Table 3

Table 3 polymorphisms characteristics and position in MPS I Tunisians patient

Nucleotide change

cDNA position

gDNA position

Exon/intron

codon/nucleotide change

Restriction enzyme

References


GCC > GCA

112

606

Exon 1

A8A

(+ ) Eco47III

[13]


GCG > GCA

148

642

Exon 1

A20A

[11]


CAG > CAT

187

681

Exon 1

Q33H

(+) Nsp 7524I

[13]


CGG > CAG

402

441

Exon 3

R105Q

(+) AluNI

[2]


AAT > AAC

631

1332

Exon 5

N181N

[25]


GCG > GCC

1030

1946

Exon 7

A314A

[13]


ACC > ACG

1318

2587

Exon 9

T410T

[13]


GTC > ATC

1447

2716

Exon 9

V454I

[13]


CGC > TGC

1553

2911

Exon 10

R489R

[25]


ccg > cag

887+21

1836

Intron 6

IVS6+21c > a

(-)

    AciI

a


acg > atg

1060+79

2055

Intron 7

IVS7+79c > t

a


agc > acc

1061-45

2039

Intron 7

IVS7-45 g > c

a


ctg > ccg

1487+36

2756

Intron 9

IVS9+36t > c

(+) NciI

a


ggg > gtg

1612+53

3052

Intron 10

IVS10+53 g > t

[25]


gcg > gag

1612+140

3165

Intron 11

IVS10+140c > a

a


ccc > ctc

1720+33

3318

Intron 11

IVS11+33c > t

(-) MspI

a


gcc > gtc

1817+12

3420

Intron 12

IVS12+13c > t

(-)

    Sau96I

a


acc > agc

1819-32

3741

Intron 12

IVS12-31c > g

(+) BseYI

a


a: Novel sequence changes described in our patients.

Chkioua et al. Diagnostic Pathology 2011 6:39   doi:10.1186/1746-1596-6-39

Open Data