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New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk. / Komarova, T.Y.; Golovina, A.S.; Grudinina, N.A.; Zakharova, F.M.; Korneva, V.A.; Lipovetsky, B.M.; Serebrenitskaya, M.P.; Konstantinov, V.O.; Vasilyev, V.B.; Mandelshtam, M.Y.

In: Russian Journal of Genetics, No. 6, 2013, p. 673-676.

Research output: Contribution to journal › Article

Harvard

Komarova, TY, Golovina, AS, Grudinina, NA, Zakharova, FM, Korneva, VA, Lipovetsky, BM, Serebrenitskaya, MP, Konstantinov, VO, Vasilyev, VB & Mandelshtam, MY 2013, 'New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk', Russian Journal of Genetics, no. 6, pp. 673-676. https://doi.org/10.1134/S1022795413040066

APA

Komarova, T. Y., Golovina, A. S., Grudinina, N. A., Zakharova, F. M., Korneva, V. A., Lipovetsky, B. M., Serebrenitskaya, M. P., Konstantinov, V. O., Vasilyev, V. B., & Mandelshtam, M. Y. (2013). New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk. Russian Journal of Genetics, (6), 673-676. https://doi.org/10.1134/S1022795413040066

Vancouver

Komarova TY, Golovina AS, Grudinina NA, Zakharova FM, Korneva VA, Lipovetsky BM et al. New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk. Russian Journal of Genetics. 2013;(6):673-676. https://doi.org/10.1134/S1022795413040066

Author

Komarova, T.Y. ; Golovina, A.S. ; Grudinina, N.A. ; Zakharova, F.M. ; Korneva, V.A. ; Lipovetsky, B.M. ; Serebrenitskaya, M.P. ; Konstantinov, V.O. ; Vasilyev, V.B. ; Mandelshtam, M.Y. / New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk. In: Russian Journal of Genetics. 2013 ; No. 6. pp. 673-676.

BibTeX

@article{1282dcf9e6304803b43e8d6f295da004,
title = "New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk",
abstract = "Using an automated fluorescent single-strand conformation polymorphism (SSCP) analysis of the entire coding region, promoter zone, and exon-intron junctions of the low-density lipoprotein (LDL) receptor gene, we examined 80 DNA samples of patients with familial hypercholesterolemia (FH) from Petrozavodsk. We revealed mutations that might cause FH in five probands, including FH-North Karelia (c.925-931del7) mutation and four previously unknown mutations. These novel mutations included a transversion c.618T>G (p.S206R), one nucleotide insertion c.195_196insT (p.FsV66:D129X), a complex gene rearrangement c.192del10/ins8 (p.FsS65:D129X), and a single nucleotide deletion c.2191delG (p.FsV731:V736X). Three out of four novel mutations produce an open reading frame shift and the premature termination of translation. An analysis of the cDNA sequence of the LDL receptor showed that this might result in the formation of a transmembrane-domain-deficient receptor that is unable to bind and internalize the ligand. Our resu",
author = "T.Y. Komarova and A.S. Golovina and N.A. Grudinina and F.M. Zakharova and V.A. Korneva and B.M. Lipovetsky and M.P. Serebrenitskaya and V.O. Konstantinov and V.B. Vasilyev and M.Y. Mandelshtam",
year = "2013",
doi = "10.1134/S1022795413040066",
language = "English",
pages = "673--676",
journal = "Russian Journal of Genetics",
issn = "1022-7954",
publisher = "МАИК {"}Наука/Интерпериодика{"}",
number = "6",

}

RIS

TY - JOUR

T1 - New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk

AU - Komarova, T.Y.

AU - Golovina, A.S.

AU - Grudinina, N.A.

AU - Zakharova, F.M.

AU - Korneva, V.A.

AU - Lipovetsky, B.M.

AU - Serebrenitskaya, M.P.

AU - Konstantinov, V.O.

AU - Vasilyev, V.B.

AU - Mandelshtam, M.Y.

PY - 2013

Y1 - 2013

N2 - Using an automated fluorescent single-strand conformation polymorphism (SSCP) analysis of the entire coding region, promoter zone, and exon-intron junctions of the low-density lipoprotein (LDL) receptor gene, we examined 80 DNA samples of patients with familial hypercholesterolemia (FH) from Petrozavodsk. We revealed mutations that might cause FH in five probands, including FH-North Karelia (c.925-931del7) mutation and four previously unknown mutations. These novel mutations included a transversion c.618T>G (p.S206R), one nucleotide insertion c.195_196insT (p.FsV66:D129X), a complex gene rearrangement c.192del10/ins8 (p.FsS65:D129X), and a single nucleotide deletion c.2191delG (p.FsV731:V736X). Three out of four novel mutations produce an open reading frame shift and the premature termination of translation. An analysis of the cDNA sequence of the LDL receptor showed that this might result in the formation of a transmembrane-domain-deficient receptor that is unable to bind and internalize the ligand. Our resu

AB - Using an automated fluorescent single-strand conformation polymorphism (SSCP) analysis of the entire coding region, promoter zone, and exon-intron junctions of the low-density lipoprotein (LDL) receptor gene, we examined 80 DNA samples of patients with familial hypercholesterolemia (FH) from Petrozavodsk. We revealed mutations that might cause FH in five probands, including FH-North Karelia (c.925-931del7) mutation and four previously unknown mutations. These novel mutations included a transversion c.618T>G (p.S206R), one nucleotide insertion c.195_196insT (p.FsV66:D129X), a complex gene rearrangement c.192del10/ins8 (p.FsS65:D129X), and a single nucleotide deletion c.2191delG (p.FsV731:V736X). Three out of four novel mutations produce an open reading frame shift and the premature termination of translation. An analysis of the cDNA sequence of the LDL receptor showed that this might result in the formation of a transmembrane-domain-deficient receptor that is unable to bind and internalize the ligand. Our resu

U2 - 10.1134/S1022795413040066

DO - 10.1134/S1022795413040066

M3 - Article

SP - 673

EP - 676

JO - Russian Journal of Genetics

JF - Russian Journal of Genetics

SN - 1022-7954

IS - 6

ER -

ID: 7519545