Novel mplex PCR-RFLP method for detect of MTHFR 677C>T,482G>A Variant - Tapa blanda

Dubey, Widhi; Jain, Kapil

 
9783659376429: Novel mplex PCR-RFLP method for detect of MTHFR 677C>T,482G>A Variant
Tapa blanda
ISBN 10: 3659376426 ISBN 13: 9783659376429
Editorial: LAP LAMBERT Academic Publishing, 2013

Sinopsis

Methylene Tetra Hydro Folate Reductase (MTHFR) is an enzyme that in humans is encoded by the MTHFR gene. MTHFR catalyzes the conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular diseases, neural tube defects, colon cancer and acute leukemia, and mutations. This gene is associated with Methylenetetrahydrofolate reductase deficiency. Two kind of functional polymorphism, 677 C > T and 482 G > T have shown effect to severe disease in Human including cancers. Because of this enzyme deficiency cause many problems, till now 40 types of fatal disorders have been found in Human species. Main aim to do this project is to develop the new and novel method of detection of MTHFR gene related mutations at early stage. For this, 25 peripheral blood samples were randomly collected among the Indian population and DNA was isolated and the genotype polymorphism was determined by Multiplex-PCR RFLP method.

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Reseña del editor

Methylene Tetra Hydro Folate Reductase (MTHFR) is an enzyme that in humans is encoded by the MTHFR gene. MTHFR catalyzes the conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular diseases, neural tube defects, colon cancer and acute leukemia, and mutations. This gene is associated with Methylenetetrahydrofolate reductase deficiency. Two kind of functional polymorphism, 677 C > T and 482 G > T have shown effect to severe disease in Human including cancers. Because of this enzyme deficiency cause many problems, till now 40 types of fatal disorders have been found in Human species. Main aim to do this project is to develop the new and novel method of detection of MTHFR gene related mutations at early stage. For this, 25 peripheral blood samples were randomly collected among the Indian population and DNA was isolated and the genotype polymorphism was determined by Multiplex-PCR RFLP method.

Biografía del autor

Prof(Dr)Widhi Dubey-Acad.Dir.@Mahatma Gandhi Inst.of Applied Sc.(JECRC-Found.)Jaipur, NAAC accredited “A” grade,Engaged in both PG & UG classes in Botany & Biotech.Published >16 research papers in Nat'l & Int'l Journals of repute.Author of books.Actively engaged in Research.Kapil Jain Co-author is meritorious career oriented PG-Biotech studentMGIaS

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Editorial
LAP LAMBERT Academic Publishing
Año de publicación
2013
Idioma
Inglés
ISBN 10 
3659376426
ISBN 13 
9783659376429
Encuadernación
Tapa blanda
Número de páginas
96
Contacto del fabricante
no disponible
Persona responsable
no disponible