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.
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Received: March 19, 1999 / Accepted: April 16, 1999
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Mine, N., Bando, K., Utada, Y. et al. Two single nucleotide polymorphisms of the hSNF5/INI1 gene. J Hum Genet 44, 354–355 (1999). https://doi.org/10.1007/s100380050177
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DOI: https://doi.org/10.1007/s100380050177
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