Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

The Journal of Molecular Diagnostics : JMD
Feras M HantashCharles M Strom

Abstract

Two mutations in the MCOLN1 mucolipidosis IV (ML IV) gene represent approximately 95% of the mutations in Ashkenazi-Jewish patients with ML IV. The mutations, a splice site mutation (IVS3-2A>G) and an approximately 6.4-kb deletion (511del6434), account for 72% and 23% of ML IV alleles in this population, respectively. An automated high-throughput assay was developed using the 5'-nuclease (TaqMan) method for the simultaneous detection of both mutations in a single reaction. Three fluorescent probes specifically detected wild-type, IVS3-2A>G, and 511del6434 alleles in each reaction real-time. Data collected were automatically analyzed, and genotype results were uploaded into a laboratory information management system. The assay was validated using genomic controls, demonstrating high robustness and accuracy. Carrier screening of 10,527 samples revealed 77 heterozygote carriers of IVS3-2A>G, 25 heterozygote carriers of 511del6434, and two compound heterozygote of both mutant alleles. The frequency of mutated alleles was 0.73% for IVS3-2A>G and 0.24% for 511del6434. The combined carrier frequency was 1:103 with predicted disease incidence of 1:42,436 individuals in this population, slightly lower than previously described frequenci...Continue Reading

References

Jul 21, 1999·Proceedings of the National Academy of Sciences of the United States of America·E GoldinR Schiffmann
Feb 15, 2002·American Journal of Human Genetics·Lisa EdelmannRuth Kornreich
Aug 17, 2002·Neurology·G AltarescuR Schiffmann
Sep 10, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Charles M StromWeimin Sun
Apr 30, 2005·Clinical Chemistry·Amy E Krafft, Jack H Lichy

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Citations

Feb 18, 2010·Pediatric Neurology·Joseph S GeerKenton R Holden
May 19, 2017·IET Systems Biology·Dong-Hyuk KimAh-Ram Kim
Jul 2, 2020·International Journal of Molecular Sciences·Aleksandra Jezela-StanekKarolina M Stepien

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