Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich

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Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich The American Journal of Human Genetics Volume 70, Issue 4, Pages 1023-1027 (April 2002) DOI: 10.1086/339519 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Multiplex PCR of the MCOLN1 gene; 2% agarose gel showing the products that result from the multiplex PCR amplification of the MCOLN1 gene with the IVS3−2A→G and 511del6434 primer pairs. Note that the 511del6434 primers amplify a product only when the deletion is present. The American Journal of Human Genetics 2002 70, 1023-1027DOI: (10.1086/339519) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 ASOs of the two AJ MCOLN1 mutations. Shown are autoradiographs of dot blots hybridized with the normal IVS3−2A→G ASO (left), the mutant IVS3−2A→G ASO (middle), and the 511del6434 ASO (right). PCR samples 1–95 were amplified from genomic DNAs; sample 96 is the ddH2O control. Sample 1 was amplified from the IVS3−2A→G homozygote (GM02527), sample 8 was amplified from the 511del6434 homozygote (GM02525), samples 18 and 67 were amplified from carriers of the IVS3−2A→G mutation, and sample 49 was amplified from a carrier of the 511del6434 mutation. The American Journal of Human Genetics 2002 70, 1023-1027DOI: (10.1086/339519) Copyright © 2002 The American Society of Human Genetics Terms and Conditions