title: [Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].
abstract: OBJECTIVE
  To determine the type and frequency of phenylalanine hydroxylase gene (PAH) mutations in ethnic Hui patients from Ningxia with phenylketonuria (PKU).
  
  
  METHODS
  For 35 PKU children patients and 50 healthy individuals, all exons and promoters of the PAH gene were analyzed with PCR and direct sequencing.
  
  
  RESULTS
  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 R243Q (12.86%), R241C (11.43%), EX6-96A to G (5.71%), Y356X (5.71%), R413P(4.29%) and Q232X(4.29%), whilst rarer ones have included S16fsX10 (2.86%), R111X (2.86%) and L430P (2.86%). Among these, S16fsX10, L430P, D222G and IVS11+ 1G to A have not been reported previously. Y414X and S303fsX38 have not been reported in Hui ethnic group. No mutation was detected in the 50 normal controls.
  
  
  CONCLUSIONS
  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.
authors: Maternal and Child Health Hospital of Ningxia Hui Autonomous Region, Yinchuan, Ningxia 750004, P.R. China. yuwz2013@126.com.
authors: Xinmei
authors: X
authors: Mao
authors: Jiang
authors: J
authors: He
authors: Yuan
authors: Y
authors: Liu
authors: Xiaoqiang
authors: X
authors: Li
authors: Wuzhong
authors: W
authors: Yu
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*
chemical_list: D010651:Phenylalanine Hydroxylase