Two single nucleotide polymorphisms of the hSNF5/INI1 gene |
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| Authors: | Nobuya Mine Kouichi Bando Yoshihito Utada Hisaki Nagai Tsutomu Araki M. Emi |
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| Affiliation: | (1) Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, 1-396 Kosugi-cho, Nakahara-ku, Kawasaki 211-8533, Japan Tel. +81-44-733-5230; Fax +81-44-733-5192 e-mail: memi@nms.ac.jp, JP;(2) Department of Obstetrics and Gynecology, Nippon Medical School, Tokyo, Japan, JP |
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| Abstract: | We found two single nucleotide polymorphisms at the hSNF5/INI1 gene located on 22q11.2, encoding a member of the chromatin-remodelling SWI/SNF multiprotein complexes. A guanine/adenine polymorphism at codon 299 in exon 7, and another guanine/adenine polymorphism at 39 bp upstream of exon 9 were identified. As the gene was recently identified as a tumor suppressor gene for malignant rhabdoid tumor, this polymorphism may be useful for the genetic study of susceptibility for human malignancies of various tissue origins. Received: March 19, 1999 / Accepted: April 16, 1999 |
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| Keywords: | hSNF5/INI1 gene Single nucleotide polymorphism Malignant rhabdoid tumor Chromosome 22q11.2 Tumor suppressor gene |
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