Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

Sozen, MUSTAFA; Whittall, R; HUMPHRİES, STEVE

doi:10.1016/j.atherosclerosissup.2004.09.003

Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

Atıf İçin Kopyala

Sozen M. M., Whittall R., HUMPHRİES S. E.

ATHEROSCLEROSIS SUPPLEMENTS, cilt.5, sa.5, ss.7-11, 2004 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 5 Sayı: 5
Basım Tarihi: 2004
Doi Numarası: 10.1016/j.atherosclerosissup.2004.09.003
Dergi Adı: ATHEROSCLEROSIS SUPPLEMENTS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.7-11
İnönü Üniversitesi Adresli: Evet

Özet

Mutations in the low-density lipoprotein receptor (LDLR) gene give rise to familial hypercholesterolaemia (FH). In this study we have used a 96-well capillary machine (MegaBACE, Amersham) to develop a single strand conformation polymorphism (SSCP) and heteroduplex method for the detection of mutations in the LDLR gene. We have applied this technique to 101 different mutations including single nucleotide polymorphisms in different exons of the LDLR gene. Hundred percent of these nucleotide alterations were distinguished by this method. We suggest this fast, reliable and safe method for diagnosis of FH in large patient groups. (C) 2004 Elsevier Ireland Ltd. All rights reserved.