[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].

[phenylketonuria]

To determine the type and frequency of phenylalanine hydroxylase gene (PAH ) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU ).For 35 PKU children patients and 50 healthy individuals , all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing .Twenty mutations , including 8 missense mutations (40 %), 5 nonsense mutations (25 %), 4 splice site mutations (20 %) and 3 deletion mutants (15 %) were discovered . The overall detection rate was 68 .57 % (48 /70 ). Common mutations have included R 243 Q (12 .86 %), R 241 C (11 .43 %), EX 6 -96 A to G (5 .71 %), Y 356 X (5 .71 %), R 413 P (4 .29 %) and Q 232 X (4 .29 %), whilst rarer ones have included S 16 fsX 10 (2 .86 %), R 111 X (2 .86 %) and L 430 P (2 .86 %). Among these , S 16 fsX 10 , L 430 P , D 222 G and IVS 11 + 1 G to A have not been reported previously . Y 414 X and S 303 fsX 38 have not been reported in Hui ethnic group . No mutation was detected in the 50 normal controls .The types and distribution of PAH gene mutations in ethnic Hui from Ningxia have been different from other areas of China . The mutations also showed a rich diversity .

Diseases
Validation

Diseases presenting "common mutations" symptom

alexander disease

alpha-thalassemia

congenital adrenal hyperplasia

dentinogenesis imperfecta

familial mediterranean fever

gm1 gangliosidosis

homocystinuria without methylmalonic aciduria

krabbe disease

lamellar ichthyosis

phenylketonuria

primary hyperoxaluria type 1

x-linked adrenoleukodystrophy

zellweger syndrome

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