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Atsushi Takagi, M.D., Atsushi Imai, M.D., Teruhiko Tamaya, M.D. 

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Presentation on theme: "Atsushi Takagi, M.D., Atsushi Imai, M.D., Teruhiko Tamaya, M.D. "— Presentation transcript:

1 A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female 
Atsushi Takagi, M.D., Atsushi Imai, M.D., Teruhiko Tamaya, M.D.  Fertility and Sterility  Volume 72, Issue 1, Pages (July 1999) DOI: /S (99)

2 FIGURE 1 One-nucleotide deletion in SRY in a 45,X/47,XYY female. The pedigree is shown at the top, with XX females indicated by ○ and the patient by •. □ = 46,XY males; N = living progeny unspecified. The sequence extended from nucleotide position 417–425 is shown. As indicated by the arrow, the patient demonstrates a thymine (T) deletion at position 422, leading to a frame-shift mutation. This mutation changed the codon for Tyr (TAT) to a stop codon (TAG) within the open reading frame. The primers a and b were used to amplify a 306–base pair region. Fertility and Sterility  , DOI: ( /S (99) )

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