Identification of the C → T Polymorphism in the +93 Position of the apo(a) Gene by Mismatch PCR-Mediated Site-Directed Mutagenesis and Restriction Enzyme Digestion

Volkova, Maria; Vasina, Valentina; Obraztsova, G. I.; Schwartz, E.I.

doi:10.1006/bmme.1996.0071

Cited by 4 publications

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“…The imprinting status of Mit1 / Lb9 was determined using a single base polymorphism between mouse strains, C57BL/6J and KJR/Msf. Since the polymorphism did not provide any available RFLP site, mismatch PCR‐mediated site‐directed mutagenesis [18] was used for the discrimination of the expressed alleles (see Section 2 and Fig. 4A).…”

Section: Resultsmentioning

confidence: 99%

Mit1/Lb9andCopg2, new members of mouse imprinted genes closely linked toPeg1/Mest

et al. 2000

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Two mouse genes, Mit1/Lb9 and Copg2, linked to Peg1/Mest on mouse chromosome 6, were identified to be imprinted maternally and paternally, respectively. Mit1/Lb9 encoding untranslated transcripts resides within the intron 20 of Copg2. The gene is maternally imprinted in adult mouse brain, partially imprinted in other tissues. Copg2 consists of 24 exons within the s 40 kb genomic region, being expressed ubiquitously in mouse tissues with a partial imprinting pattern in embryos, neonates, and adult brain in contrast to maternally imprinted human COPG2. In addition, we identified an antisense transcript of Copg2, Copg2AS, which overlaps 3P P-UTRs of Copg2 and Peg1/Mest. The Copg2AS transcript is maternally imprinted in embryos, neonates, and adult tissues.z 2000 Federation of European Biochemical Societies.

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Section: Resultsmentioning

confidence: 99%

Mit1/Lb9andCopg2, new members of mouse imprinted genes closely linked toPeg1/Mest

et al. 2000

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“…Под руководством Е. И. Шварца впервые в стране созданы карты мутационных повреждений ряда моногенных Профессор Е. И. Шварц (1940-2003 [13], впервые описана роль гипергомоцистеинемии в основе развития варикозного расширения вен [9], дана оценка роли гена Apo(a) в молекулярной генетике инфаркта миокарда [14], выявлен кооперативный эффект генов субъединицы IIIa рецептора тромбоцитов и серотонинового транспортера в формировании наследственной предрасположенности к развитию инфаркта миокарда у мужчин молодого возраста [15], показан вклад аллельного варианта гена параоксоназы-1 в формирование наследственной предрасположенности к болезни Паркинсона [16].…”

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E. I. Shwartz: At the Origins of Molecular Medicine

Пчелина¹

2020

The Scientific Notes of the Pavlov university

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Исторический материал / Historical materials УЧЕНЫЕ ЗАПИСКИ СПбГМУ им. акад. И. П. ПАВЛОВА The Scientific Notes of Pavlov University journal homepage: www.scinotes.ru 16 марта 2020 г. исполняется 80 лет со дня рождения доктора медицинских наук, профессора Евгения Иосифовича Шварца-человека, кто стоял у истоков формирования молекулярной медицины в России. Будучи медиком по образованию и работая в научных коллективах, всю свою жизнь Евгений Иосифович занимался непосредственно тем, что сейчас принято называть трансляционной медициной, а именно-внедрял новые научные разработки в клиническую практику. С его участием в стране была поставлена первая полимеразная цепная реакция (ПЦР) для диагностики наследственной

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“…Уже через год после создания комплекса начато сотрудничество с руководимой Юрием Романовичем Ковалевым кафедрой факультетской терапии Педиатрической академии по изучению наследственной предрасположенности к ишемической болезни серзда (ИБС) и артериальной гипертензии [9,20,22,25,31]. С 1992 г. к этим исследованиям подключилась кафедра педиатрии № 3 Игоря Михайловича Воронцова.…”

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In memoriam of Evgeny Iosifovich Schwartz

Gorbunova

2020

Pediatr (SPb)

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E.I. Schwartz stood at the foundation of Russian molecular genetics: he was the first to apply the novel method of polymerase chain reaction (PCR) in this country. E.I. Schwartz graduated from the LPMI at 1967. His area of research belonged at first to the realm of the metabolic manifestations of hereditary diseases. Since 1985, he began working at the Laboratory of Molecular Genetics, Leningrad Institute of Nuclear Physics (LINP). Shortly thereafter, E.I.Schwartz began to reproduce and implement the PCR, recently proposed by K. Mullis. Coincidentally, the seemingly purely fundamental studies of thermostable polymerase, which turned out to be the key PCR enzyme, had been independently conducted in LINP and contributed to the success of E.I. Schwartz undertaking. He also initiated the development of the first Russian thermocyclers. He implemented PCR in fruitful long-term research projects on the molecular epidemiology of monogenic diseases: phenylketonuria, familial hypercholesterolemia, hereditary disorders of hemostasis, etc. E.I. Schwartz optimized the methods of isolating nucleic acids from dried blood spots and other sources, suboptimal for a laboratory specialist, but ideal for screening and forensic practice. Another field of hisresearch was to elucidate the role of polymorphic alleles in multifactorial diseases. E.I. Schwartz enthusiastically propagated the new molecular approaches among clinicians and laboratory geneticists: he established close and fruitful collaborations between specialists of the vastly divergent backgrounds. In 1989 E.I. Schwartz founded the Department of Medical Genetics of LPMI, which was one of the first such departments in U.S.S.R. In 2001, he founded the Department of Molecular Genetic Technologies in I.P. Pavlov`s St.Petersburg State Medical University. In 2003, E.I. Schwartz has passed away, leaving behind him the good memory of numerous students and successors of his work

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Identification of the C → T Polymorphism in the +93 Position of the apo(a) Gene by Mismatch PCR-Mediated Site-Directed Mutagenesis and Restriction Enzyme Digestion

Cited by 4 publications

References 0 publications

Mit1/Lb9andCopg2, new members of mouse imprinted genes closely linked toPeg1/Mest

Mit1/Lb9andCopg2, new members of mouse imprinted genes closely linked toPeg1/Mest

E. I. Shwartz: At the Origins of Molecular Medicine

In memoriam of Evgeny Iosifovich Schwartz

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