Mutation analysis in Turkish patients with hereditary fructose intolerance.
Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European population. We found that nine of the patients carry the A149P mutation in both alleles, which corresponds to a frequency of about 55%. Single-strand conformation analysis of all coding exons of the gene was also performed to detect unknown mutations in four patients not carrying the three common mutations. No aberrant migration patterns were observed in these patients.
Dursun
A
A
Hacettepe University School of Medicine, Department of Pediatrics, Ankara, Turkey. adursun@hacettepe.edu.tr
Kalkanoğlu
H S
HS
Coşkun
T
T
Tokatli
A
A
Bittner
R
R
Koçak
N
N
Yüce
A
A
Ozalp
I
I
Boehme
H J
HJ
D000483:Alleles; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005633:Fructose Intolerance / Q000235:genetics* / Q000378:metabolism; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014421:Turkey
D004247:DNA; D005634:Fructose-Bisphosphate Aldolase