Objective: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA seq uence polymorphisms in patients with unexplained infertility...Objective: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA seq uence polymorphisms in patients with unexplained infertility and multiple failed IVF cycles. Design: Institutional review board-approved observational case-co ntrol study. Setting: Infertility center and university hospital. Patient(s): Si xty-two fertile controls and seven subjects with unexplained infertility. Inter vention(s): BLASTP (www.ncbi.nlm.nih.gov) was used to map the genomic DNA and co mplementary DNA sequence of FMN2. Genomic DNA was extracted from blood leukocyte samples. The polymerase chain reaction was used to amplify FMN2 gene exons for analysis by denaturing gradient gel electrophoresi s. Main Outcome Measure(s): Characterization of the FMN2 gene and identification of fragment melting polymorphisms (FMPs). Result(s): FMN2 includes 411,960 base pairs (bp) of DNA with 6,204 bp in 18 exons. There was no difference in FMN2 FM P allele frequencies between the controls and subjects. One patient was homozygo us for one FMP. Conclusion(s): The human FMN2 gene is conserved between evolutio narily diverse vertebrates. It is likely that FMN2 has the same function as Fmn2 in the mouse (i.e., maintenance of the meiotic spindle). Prospective identifica tion of patients with meiosis I arrest is necessary to determine whether FMN2 mu tations are a cause of unexplained infertility.展开更多
文摘Objective: Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA seq uence polymorphisms in patients with unexplained infertility and multiple failed IVF cycles. Design: Institutional review board-approved observational case-co ntrol study. Setting: Infertility center and university hospital. Patient(s): Si xty-two fertile controls and seven subjects with unexplained infertility. Inter vention(s): BLASTP (www.ncbi.nlm.nih.gov) was used to map the genomic DNA and co mplementary DNA sequence of FMN2. Genomic DNA was extracted from blood leukocyte samples. The polymerase chain reaction was used to amplify FMN2 gene exons for analysis by denaturing gradient gel electrophoresi s. Main Outcome Measure(s): Characterization of the FMN2 gene and identification of fragment melting polymorphisms (FMPs). Result(s): FMN2 includes 411,960 base pairs (bp) of DNA with 6,204 bp in 18 exons. There was no difference in FMN2 FM P allele frequencies between the controls and subjects. One patient was homozygo us for one FMP. Conclusion(s): The human FMN2 gene is conserved between evolutio narily diverse vertebrates. It is likely that FMN2 has the same function as Fmn2 in the mouse (i.e., maintenance of the meiotic spindle). Prospective identifica tion of patients with meiosis I arrest is necessary to determine whether FMN2 mu tations are a cause of unexplained infertility.
