Dystrophy - (pdf info)

Duchenne or Becker muscular dystrophy (DMD, BMD) are severe neuromuscular diseases caused by inherited mutations of the gene coding for the Dystrophin protein. These X-linked disorders are characterized by variable degrees of muscle wasting and weakness.
With use of PCR-based assays Experteam allows genetic deletion detection of the most frequently deleted exons for most DMD/BMD patients. The deletion analysis is performed by multiplex PCR kits corresponding to the three different kits which amplify different exons. Kit 1 targets the exons spanning the two hot spot deletions regions and can detect almost all of the deletions. The lenght of these deletions will then be more precisely determined using kits 2 and 3.

Myotonic Dystrophy - (pdf info)

Myotonic dystrophy is a clinically and genetically heterogeneous disorders. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are both caused by unstable DNA sequences comprising repetitive elements in untranslated regions of a gene: a [CTG]n trinucleotide repeat sequence in the 3’ region of the DMPK gene located at chromosome 19q13, and a [CCTG]n tetranucleotide repeat in the first intron of the ZNF9 gene located at chromosome 3q21.
Experteam offers kits for the detection of DM1 and DM2 expanded alleles using “long range PCR”, “TP-PCR”, and Southern blotting as suggested by the guidelines “EMQN Best Practice Guidelines and Recommendations on Myotonic Dystrophy types 1 and 2”.

Chimerism - (pdf info)

Complete system to evalute genetic chimerism in bone marrow transplantation by analysis of STR (Short Tandem Repeat ) by capillary electrophoresis.
The allogenic transplantation of bone marrow (BMT) or stem cell from peripheral blood (BSTC) is the only possible approach for blood diseases both malignant or not malignant. The determination of chimerism after the transplantation is extremely important for monitoring the set up of donor cells and for early individuation of failure.