[Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].

[classical phenylketonuria]

To study the characteristics of the phenylalanine hydroxylase gene (PAH ) mutations in patients with phenylketonuria (PKU ) in Henan province , in order to provide basic information for genetic counseling and prenatal diagnosis .Mutations of the PAH gene were detected in exons 1 -13 with flanking introns of PAH gene by PCR and DNA sequencing in 47 families with PKU .A total of 25 different mutations were detected in 83 out of 94 PAH alleles (88 .3 %). Among them , E 79 fX 13 , H 271 R and D 415 Y have not been reported previously . It was the first time that IVS 10 -14 C to G mutation was reported in Chinese PKU population . The mutations p .R 243 Q , EX 6 -96 A to G , p .Y 356 X , IVS 401 G to A , p .R 111 X , p .V 399 V and p .R 413 P , were the prevalent mutations with relative frequencies of 20 .5 %, 12 .0 %, 9 .6 %, 9 .6 %, 8 .4 %, 8 .4 % and 7 .2 % respectively .The mutations of the PAH gene in patients with classical phenylketonuria in Henan province were similar to that in other areas of China . Prenatal gene diagnosis for PKU by PAH gene sequencing is efficient for most PKU families .

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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