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Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood

✍ Scribed by Ramos, Sebasti�n M.; Hern�ndez, Mariano; Roces, Alfredo; Larruga, Jos� M.; Gonz�lez, Pedro; Gonz�lez, Ana M.; Pinto, Francisco M.; Cabrera, Vicente M.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
15 KB
Volume
78
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980630)78:2<192::aid-ajmg20>3.0.co;2-h

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✦ Synopsis

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; = 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.

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