title: [Application of multiplex ligation-dependent probe amplification in gene diagnosis of X-linked Alport syndrome].
abstract: OBJECTIVE
  To explore the application of multiplex ligation-dependent probe amplification (MLPA) in the gene diagnosis of X-linked Alport syndrome (XLAS).
  
  
  METHODS
  MLPA was used to detect and confirm large deletion mutations in COL4A5 gene in 3 XLAS patients with deletion mutation from cDNA.
  
  
  RESULTS
  Patient 1 had a deletion from exons 22 to 24 in COL4A5 gene, patient 2 a deletion of exon 30 in COL4A5 gene and patient 3 a deletion of exons 1 and 2 in COL4A5 gene and exons 1 and 2 in COL4A6 gene. All these mutations were detected by reverse transcription-polymerase chain reaction (RT-PCR) and MLPA coincidently.
  
  
  CONCLUSIONS
  As a new method for gene diagnosis of XLAS, MLPA can be used to detect large deletion mutations in COL4A5 gene.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Yan-qin
authors.initials: YQ
authors.lastname: Zhang
authors.forename: Dan
authors.initials: D
authors.lastname: Zhao
authors.forename: Li-xia
authors.initials: LX
authors.lastname: Yu
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D002648:Child; D024141:Collagen Type IV / Q000235:genetics; D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000235:genetics; D017384:Sequence Deletion
chemical_list: C478159:COL4A5 protein, human; D024141:Collagen Type IV