Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024591 (
malignant hyperthermia
)
2,353
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
In pigs, the gene for glucosephosphate isomerase (GPI) is linked to the halothane (HAL) gene which is responsible for
malignant hyperthermia
(MH). A single copy DNA probe, designated GPI8R, has been isolated from a pig genomic library using a porcine GPI cDNA probe. This probe detects, as was the case for the cDNA probe, a five allele polymorphism in SacI and PvuII digested pig DNA. Family studies show that this polymorphism is linked to the HAL locus and hence can be used in carrier detection. In situ hybridization with GPI8R assigned the GPI locus to bands
p12
-q22 of chromosome 6. We conclude that the HAL linkage group resides on chromosome 6.
...
PMID:Porcine malignant hyperthermia carrier detection and chromosomal assignment using a linked probe. 320 16