DNA Variants of Aldolase B
As of 1991, eight structural defects of the aldolase B gene have been identified in HFI patients.
Mutations of the Aldolase Be Gene in Hereditary Fructose Intolerance
| Mutation | DNA Change | Protein Change | Frequency | Occurrence |
|---|---|---|---|---|
| A149P | G -> C exon 5 | Ala -> Pro | 67% | Europe |
| A174D | C -> A exon 5 | Ala -> Asp | 16% | Europe |
| C240stop | C -> A exon 7 | Truncation AA 240 | 2 alleles | |
| G12 | Deletion of gGTA intron 2/exon 3 | Splice site loss | 2 alleles | |
| F13 | Deletion 1.65 kb intron 3/exon 5 | Truncation | 1 allele | |
| d4 | Deletion of CAAA exon 4 | Truncation AA 132 | 1 allele | |
| G10 | Deletion 1.4 kb intron 5/exon 5 | Truncation | 1 allele | |
| L288dC | Deletion of C exon 8 | Truncation AA 296 | 3 alleles |
While the majority of aldolase B alleles among patients with HFI could be identified with simple noninvasive screening methods, among Caucasians of Northern European descent, as many as 29% of the subjects studied were compound heterozygotes for some other as yet unidentified mutations. Whether the remaining mutations are few or numerous and varied remains to be determined. In the meantime, European investigators suggest that the four reported mutations most common among European subjects could be easily screened for with a diagnostic kit containing allele specific oligonucleotide probes.
Read more about this topic: Fructose Intolerance
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