Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

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

ISSN: 1746-1596