Molecular cloning of the chromosomal breakpoint in the LIS1 gene of a patient with isolated lissencephaly and balanced t(8;17)

Hiroki Kurahashi, Michiko Sakamoto, Jiro Ono, Atsuko Honda, Shintaro Okada, Yusuke Nakamura

研究成果: Article

13 引用 (Scopus)

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Karyotypic analysis of a patient exhibiting a phenotype of isolated lissencephaly, and of her parents, revealed a de novo balanced translocation, t(8;17)(p11.2; p13.3). Since the lissencephaly (LIS1) gene was known to be located on 17p13,3, we investigated whether the translocation might involve this gene. We performed Southern analysis using cosmid clones that contained genomic sequences corresponding to LIS1, and found that the breakpoint was located within intron 1. As sequence analy sis of the parental chromosomes in the vicinity of the breakpoint identified no additional putative transcripts, haploinsufficiency of the LIS1 gene is likely to be solely responsible for the patient's lissencephaly. Characterization of both breakpoints indicated a possible involvement of repetitive sequences in the recombigenic process that led to the translocation.

元の言語English
ページ(範囲)189-192
ページ数4
ジャーナルHuman Genetics
103
発行部数2
DOI
出版物ステータスPublished - 09-10-1998
外部発表Yes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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