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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