Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood.
Alkaptonuria (AKU) is caused by lack of homogentisate 1, 2 dioxygenase (HGO) activity. From the complete sequence of a human HGO cDNA, primers were designed in order to obtain reverse transcription-polymerase chain reaction products from tissues with ectopic transcription amenable to diagnostic analysis. A search for mutations in HGO cDNA was performed in an AKU family using urine and blood samples. The results show complete cosegregation (Z = 6.32; theta = 0) between a C-->T transition at position 817 of the human HGO cDNA and AKU. This mutation predicts a Pro-->Ser replacement at amino acid 230, and generates an EcoRV site.
Rheumatology Section, Hospital Nuestra Señora La Candelaria, Canary Islands, Spain.
S M
SM
Ramos
M
M
Hernández
A
A
Roces
J M
JM
Larruga
P
P
González
A M
AM
González
F M
FM
Pinto
V M
VM
Cabrera
D000474:Alkaptonuria / Q000097:blood / Q000201:enzymology* / Q000235:genetics* / Q000652:urine; D019943:Amino Acid Substitution; D049308:Dioxygenases; D005260:Female; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D008297:Male; D010105:Oxygenases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011392:Proline / Q000235:genetics*; D012333:RNA, Messenger; D012694:Serine / Q000235:genetics*
D012333:RNA, Messenger; D012694:Serine; D011392:Proline; D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase