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. 2010 May;100(1):100-2.
doi: 10.1016/j.ymgme.2009.12.017. Epub 2010 Jan 4.

False-positive results using a Gaucher diagnostic kit--RecTL and N370S

Jae Hyuk Choi  1 , Arash Velayati, Barbara K Stubblefield, Avi Orr-Urtreger, Ziv Gan-Or, Nahid Tayebi, Ellen Sidransky
Affiliations

False-positive results using a Gaucher diagnostic kit--RecTL and N370S

Jae Hyuk Choi et al. Mol Genet Metab. 2010 May.

Abstract

The Pronto Gaucher kits and Pronto Gaucher RecTL Amplification Mix, marketed to identify mutations in the gene for glucocerebrosidase, are widely used for the diagnosis of Gaucher disease. Subjects genotyped using this kit have been reported with an allele including both the common N370S mutation and RecTL, a previously described Gaucher mutation arising from recombination between the glucocerebrosidase gene and pseudogene. Using direct sequencing and real-time PCR, we show that the RecTL, N370S allele is a false positive result, demonstrating possible pitfalls of diagnostic kits.

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Figure 1
Figure 1
RT-PCR evaluation of patients with Gaucher disease and a control (WT: normal control; P1, P2: patients reported to have “RecTL/N370S”; “P3, P4: patients reported to have “RecTL, N370S/+”; P5: patient with a duplication in exon 9 (which leads to a duplication of the 55bp region); P6: patient with a fusion in exon 9 (which leads to a deletion of the 55bp region). (Relative quantization of <0.5 considered as deletion, 0.75–1.25 normal and >2.0 as duplication.)
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