[The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers].

[classical phenylketonuria]

To increase the success rate of prenatal diagnosis for classical phenylketonuria (PKU ).Three new short tandem repeat (STR ) markers (PAH 26 , PAH 32 and PAH 9 ) within and surrounding phenylalanine hydroxylase (PAH ) gene were selected for amplified fragment length polymorphism . The allele frequencies and polymorphism information contests (PIC ) were determined in Chinese population .T he PIC of these three new STR markers was 0 .518 (PAH 26 ), 0 .413 (PAH 32 ) and 0 .362 (PAH 9 ) respectively . There was linkage disequilibrium between PAH 9 marker and PAH -STR marker (TCTA )n in the intron 3 of PAH gene . The linkage phase of the mutant genes and the markers was established using the combination of PAH -STR , PAH 26 and PAH 32 in 95 % families . Prenatal diagnosis was performed successfully with these markers in four cases .By selecting or combining the three STR markers , the mutant genes could be distinguished from the normal allele in up to 95 % of families with classical PKU .

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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