Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0012872 (DNA marker)
 929 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Spinocerebellar ataxia 1 (SCA1) is the locus symbol of hereditary olivopontocerebellar atrophy, and it is mapped on the short arm of chromosome 6. D6S89 is the polymorphic DNA marker linked tightly to SCA1. In order to examine whether SCA1 and Machado-Joseph disease (MJD) loci are different from each other, we performed linkage study for D6S89 to MJD locus. A total of 20 pedigrees of MJD were analysed. Number of individuals consists of 211 members. Among them, 74 were affected. Consequently, 14 pedigrees showed negative lod score, and 6 showed weak positive lod scores at most of recombination fractions. As a whole, linkage between MJD locus and D6S89 was excluded at recombination fraction of 0.15. Our results further support the concept that MJD is not an allelic disorder but distinct genetic entity from SCA1.
 ...
PMID:[Linkage study of Machado-Joseph disease: genetic evidence for the locus different from SCA1]. 162 31

Machado Joseph Disease (MJD) is a progressive spinocerebellar atrophy (SCA) with an autosomal dominant mode of inheritance. On the basis of some similarities in the clinical features and in the abnormal profiles of brain proteins, it has been suggested that MJD might be an allele of the Huntington Disease (HD) locus. Using the DNA probe (pK082), we analyzed the linkage between the DNA marker locus D4S10 and the MJD locus in two large kindreds. The data exclude linkage between these two loci at a distance of 10 cm (Z = - 2.02). Since the D4S10 locus is linked to the HD locus at a distance of approximately 4 cm, we conclude that MJD is not an allele of the HD locus.
 ...
PMID:DNA marker studies show that Machado Joseph disease is not an allele of the Huntington disease locus. 252 13

Two patients and one three generation family with interstitial deletions of distal chromosome band 14q31 are described. The deletions were initially identified by chromosome analysis; we have used highly informative simple sequence repeat polymorphisms to define the deletions at the molecular level. This analysis also establishes the parental origin of the deleted chromosome. One of the patients was initially described as having a terminal deletion of chromosome 14 from 14q31 to 14qter; we show here that this child has instead an interstitial deletion of band 14q31. The smallest deletion involves a single anonymous DNA marker and is associated with an almost normal phenotype. The two patients with larger deletions have phenotypes similar to those seen in previously described cases of interstitial deletions of chromosome 14, including minor dysmorphic features and developmental delay. Delineation of these deletions allows the ordering of markers within the 14q31 region, in which the gene for the degenerative neurological disorder Machado-Joseph disease is localised.
 ...
PMID:Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. 756 74