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Product summary

  • Chromosomes
    17
  • Labels    
  • Disease focus Constitutional
  • Regulatory status In vitro diagnostic. This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.
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Probe design Overview Product documentation Customer feedback

Probe design

17p13.3 (LIS1) / 17p11.2 (RAI1)

FISH chromosome map showing a probe targeting regions associated with Smith-Magenis (RAI1 gene) and Miller-Dieker syndromes. Expand image.

Overview

Probe specification

  • LIS1 (PAFAH1B1), 17p13.3, Red
  • RAI1, 17p11.2, Green

The Miller-Dieker (LIS1) probe is 117kb, labelled in red and covers the entire LIS1 (PAFAH1B1) gene. The Smith-Magenis (RAI1) probe is 158kb, labelled in green and covers the centromeric end of the RAI1 gene and includes the D17S258 marker. The two unique sequences act as control probes for each other and allow identification of chromosome 17.

 

Probe information

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly syndrome characterised by mental retardation, neurobehavorial abnormalities, sleep disturbances, short stature, minor craniofacial and skeletal anomalies, congenital heart defects and renal anomalies1,2.

It is one of the most frequently observed human microdeletion syndromes and is associated with an interstitial deletion of the chromosome band 17p11.22.

Molecular studies in SMS patients suggest a minimally deleted region (MDR) spanning approximately 700kb3,5, though the common deletion is around 4Mb in size4. The proximal boundary of the MDR is within a region of overlap between the FLII and LLGL1 genes, and the distal boundary within the PEMT gene3. Deletions or mutations in RAI1 (Retinoic Acid Induced 1) gene, which lies within the MDR, are associated with the syndrome3,5,6,7. RAI1 was shown to be the primary gene responsible for most features of SMS8,9.

Whilst deletion of the 17p11.2 region results in SMS, duplication of the same region results in a similar, yet distinct, disorder known as Potocki-Lupski syndrome10. Phenotypically this shares many similarities to SMS, though it is generally milder, but does have some unique clinical findings10.

The common duplication involves the same 4Mb region as the SMS deletion as both syndromes are mediated by non-allelic homologous recombination between flanking low copy repeat regions4.

Miller-Dieker syndrome (MDS) is a multiple malformation characterized by classical lissencephaly, a characteristic facial appearance andsometimes other birth defects11. It is associated with visible or submicroscopic rearrangements within chromosome band 17p13.3 in almost all cases12. Isolated lissencephaly sequence (ILS) consists of classical lissencephaly with no other major anomalies13. Submicroscopic deletions of chromosome 17p13.3 have been detected in almost 40% of these patients12.

MDS is considered a contiguous gene deletion syndrome where deletion of physically contiguous genes leads to the complex phenotypic abnormalities observed. The PAFAH1B1 (LIS1) gene is located at 17p13.3 and is recognised as the causative gene for the lissencephaly phenotype in both MDS and ILS14,15. Deletions in MDS patients always include the PAFAH1B1 gene, together with other telomeric loci to a distance in excess of 250kb14.

Fluorescence in situ hybridisation (FISH) microscope image of the CytoCell Smith-Magenis (RAI1)/Miller-Dieker probe.

Microscope image

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Product documentation

What our customers say about CytoCell probes...

Our lab has been using a wide range of CytoCell FISH probes for a number of years, and have been increasing this range all the time. The probes have clear bright signals and show good reproducibility. CytoCell provides fast delivery of catalogue probes, and are very responsive when we have any queries or problems with their products.

Bridget Manasse, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, UK.

Bridget Manasse

Addenbrookes Hospital, Cambridge University Hosiptals NHS Foundation Trust, UK

In our hands, CytoCell FISH probes have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. OGT's customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs.

Jennie Thurston, Director of Cytogenetics, Carolinas Pathology Group, USA.

Jennie Thurston

Director of Cytogenetics, Carolinas Pathology Group, USA

I first came across CytoCell FISH probes in a previous lab I worked in and I was struck by the quality of the products. Since this time, I have been recommending and introducing CytoCell probes across all application areas — now they are the primary FISH probes used in our lab. They have an excellent range of products and their ready-to-use reagent format saves considerable time.

Elizabeth Benner, Medical Technologist, University of Arizona Health Network, USA.

Elizabeth Benner

Medical Technologist, University of Arizona Health Network, USA

We have been working with CytoCell fish probes for two decades because of their excellent clarity and intensity regardless of the size of the probe. It is so clear and simple to detect.

Dr. Marina Djurisic

Head of Laboratory of Medical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Serbia

The quality and consistency of CytoCell’s probes means I can trust the results, and my clients get their results in a timely manner.

Dr. Theresa C. Brown, Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine, USA.

Dr. Theresa C. Brown

Director, Cytogenetics Laboratory, Hayward Genetics Center, Tulane University School of Medicine, USA

It was very important for us to have more consistent results with our probes — easy-to-read bright signals and a range of vial sizes, which is much more cost-effective.

Janet Cowan, Director of the Cytogenetics Laboratory, Tufts Medical Center, USA.

Janet Cowan, PhD

Director of the Cytogenetics Laboratory, Tufts Medical Center, USA

Not only do CytoCell offer an extensive range of high-quality FISH probes, the customer support is also excellent — providing fast access to all the probes I need. The probes are highly consistent with bright signals allowing easy scoring of results.

Dr. Eric Crawford

Senior Director, Genetics Associates Inc., USA

The quality and reproducibility of results using the CytoCell kit has been vital in accurately detecting co-deletions in our glioma investigations. We now have a cost-effective test that we can rely on that is also easy to use and interpret. We've been consistently impressed with this kit - not to mention the support offered by OGT's customer service, and have completely transitioned over to CytoCell probes.

Gavin Cuthbert, FRCPath

Head of Cancer Cytogenetics, Northern Genetics Servce, Newcastle, UK

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References

  1. Smith ACM et al., Am J Hum Genet 1986;24:393-414
  2. Stratton RF et al., Am J Med Genet 1986;24:421-32
  3. Vlangos CN et al., Am J Med Genet 2005;132A(3):278-82
  4. Lupski. Nature Genetics 2007; 39:S43 - S47
  5. Girirajan S et al., J Med Genet 2005;42:820-8
  6. Bi W et al., Am J Med Genet 2006;140(22):2454-63
  7. Slager RE et al., Nat Genet 2003;33:466-8
  8. Schoumans J et al., Eur J Med Genet 2005;48(3):290-300
  9. Girirajan S et al., Genet Med 2006;8(7):417-27
  10. Potocki et al., Am J Hum Genet 2007; 80 (4): 633–649
  11. Dobyns WB et al., Am J Hum Genet 1991;48:584-94
  12. Dobyns WB et al., J Am Med Assoc 1993;270:2838-42
  13. Dobyns WB et al., Neurology 1992;42:1375-88
  14. Chong SS et al., Hum Mol Genet 1997;6(2):147-55
  15. Lo Nigro C et al., Hum Mol Genet 1997;6(2):157-64