title: [Genetic testing and prenatal diagnosis for eight families affected with Duchenne muscular dystrophy].
abstract: OBJECTIVE
  To optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD).
  
  
  METHODS
  Denaturing high-performance liquid chromatography (DHPLC), multiplex PCR (mPCR), sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.
  
  
  RESULTS
  Among the 8 cases, 4 have carried large deletions, 3 have point mutations, among which 6 were of de novo type. Prenatal diagnosis were offered for 5 families, the results showed that none of the fetuses had carried large deletions or point mutations. The pregnancies had continued and healthy babies were born.
  
  
  CONCLUSIONS
  Combined use of short tandem repeat, DHPLC, mPCR and sequencing can improve the detection of DMD gene mutations. By establishing and optimizing genetic and prenatal diagnostic methods, accurate genetic counseling can be provided for families affected with DMD.
authors.affiliation: Department of Obstetrics and Gynecology, Xijing Hospital, the 4th Military Medical University, Xi'an, Shaanxi 710032, P.R.China. zhzhhao@163.com.
authors.forename: Yu
authors.initials: Y
authors.lastname: Li
authors.forename: Jianfang
authors.initials: J
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Xu
authors.forename: Fenfen
authors.initials: F
authors.lastname: Guo
authors.forename: Hui
authors.initials: H
authors.lastname: Xu
authors.forename: Feng
authors.initials: F
authors.lastname: Yan
authors.forename: Juxia
authors.initials: J
authors.lastname: Ren
authors.forename: Detang
authors.initials: D
authors.lastname: Wang
authors.forename: Biliang
authors.initials: B
authors.lastname: Chen
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008969:Molecular Sequence Data; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000196:embryology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017384:Sequence Deletion; D055815:Young Adult