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D13S319 Plus Deletion

Applications
haematology
Catalogue Numbers
LPH 068 (10 tests)
LPH 068-S (5 tests)

Chromosome 13q abnormalities occur in 16-40% of multiple myeloma cases and are associated with poor prognosis1,2.

A case study has shown that in 90% of patients, the 13q14 region was affected and 68% also showed involvement of the 13q21 region – the critical region in all but 8 patients was narrowed down to 13q143. Deletions affecting 13q14 are also the most frequent structural genetic abnormalities in B-cell Chronic Lymphocytic Leukaemia (B-CLL)4. This region is found to be heterozygously deleted in 30-60% and homozygously deleted in 10-20% of CLL patients5. Recently though, the survival rate has been shown to be similar for the two groups6.

Two non-coding RNA genes, DLEU1 and DLEU2, and the genetic marker D13S319, span the pathogenic critical region of 13q147. DLEU1 is considered to be the most likely CLL-associated candidate tumour suppressor gene within the 13q14 region8. Subsequently, D13S319, located between the RB1 gene and D13S25 and within the DLEU1 locus, was found to be deleted in 44% of CLL cases9. It has also been postulated that a gene telomeric to the D13S319 region, encompassing D13S25, may be important in cases with hemizygous deletions and that this gene is a putative tumour suppressor gene10.

References

1. Bullrich F et al., Cancer Res 2001;61:6640-8

2. Zojer et al., Blood 2000;95(6):1925-1930

3. Shaughnessy J et al., Blood 2000;96:1505-11

4. Juliusson G et al., N Eng J Med 1990;323:720-4

5. Hammarsund M et al., FEBS Letters 2004;556:75-80

6. Van Dyke DL et al., Br J Haematology 2009;148:544-50

7. Liu Y et al., Oncogene 1997;15:2463-73

8. Wolf S et al., Hum Mol Genet 2001;10:1275-85

9. Liu Y et al., Blood 1995;86:1911-5

10. Bullrich F et al., Blood 1996;88(8):3109-15

Microscope Images

D13S319 Plus Deletion magnified
Area of Interest*
CLL, MM

Disclaimer

This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.