title: Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.
abstract: OBJECTIVE
  Alport syndrome (AS) is a progressive renal disease characterized by haematuria and progressive renal failure. An accurate genetic diagnosis of AS is very important for genetic counselling and even prenatal diagnosis.
  
  
  METHODS
  We detected mutation of COL4An by amplifying the entire coding sequence mRNA of peripheral blood lymphocytes using polymerase chain reaction (PCR) in five Chinese AS families who asked for genetic counselling and prenatal diagnosis, then performed prenatal genetic diagnosis for four families. Mutation analysis of the foetus was made using DNA extracted from amniocytes. Foetus sex was determined by PCR amplification of SRY as well as karyotype analysis. Maternal cell contamination was excluded by linkage analysis.
  
  
  RESULTS
  Four different COL4A5 gene variants and two COL4A3 gene variants were detected in the five families. Because there was a de novo mutation in family 2, prenatal diagnosis was performed for the other four families. Results showed a normal male foetus for family 1 and family 4, respectively. Results showed an affected male foetus for families 3 and 5, and the pregnancies were terminated.
  
  
  CONCLUSIONS
  An easier, faster and efficacious method for COL4An gene mutation screening based on mRNA analysis from peripheral blood lymphocytes was established. Prenatal genetic diagnosis was performed in four AS families in China.
authors.affiliation: Department of Paediatrics, Peking University First Hospital, Beijing, China.
authors.forename: Hongwen
authors.initials: H
authors.lastname: Zhang
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.forename: Dan
authors.initials: D
authors.lastname: Zhao
mesh_terms: D000028:Abortion, Induced; D000649:Amniocentesis; D044466:Asian People / Q000235:genetics*; D001324:Autoantigens / Q000235:genetics; D002681:China; D024141:Collagen Type IV / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D008214:Lymphocytes / Q000737:chemistry*; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000097:blood / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012333:RNA, Messenger / Q000097:blood*; D012732:Sex Determination Analysis
chemical_list: D001324:Autoantigens; C466620:COL4A4 protein, human; C478159:COL4A5 protein, human; D024141:Collagen Type IV; D012333:RNA, Messenger; C057112:type IV collagen alpha3 chain