Naslov
Single strand conformation polymorphism analysis and its use in mutation detection in FH

Autori
Stavljenić-Rukavina, Ana ; Sertić, Jadranka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the First European-American Intensive Course in PCR Based Clinical and Forensic Testing / Burgi, Dean S. - Split : Laboratory for Clinical and Forensic Genetics : Split Clinical Hospital, 1997, 203-204

Skup
First European-American Intensive Course in PCR Based Clinical and Forensic Testing

Mjesto i datum
Split, Hrvatska, 23.09.1997. - 03.10.1997

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
single strand conformation polymorphism analysis; PCR

Sažetak
Mutations in the low-density lipoprotein receptor (LDLR) gene cause the autosomal dominant inherited disorder familial hypercholesterolemia. More than 200 mutations in the LDLR gene have been characterized at the molecular level. The majority of mutations are point mutations and minor deletions and insertions. PCR-SSCP is one of the several methods that can be used to screen DNA fragments for small sequence changes. This technique involves denaturing double-stranded DNA into single stranded DNA, followed by electrophoresis on non-denaturing polyacrylamide gel. Sequence differences may alter the secondary structure, resulting in detectable mobility shift during gel electrophoresis. Here we described the PCR-SSCP protocol for the analysis of exon 4b of the LDLR gene.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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