title: [Genetic diagnosis for a family without exonic deletions and duplications of dystrophin gene].
abstract: OBJECTIVE
  To conduct genetic diagnosis for a family in which no exonic deletions and duplications of the dystrophin gene were detected.
  
  
  METHODS
  Potential exonic deletions and duplications of the dystrophin gene were initially analyzed with using multiplex ligation-dependent probe amplification (MLPA). Subsequently, all of the 79 exons of the dystrophin gene of the proband and a pregnant woman from the family were analyzed with PCR amplification and DNA sequencing. Following identification of the causative mutation, prenatal diagnosis was provided.
  
  
  RESULTS
  MLPA analysis had detected no exonic deletions and duplications of the dystrophin gene. Sequence analysis has identified a C>T mutation on the 22nd nucleotide position of the 70th exon of the dystrophin gene (c.10108 C>T), which has replaced the codon CGA to a stop codon (TGA). The patient's mother and sister were both heterozygous for the same mutation. Upon prenatal diagnosis, the fetus was found to be positive for the Y chromosome sex-determining gene (SRY) and has carried above mutation. The result of short tandem repeat linkage analysis also confirmed that the fetus has inherited the mutant X chromosome.
  
  
  CONCLUSIONS
  The causative mutation of the dystrophin gene has been discovered in an affected family, which has enabled prenatal diagnosis of the disease.
authors: Medical Genetics Institute of Henan Province, the People's Hospital of Henan Province, Zhengzhou, Henan 450003, P. R. China. Email: litao0510@163.com.
authors: Tao
authors: T
authors: Li
authors: Qiaofang
authors: Q
authors: Hou
authors: Dong
authors: D
authors: Wu
authors: Hongdan
authors: H
authors: Wang
authors: Hongyan
authors: H
authors: Liu
authors: Yangli
authors: Y
authors: Yang
authors: Chaoyang
authors: C
authors: Zhang
authors: Xuebing
authors: X
authors: Ding
authors: Shixiu
authors: S
authors: Liao
mesh_terms: D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation
chemical_list: D016189:Dystrophin