Nalazite se na CroRIS probnoj okolini. Ovdje evidentirani podaci neće biti pohranjeni u Informacijskom sustavu znanosti RH. Ako je ovo greška, CroRIS produkcijskoj okolini moguće je pristupi putem poveznice www.croris.hr
izvor podataka: crosbi

Expand long PCR for fragile X mutation detection (CROSBI ID 739895)

Prilog sa skupa u časopisu | izvorni znanstveni rad

Hećimović, Silva ; Barišić, Ingeborg ; Ligutić, Ivo ; Pavelić, Krešimir Expand long PCR for fragile X mutation detection // Medizinische Genetik. 1997. str. 155-x

Podaci o odgovornosti

Hećimović, Silva ; Barišić, Ingeborg ; Ligutić, Ivo ; Pavelić, Krešimir

engleski

Expand long PCR for fragile X mutation detection

Fragile X mutation detection by DNA analysis has enabled accurate diagnosis of the fragile X syndrome. The mutation, which involves the expansion of CGG repeats in the FMR1 gene, has been primarily detected by Southern blotting method. In this study we present a novel, efficient and reliable PCR protocol that is more convenient for routine diagnosis of the fragile X syndrome. This method is based on the use of Expand Long PCR System which enables the amplification of normal, premutated and full mutated alleles, and therefore provides a complete CGG repeat analysis of the FMR1 gene. Normal alleles were easily detected by ethidium bromide staining of the agarose gels, suggesting that this assay could be used as a screening test for a large number of referrals. The amplified premutations and full mutations were identified by hybridisation with a digoxigenin labelled 5´-(CGG)5-3´ probe, followed by chemiluminescent detection. In this study we propose a new strategy for molecular diagnosis of the fragile X sydnorme in which our Expand Long PCR protocol should be used as the first screening test for fragile X mutation detection.

Expand long PCR; fragile X syndrome

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o prilogu

155-x.

1997.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

Medizinische Genetik

0936-5931

Podaci o skupu

Nepoznat skup

ostalo

29.02.1904-29.02.2096

Povezanost rada

Kliničke medicinske znanosti

Indeksiranost