[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].

[phenylketonuria]

To investigate the feature of phenylalanine hydroxylase (PAH ) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi .For 55 patients whose blood Phe concentration was over 2 .0 mg /dL , potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing .A total of 98 mutations were detected in 110 PAH alleles , with the detection rate being 89 .10 %. Nine mutations have been identified in exon 7 , which accounted for 33 .67 % of all . Exon 12 (14 .29 %) and exon 3 (12 .24 %) have followed . Thirty eight mutations , locating in exon 2 -exon 12 and the flanking sequence , were detected in the 55 PKU patients . p .R 243 Q (24 .49 %) was the commonest mutation , whilstp .A 47 E , p .I 65 S and p .A 259 T were first discovered in China . After querying international databases including PAHdb and HGMD , the p .C 3 34 X was verified as the novel PAH gene mutation .The mutation spectrum of the PAH gene in Shaanxi has been identified . And a novel mutation has been identified . This may facilitate the diagnosis of PKU in the future .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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