Status on the genome screening for the genes involved in malignant hyperthermia susceptibility (MHS)
- Johns Hopkins Medical Institute, Baltimore, MD (United States)
MHS is an autosomal dominant metabolic disorder of skeletal muscle. Recent linkage studies suggest a genetic locus for this disorder on 19q13.1 and the ryanodine receptor (RYR1) as a gene candidate. We and others have previously demonstrated that as many as 75% of MHS families are unlinked to markers surrounding this locus on 19q13.1. We are utilizing a linkage/mapping strategy to identify the genetic location of one or more genes leading to MHS in these families. In an effort to screen the genome, we used set 4a containing short tandem repeat polymorphisms (STRPS) developed at the Cooperative Human Linkage Center. Set 4a spans the genome with markers at approximately 28 cM intervals which have a heterozygosity of 80%, on average. This screening set includes 49% dinucleotide STRPS, 4% trinucleotide STRPS and 47% tetranucleotide STRPS. A total of 92 individuals were genotyped with 147 markers. From 4 to 6 markers were typed simutaneously, using multiplex-PCR. Genotypes were entered directly into a computer while scoring the autoradiographs manually. The computer files generated were in the correct format for use in the LINKAGE software package. Our extensive exclusion map covers 77% of the genome. Additional results will be presented as well as the preliminary localization of MHS genes, as they are observed in our families.
- OSTI ID:
- 134710
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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