title: [Application of capillary non-gel sieving electrophoresis to the analysis of short tandem repeat in phenylalanine hydroxylase gene and gene diagnosis of phenylketonuria].
abstract: OBJECTIVE
  To establish a sensitive, accurate and reliable method for analysis of short tandem repeat (STR) markers for gene diagnosis, capillary electrophoresis (CE) was used for analysis of a polymorphic tetranucleotide (TCTA)n in intron 3 of the phenylalanine hydroxylase (PAH) gene.
  
  
  METHODS
  Capillary non-gel sieving electrophoresis (CNGSE) system was used to analyze PCR products of PAH STR among 61 normal Chinese individuals and 6 phenylketonuria (PKU) families.
  
  
  RESULTS
  The PCR fragments that differ 4 bp from each other were well separated by CNGSE. Ten alleles were identified, with a continuous distribution from 224 bp to 260 bp. The largest allele (260 bp) was first detected in Chinese population. The alleles frequencies were calculated and PIC is 0.738. The genotypes of PAH STR of total 80 Chinese people were also analyzed and the heterozygosity is 75%. We used this procedure to PAH gene linkage analysis in 6 PKU families, in which pathogenic gene could be affirmed in 3 families, including one case of prenatal diagnosis.
  
  
  CONCLUSIONS
  In comparison with denaturing polyacrylamide gel electrophoresis, CE is an accurate, rapid, automatic and with high resolution analytical tool. CE in combination with PCR is a hopeful technique and might be widely used for gene diagnosis of genetic diseases in the future.
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005.
authors.forename: Q
authors.initials: Q
authors.lastname: Xu
authors.forename: F
authors.initials: F
authors.lastname: Song
authors.forename: F
authors.initials: F
authors.lastname: Han
authors.forename: B
authors.initials: B
authors.lastname: Lin
authors.forename: Y
authors.initials: Y
authors.lastname: Shen
mesh_terms: D000483:Alleles; D044466:Asian People; D019075:Electrophoresis, Capillary / Q000379:methods; D005787:Gene Frequency; D006801:Humans; D010375:Pedigree; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis; D020080:Tandem Repeat Sequences; D044465:White People
chemical_list: D010651:Phenylalanine Hydroxylase