The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
OBJECTIVE
Classical galactosemia (McKusick 230400) is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT;EC 2.7.7.10) gene.


METHODS
In the present study, we report molecular analysis of 14 unrelated Iranian galactosemia children with reduced or without GALT activity using PCR-RFLP and SSCP-Sequencing methods.


RESULTS
Q188R mutation was the most observed mutation with the allelic frequency of 57.1%. The allelic frequencies for S135L, Y209S, A320T, and K285N were found to be 7.1%, 7.1%, 7.1%, and 3.57% respectively.


CONCLUSIONS
Our results show that galactosemia is a heterogeneous disorder at the molecular level among the Iranian population.
Mirzajani
F
F
National Institute of Genetic Engineering and Biotechnology, Tehran, IR, Iran. farzanm@nrcgeb.ac.ir
Mirfakhraie
R
R
Nabati
F
F
Tabatabaei
N Naghibzadeh
NN
Talachian
E
E
Houshmand
M
M
D005693:Galactosemias / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D007492:Iran; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase