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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.

Authors :
Nishimura-Tadaki, Akira
Wada, Takahito
Bano, Gul
Gough, Karen
Warner, Janet
Kosho, Tomoki
Ando, Noriko
Hamanoue, Haruka
Sakakibara, Hideya
Nishimura, Gen
Tsurusaki, Yoshinori
Doi, Hiroshi
Miyake, Noriko
Wakui, Keiko
Saitsu, Hirotomo
Fukushima, Yoshimitsu
Hirahara, Fumiki
Matsumoto, Naomichi
Source :
Journal of Human Genetics. Feb2011, Vol. 56 Issue 2, p156-160. 5p. 1 Black and White Photograph, 2 Diagrams, 1 Chart.
Publication Year :
2011

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
14345161
Volume :
56
Issue :
2
Database :
Academic Search Index
Journal :
Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
58638173
Full Text :
https://doi.org/10.1038/jhg.2010.155