A complex satellite DNA polymorphism flanking the human ryanodine receptor gene (RYR1)

• Published in: Cytogenetic and genome research Vol. 72; no. 2-3; pp. 215 - 216
• Main Authors: WOLZ, W, WENDELMUTH, U, ROUQUIER, S, GIORGI, D, MÜLLER, C. R
• Format: Conference Proceeding Journal Article
• Language: English
• Published: Freiburg Karger 01.01.1996; Basel S. Karger AG; Paris
• Subjects: Base Sequence; Biological and medical sciences; Calcium Channels - genetics; Classical genetics, quantitative genetics, hybrids; DNA, Satellite - genetics; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Molecular Sequence Data; Muscle Proteins - genetics; Polymerase Chain Reaction; Polymorphism, Genetic; Ryanodine Receptor Calcium Release Channel; Genetic mapping; Chromosome F19; Human; Ryanodine; Alkaloid; Gene; Genetic marker; Minisatellite DNA; Physical map; Polymorphism; Biological receptor
• ISSN: 0301-0171; 1424-8581; 1424-859X
• DOI: 10.1159/000134193

We describe a new highly polymorphic DNA marker flanking the human ryanodine receptor gene (RYR1) at chromosome band 19q13.1. The marker is composed of a 25bp minisatellite sequence, a compound microsatellite (AC)(AT), and an oligo-T stretch. STS mapping of previously published markers from 19q13.1 helped to integrate the genetic and physical maps of this region. Together with D19S422, the new polymorphism forms a pair of markers closely flanking either side of the RYR1 gene which may be useful for linkage studies in families susceptible to malignant hyperthermia and central core disease.