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Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Nishimura-Tadaki A,Wada T,Bano G,Gough K,Warner J,Kosho T,Ando N,Hamanoue H,Sakakibara H,Nishimura G,Tsurusaki Y,Doi H,Miyake N,Wakui K,Saitsu H,Fukushima Y,Hirahara F,Matsumoto N

doi

10.1038/jhg.2010.155

subject

Has Abstract

pub_date

2011-02-01 00:00:00

pages

156-60

issue

2

eissn

1434-5161

issn

1435-232X

pii

jhg2010155

journal_volume

56

pub_type

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