Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
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DOI：
10.1038/jhg.2010.155
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发表时间：
2011-02
影响因子：
3.5
通讯作者：
Akira Nishimura‐Tadaki;T. Wada;G. Bano;K. Gough;J. Warner;T. Kosho;N. Ando;H. Hamanoue;H. Sakakibara;G. Nishimura;Y. Tsurusaki;H. Doi;N. Miyake;K. Wakui;H. Saitsu;Y. Fukushima;F. Hirahara;N. Matsumoto
中科院分区：
文献类型：
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作者：
Akira Nishimura‐Tadaki;T. Wada;G. Bano;K. Gough;J. Warner;T. Kosho;N. Ando;H. Hamanoue;H. Sakakibara;G. Nishimura;Y. Tsurusaki;H. Doi;N. Miyake;K. Wakui;H. Saitsu;Y. Fukushima;F. Hirahara;N. Matsumoto
Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t (X; autosome) were genetically analyzed. All the translocation breakpoints were determined at the nucleotide level. Interestingly, COL4A6 at Xq22. 3 encoding collagen type IV alpha 6 was disrupted by the translocation in one case, but in the remaining three cases, breakpoints did not involve any X-linked genes. According to the breakpoint sequences, two translocations had microhomology of a few nucleotides and the other two showed insertion of 3–8 nucleotides with unknown origin, suggesting that non-homologous end-joining is related to the formation of all the translocations.
