Skip to main content

Table 2 Restriction enzyme test for 4 known mutations in MPS I patients

From: A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

Patients Mutation Primers Restriction enzyme Fragment size (bp)
Infant A R105Q F: 5′-CCTTCTGCAGGGGGTCCACTGT-3′ Bsr GI N: 286
Infant A-father (exon3) R: 5′-CAAACCCTGGAACACAGGAG-3′   M: 286 + 262 + 24
Infant A R162K F: 5′-ACCCACCTGGACGGGTACCGG-3′ Apo I N: 357
Infant A-mother (exon4) R: 5′-TGCGCTCGCCCACCGATGAAT-3′   M: 357 + 339 + 18
Infant B D119Y F: 5′-CATACCAGGCCTTCATAGGG-3′ Bsr GI N: 251
Infant B-father (exon3) R: 5′-TGGTTCTCCCTGAGAATGT-3′   M: 251 + 234 + 17
Infant B H33Q F: 5′-GAGGCCCCGCACCTGCTGCA-3′   N: 174
Infant B-mother (exon1) R: 5′-GCTCCGGTCTCTGAAGCTCT-3′ Pst I M: 174 + 154 + 20