Search for Bloom syndrome gene (BLM) mutations in prostate cancer patients
https://doi.org/10.1234/XXXX-XXXX-2016-5-7-9
Abstract
Background: BLM gene belongs to the RecQ helicase family and has been implicated in the maintenance of genomic stability. Homozygous and compound heterozygous BLM gene mutations cause Bloom syndrome, an inherited recessive clinical syndrome, which is characterized by chromosomal instability and a predisposition to cancer. The aim: To reveal BLM gene mutations in prostate cancer patients. Methods: We analyzed 124 DNA samples of prostate cancer patients from the Republic of Bashkortostan and used the following methods: the DNA isolation from peripheral blood by phenol-chloroform extraction; polymerase chain reaction (PCR); high resolution melting (HRM) analysis; direct sequencing. The functional significance of the mutations was analyzed using the following programs: SIFT, PolyPhen-2, Mutation Assessor, Mutation Taster, CADD. Results: We revealed 4 missence mutations (c.C1237A (p.L413I), c.A1490C (p.Q497R), c.C2603T (p.P868L), c.G3961A (p.V1321I) and several synonymous variants (с.G3102A (p.T1034T), c.C3531A (p.A1177A)) in the BLM gene.
About the Authors
G. B. Kunsbaeva
Bashkir State University; Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences
Russian Federation
Russian Federation
I. R. Gilyazova
Bashkir State University; Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences
Russian Federation
Russian Federation
M. A. Yankina
Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences
Russian Federation
Russian Federation
E. A. Klimentova
Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences
Russian Federation
Russian Federation
V. N. Pavlov
Bashkir State Medical University
Russian Federation
Russian Federation
E. K. Khusnutdinova
Bashkir State University; Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences
Russian Federation
Russian Federation
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Review
For citations:
Kunsbaeva G.B., Gilyazova I.R., Yankina M.A., Klimentova E.A., Pavlov V.N., Khusnutdinova E.K. Search for Bloom syndrome gene (BLM) mutations in prostate cancer patients. Medical Genetics. 2016;15(5):7-9. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-5-7-9
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