title: FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men.
abstract: BACKGROUND
  Fatty acid binding proteins (FABPs) are members of the intracellular li- pid binding protein (iLBPs) family and most of them show tissue specific expression. FABP9/PERF15 (Perforatorial15) is the male germ cell-specific fatty acid-binding pro- tein. It was first identified as the major constituent of the murine sperm perforatorium and perinuclear theca. To date, investigations in mice have demonstrated that this protein has a role in the male reproductive system, especially in spermatogenesis. Also, it has been reported that FABP9 can protect sperm fatty acids from oxidative damage. Recently it was shown that it can affect sperm morphology in mice. Based on these findings, we designed a study to evaluate if mutations of this gene can affect sperm morphology in humans.
  
  
  METHODS
  In this case-control study, DNA was extracted from peripheral blood of 100 infertile males with normal sperm count but with a number of morphologi- cally abnormal sperms in their semen that was above normal. Four exons and one intron of the FABP9 gene were amplified by polymerase chain reaction (PCR), re-sequenced and then analyzed for mutation detection.
  
  
  RESULTS
  We did not detect any mutation in any area of the four exons, intron 3 and splice sites of FABP9 gene in any of the studied 100 samples.
  
  
  CONCLUSIONS
  There was no mutation in the exonic regions and the poor sperm mor- phology. However, we didn't analyze the promoter, intron 1 and 2 to establish conclusions regarding the association of these genic regions and sperm dysmor- phology.
authors: Department of Biochemistry, Fasa University of Medical Sciences, Fasa, Iran.
authors: Javad
authors: J
authors: Jamshidi
authors: Department of Medical Genetics, Infertility and Reproductive Health Research Center (IRHRC), Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Farkhondeh
authors: F
authors: Pouresmaeili
authors: Department of Medical Genetics, Infertility and Reproductive Health Research Center (IRHRC), Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Hossein
authors: H
authors: Darvish
authors: Department of Medical Genetics, Infertility and Reproductive Health Research Center (IRHRC), Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Mir Davood
authors: MD
authors: Omrani
authors: Department of Community Medicine, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Eznollah
authors: E
authors: Azargashb
authors: Monoclonal Antibody Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
authors: Mohammad Reza
authors: MR
authors: Sadeghi
authors: Nanobiotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
authors: Niknam
authors: N
authors: Lakpour
keywords: FABP9; Fertility; Mutation; Sperm