title: [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
abstract: OBJECTIVE
  To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria.
  
  
  METHODS
  By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene.
  
  
  RESULTS
  Thirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected.
  
  
  CONCLUSIONS
  Prenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.
authors.affiliation: Gansu Provincial Maternal and Child Health Care Hospital, Gansu Provincial Medical Genetics Center, Gansu Provincial Prenatal Diagnosis Center, Lanzhou, Gansu 730050, P. R. China. hsz_pumc@ibms.pumc.edu.cn.
authors.forename: Yousheng
authors.initials: Y
authors.lastname: Yan
authors.forename: Shengju
authors.initials: S
authors.lastname: Hao
authors.forename: Fengxia
authors.initials: F
authors.lastname: Yao
authors.forename: Qingmei
authors.initials: Q
authors.lastname: Sun
authors.forename: Lei
authors.initials: L
authors.lastname: Zheng
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Zhang
authors.forename: Chuan
authors.initials: C
authors.lastname: Zhang
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.forename: Shangzhi
authors.initials: S
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000201:enzymology* / Q000235:genetics; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055815:Young Adult
chemical_list: D010651:Phenylalanine Hydroxylase