Characterization and mutation analysis of the human FORMIN-2 (FMN2) gene in women with unexplained infertility
作者： D RYLEY , H WU , B LEADER , A ZIMON , R REINDOLLAR
DOI: 10.1016/J.FERTNSTERT.2004.10.051
关键词:
摘要: Objective Formin-2 ( Fmn2 ) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 FMN2 gene and identify DNA sequence polymorphisms in patients unexplained infertility multiple failed IVF cycles. Design Institutional review board–approved observational case–control study. Setting Infertility center university hospital. Patient(s) Sixty-two fertile controls seven subjects infertility. Intervention(s) BLASTP (www.ncbi.nlm.nih.gov) used map genomic complementary of . Genomic extracted from blood leukocyte samples. The polymerase chain reaction amplify exons for analysis by denaturing gradient gel electrophoresis. Main Outcome Measure(s) Characterization identification fragment melting (FMPs). Result(s) includes 411,960 base pairs (bp) 6,204 bp 18 exons. There no difference FMP allele frequencies between subjects. One patient homozygous one FMP. Conclusion(s) is conserved evolutionarily diverse vertebrates. It likely that has same function as mouse (i.e., maintenance meiotic spindle). Prospective arrest necessary determine whether mutations are a cause
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