These changes--often indicative of fructose intolerance--were correlated to a damaging mutation in ALDOB
(aldolase, fructose-bisphosphate B), which encodes the fructose-bisphosphate aldolase in the sorbitol degradation pathway.
Sheep gene mapping: Assignment of ALDOB
, CYP19, WT and SOX2 by somatic cell hybrid analysis.
Molecular Biology schemes: Factor V-Leiden, prothrombin, MTHFR, PAII (SERPINE1), factor XIII (F13A1), GPIIIa (1TGB3), [3Fib (FGB), VKORC1, Factor XII (F12), a1 PI, APOE, APOB, ACE, CETP, TPMT, CYP2C19, CYP2D6, CYP2C8, CYP2C9, UGT1A1 , DPD (DPYD), BCHE, ALDOB
, HFE, LCT, NOD2, ATP7B, FSAP (HABP2), ITGA2, KRAS.
Direct sequencing of exons 5 and 9 of the ALDOB gene (aldolase B, fructose-bisphosphate) (2) confirmed HFI due to a homozygous G>C transition in exon 5.
We recommend that the laboratory instead perform genetic testing for HFI, which leads to a definitive diagnosis in most cases, because only 3 missense mutations in the ALDOB gene account for 85%-95% of the HFI alleles in different Caucasian populations (A149P, A174D, and N334K) (9, 10).
7] Human genes: GALNT3, UDP-N-acetyl-[alpha]-D-galactosamine: polypeptide-N-acetylgalactosaminyltransferase 3; COG7, component of oligomeric golgi complex 7; LMNA, lamin A/C (previous symbols: LMN1, CMD1A); MGAT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase; GCS1, glucosidase; SLC35C1, solute carrier family 35, member C1; B4GALT1, UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypepfide 1; SLC35A1, solute carrier family 35 (CMP-sialic acid transporter), member A1; POMGNTI, protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase; GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; GALT, galactose-1-phosphate uridylyltransferase; ALDOB
, aldolase B, fructose-bisphosphate.