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 |