Abstract
The heterozygosity of CANP3, ACTN3, and GHR genes in specialized collections was studied using state-of-the-art DNA technologies for DNA analysis. A new dinucleotide deletion (AC) at the beginning of exon 21 was identified in five individuals with a heterozygous CANP3 gene. Analysis of polymorphism (1747 C → T) of the ACTN3 gene demonstrated a positive association of allele C with high muscular performance. Real-time PCR assay of SNP1630 (A → C) in the GHR gene suggested a putative negative association of allele C of this SNP with high muscular performance.
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REFERENCES
International Human Genome Sequencing Consortium, Nature, 2001, vol. 409, pp. 860–921.
Venter, C.J., Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., Sutton, G.G., Smith, H.O., Yandell, M., Evans, C.A., Holt, R.A., et al., Science, 2001, vol. 291, pp. 1304–1351.
Richard, I., Broux, O., Allamand, V., Fougerousse, F., Chiannilkulchai, N., Bourg, N., Brenguler, L., Devaud, C., Pasturaud, P., Roudaut, C., Hillaire, D., et al., Cell, 1995, vol. 81, pp. 27–40.
Krakhmaleva, I.N., Lipatova, N.A., Shishkin, S.S., Shakhovskaya, N.I., Rodnikova, N.I., Lunga, I.N., Tarksh, M.A., and Gerasimova, N.L., Genetika (Moscow), 1999, vol. 35, no.12, pp. 1713–1717.
Payne, J. and Montgomery, H., Biochem. Soc. Trans., 2003, vol. 31, pp. 1286–1289.
Yang, N., MacArthur, D.G., Gulbin, J.P., Hahn, A.G., Beggs, A.H., Easteal, S., and North, K., Am. J. Hum. Genet., 2003, vol. 73, pp. 627–631.
Shishkin, S.S., Shakhovskaya, N.I., Lunga, I.N., Krokhina, T.B., Krakhmaleva, I.N., Lipatova, N.A., Skozobtseva, L.F., Podobedova, V.I., Tarasov, S.B., et al., in Mnogolikost’ sovremennoi genetiki cheloveka (Many Sides of Modern Genetics of the Human), Shishkin, S.S., Ed., Moscow: Hilem, 2000, pp. 197–276.
Takada, D., Ezura, Y., Ono, S., Iino, Y., Katayama, Y., Xin, Y., Wu, L.L., Larringa-Shum, S., Stephenson, S.H., Hunt, S.C., et al., Am. J. Med. Genet., 2003, vol. 121A, pp. 136–140.
Shakhovskaya, N.I., Shishkin, S.S., Gerasimov, E.V., Khodunova, A.A., Skozobtseva, L.F., Artem’eva, S.B., Shakhovskii, V.A., Davydkin, V.V., Tarksh, M.A., Krakhmaleva, I.N., et al., in Materialy 1-go Ross. Nauch. Foruma MedKomTekh-2003 (Proc. 1st Russ. Scientific Forum Med-ComTech-2003), Moscow: Aviaizdat, 2003, p. 139.
Lindblom, B. and Holmlung, G., Gene Anal. Techn., 1988, vol. 5, pp. 97–101.
Krakhmaleva, I.N., Lipatova, N.A., Shishkin, S.S., and Shakhovskaya, N.I., Zh. Nevrol. Psikhiatr., 1999, vol. 99, no.3, pp. 41–43.
North, K.N., Yang, N., Wattanasirichaigoon, D., Mills, M., Easteal, S., and Beggs, A.H., Nat. Genet., 1999, vol. 21, pp. 353–354.
Zhou, M.-Y., Clark, S.E., and Gomez-Sanchez, C.E., BioTechniques, 1995, vol. 19, pp. 34–35.
Gorbunova, V.N. and Baranov, V.S., Vvedenie v molekulyarnuyu diagnostiku i genoterapiyu nasledstvennykh zabolevanii (Introduction into Molecular Diagnostics and Gene Therapy of Hereditary Diseases), St. Petersburg: Spetsial’naya literatura, 1997.
Mori, Y., Folco, E., and Koren, G., J. Biol. Chem., 1995, vol. 270, pp. 27788–27796.
Doris, P.A., Hypertension, 2002, vol. 39, no.2, part 2, pp. 323–331.
Dos, Santos C., Essioux, L., Teinturier, C., Tauber, M., Goffin, V., and Bougneres, P., Nat. Genet., 2004, vol. 36, pp. 720–724.
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Translated from Prikladnaya Biokhimiya i Mikrobiologiya, Vol. 41, No. 3, 2005, pp. 303–307.
Original Russian Text Copyright © 2005 by Krakhmaleva, Shishkin, Shakhovskaya, Stolyarova, Plugov, Knyazev, Khomenkov, Shevelev, Chernov.
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Krakhmaleva, I.N., Shishkin, S.S., Shakhovskaya, N.I. et al. SNP-detecting DNA technologies: Solving problems of applied biochemistry. Appl Biochem Microbiol 41, 264–268 (2005). https://doi.org/10.1007/s10438-005-0045-1
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DOI: https://doi.org/10.1007/s10438-005-0045-1