Detail A Candidate Locus Approach Identifies a Long QT Syndrome Gene Mutation Bibliografi Author: Shooner, Kerry (Co-Author); Benson, D. Woodrow (Co-Author); Beery, Theresa A. ; Knilans, Timothy K. (Co-Author); Dyment, Macaira (Co-Author) Topik: LQTS; genetics; candidate locus; ion channels; arrhythmias; mutation Bahasa: (EN )     Penerbit: SAGE Publications     Tempat Terbit: London    Tahun Terbit: 2003     Jenis: Article - untuk jurnal ilmiah Fulltext: 97BRN52.pdf (53.0KB; 1 download) Abstract Long QT syndrome is an inherited disorder that results in lengthened cardiac repolarization. It can lead to sudden onset of torsades de pointes, ventricular fibrillation, and death. The authors obtained a family history, performed electrocardiograms, and drew blood for DNAe xtraction and genotyping from 15 family members representing 4 generations of an affected family. Seven individuals demonstrated prolonged QT intervals. The authors used polymorphic short tandem repeat markers at known LQTS loci, which indicated linkage to chromosome 11p15.5 where the potassium channel, KCNQ1, is encoded. Polymerase chain reaction was used to amplify the coding region of KCNQ1. During survey of the KCNQ1 coding region, a G-to-Atr ansition (G502A) was identified. DNAfr om all clinically affected but from none of the clinically unaffected family members carried the G-to-Atr ansition. The candidate locus approach allowed an efficient mechanism to uncover the potassium channel mutation causing LQTS in this family. Opini Anda Klik untuk menuliskan opini Anda tentang koleksi ini! Lihat Sejarah Pengadaan  Konversi Metadata   Kembali

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