鞭毛機能に必須なTEKTIN-t/TEKT2遺伝子の日本人男性における遺伝子多型の解析

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  • Discovery of a TEKTIN-t/TEKT2 Gene Variant Encoding Sperm Flagellar Protein in Japanese Males

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TEKTIN proteins contribute to the formation of cilia and flagella together with dynein. At least six types of TEKTIN genes have been reported in humans. The disruption of Tektin-t/Tekt2, Tekt3, or Tekt4 in mice causes sperm flagellar dysfunction, and Tektin-t/Tekt2 null male mice are infertile. To investigate the possible association between variations in TEKTIN-t/TEKT2 and impaired spermatogenesis in Japanese males, we screened for mutations in TEKTIN-t/TEKT2 using DNA from 282 sterile male patients and 89 proven-fertile male volunteers. Six polymorphisms were found in the open reading frame of TEKTIN-t/TEKT2, but no significant differences in genotype frequency were identified in the infertile subjects(P>0.05). We also did not detect a previously reported TEKTIN-t/TEKT2 gene variant in our subjects. These data may be applied to future large-scale genetic analyses of the association between genetic background and male infertility.

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