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Single Nucleotide Polymorphism Analysis of Protamine Genes in Infertile Men



Salamian A1 ; Ghaedi K2, 3 ; Razavi S4 ; Tavalaee M1 ; Tanhaei S3 ; Tavalaee M1 ; Salahshouri I5 ; Gourabi H5 ; Nasresfahani MH3, 6
Authors
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Authors Affiliations
  1. 1. Biology Department, Imam Hossein University, Tehran, Iran
  2. 2. Biology Department, University of Isfahan, Isfahan, Iran
  3. 3. Andrology and Embryology Department, Reproductive Medicine Research Center, Royan Institute, Tehran, P.O. Box 19395-4644, Iran
  4. 4. Anatomy Department, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Genetics Department, Cell Sciences Research Center, Royan Institute, Tehran, P.O. Box 19395-4644, Iran
  6. 6. Isfahan Fertility and Infertility Center, Isfahan, Iran

Source: International Journal of Fertility and Sterility Published:2008

Abstract

Background: Single nucleotide polymorphism (SNPs) are considered as one of the underlying causes of male infertility. Proper sperm chromatin packaging which involves replacement of histones with protamines has profound effect on male fertility. Over 20 SNPs have been reported for the protamine 1 and 2. Materials and Methods: The aim of this study was to evaluate the frequency of two previously reported SNPs using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) approach in 35, 96 and 177 normal, oligozoospermic and azoospermic individuals. These SNPs are: 1. A base pair substitution (G) at position 197 instead of T in protamine type 1 Open reading frame (ORF) including untranslated region, which causes an Arg residue change to Ser residue in a highly conserved region. 2. cytidine nucleotide change to thymidine in position of 248 of protamine type 2 ORF which caused a nonsense point mutation. Results: The two mentioned SNPs were not present in the studied population, thus concluding that these SNPs can not serves as molecular markers for male infertility diagnosis. Conclusion: The results of our study reveal that in a selected Iranian population, the SNP G197T and C248T are completely absent and are not associated with male infertility and therefore these SNPs may not represent a molecular marker for genetic diagnosis of male infertility.
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