izpis_h1_title_alt

Development of a new DHPLC assay for genotyping UGT1A1(TA)n polymorphism associated with Gilbert's syndrome
Jurković Mlakar, Simona (Avtor), Ostanek, Barbara (Avtor)

URLURL - Predstavitvena datoteka, za dostop obiščite http://biochemia-medica.com/content/online-content Povezava se odpre v novem oknu

Izvleček
Gilbert's syndrome is the most common hereditary disorder of bilirubin metabolism. The causative mutation in Caucasians is almost exclusively a (TA) dinucleotide insertion in the UGT1A1 promoter. Affected individuals are homozygous for the variant promoter and have 7 TA repeats instead of 6. Promoters with 5 and 8 TA repeats also exist but are extremely rare in Caucasians. The aim of our study was to develop a high-performance liquid chromatography (DHPLC) assay for genotyping UGT1A1(TA)n polymorphism and to compare it with a previously described single-strand conformation polymorphism(SSCP) assay. Materials and methods: Fifty DNA samples with commongenotypes ((TA)6/6, (TA)6/7, (TA)7/7) as well as 7 samples with one of the following rare genotypes - (TA)5/6, (TA)5/7, (TA)6/8 or (TA)7/8 were amplified by polymerase chain reaction (PCR) and genotyped by DHPLC using sizing mode. All samples were previously genotyped by SSCP assay which was validated by sequencing analysis. Results: All samples with either common or rare genotypes showed completely concordant results between DHPLC and SSCP assays. Our results show that sizing DHPLC assay is more efficient compared to classical SSCP assay due to shorter time of genotyping analysis, ability of genotyping increased number of samples per day, higher robustness, reproducibility and cost-effectiveness with no loss of accuracy in detection of all UGT1A1(TA)n genotypes. Conclusions: We developed a new DHPLC assay which is suitable for accurate, automated, highthroughput, robust genotyping of all UGT1A1(TA)n polymorphism variants, compared to a labour intensive and time-consuming SSCP assay.

Jezik:Srbski jezik
Ključne besede:hiperbilirubinemija, Gilbertov sindrom, mikrosatelit, farmakogenomika, SSCP, UGT1A1
Vrsta gradiva:Delo ni kategorizirano (r6)
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:FFA - Fakulteta za farmacijo
Leto izida:2011
Št. strani:str. 167-173
Številčenje:Vol. 21, no. 2
UDK:577
ISSN pri članku:1330-0962
COBISS.SI-ID:3031153 Povezava se odpre v novem oknu
Število ogledov:435
Število prenosov:138
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
 
Skupna ocena:(0 glasov)
Vaša ocena:Ocenjevanje je dovoljeno samo prijavljenim uporabnikom.
:
Objavi na:AddThis
AddThis uporablja piškotke, za katere potrebujemo vaše privoljenje.
Uredi privoljenje...

Gradivo je del revije

Naslov:Biochemia medica
Skrajšan naslov:Biochem. med.
Založnik:Hrvatsko društvo medicinskih biokemičara
ISSN:1330-0962
COBISS.SI-ID:3502345 Povezava se odpre v novem oknu

Sekundarni jezik

Jezik:Angleški jezik
Naslov:Razvoj nove metode DHPLC za genotipizaciju polimorfizma UGT1A1(TA)n povezanog s Gilbertovim sindromom

Podobna dela

Podobna dela v RUL:
Podobna dela v drugih slovenskih zbirkah:

Komentarji

Dodaj komentar

Za komentiranje se morate prijaviti.

Komentarji (0)
0 - 0 / 0
 
Ni komentarjev!

Nazaj