Gene/Protein Disease Symptom Drug Enzyme Compound
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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.
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PMID:[Linkage study of Machado-Joseph disease: genetic evidence for the locus different from SCA1]. 162 31

Linkage analysis was carried out on 20 unselected UK families segregating for adenomatous polyposis coli (APC) using four closely linked DNA probes. Significant lod scores were obtained between APC and three markers: pi 227 (D5S37) theta = 0.16; C11p11 (D5S71) theta = 0.10; and YN5.48 (D5S81) theta = 0.00. The fourth, ECB27 (D5S98), gave low lod scores. The APC gene showed linkage with at least one of the probes used in all families, which is in agreement with previous publications. Combined lod scores are now sufficiently high to allow the use of these probes in presymptomatic diagnosis. Despite the fact that 61% of persons at risk were informative for at least one DNA marker, only 15% were informative with flanking probes. One prenatal diagnosis was performed where the initial request had been for sterilisation.
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PMID:Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families. 132 59

Huntington disease (HD) is caused by a genetic defect distal to the anonymous DNA marker D4S10 in the terminal cytogenetic subband of the short arm of chromosome 4 (4p16.3). The effort to identify new markers linked to HD has concentrated on the use of somatic cell hybrid panels that split 4p16.3 into proximal and distal portions. Here we report two new polymorphic markers in the proximal portion of 4p16.3, distal to D4S10. Both loci, D4S126 and D4S127, are defined by cosmids isolated from a library enriched for sequences in the 4pter-4p15.1 region. Physical mapping by pulsed-field gel electrophoresis places D4S126 200 kb telomeric to D4S10, while D4S127 is located near the more distal marker D4S95. Typing of a reference pedigree for D4S126 and D4S127 and for the recently described VNTR marker D4S125 has firmly placed these loci on the existing linkage map of 4p16.3. This genetic analysis has revealed that the region immediately distal to D4S10 shows a dramatically higher rate of recombination than would be expected based on its physical size. D4S10-D4S126-D4S125 span 3.5 cM, but only 300-400 kb of DNA. Consequently, this small region accounts for most of the reported genetic distance between D4S10 and HD. By contrast, it was not possible to connect D4S127 to D4S125 by physical mapping, although they are only 0.3 cM apart. A more detailed analysis of recombination sites within the immediate vicinity of D4S10 could potentially reveal the molecular basis for this phenomenon; however, it is clear that the rate of recombination is not continuously increased with progress toward the telomere of 4p.
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PMID:Increased recombination adjacent to the Huntington disease-linked D4S10 marker. 167 83

Diagnosis of the carrier status of the fragile X [fra(X)] syndrome was made in 2 unrelated women who did not express the fragile site. Both were related to several individuals with a typical fra(X) phenotype and the marker X chromosome. A restriction fragment length polymorphism (RFLP) approach was used with probes that flank the fra(X) locus (FRAXA). The loci used for risk calculations of the fra(X) genotype were DXS98 and DXS105 on the centromeric side and a recently characterized locus, DXS304, on the telomeric side. Coincidence correction for the distances between marker loci and FRAXA was made according to the Kosambi function. The DNA marker test gave the risk for one female to be a carrier of 99.7-99.9%. In another family a female was excluded from being a carrier with a probability of greater than 99.7%. The DNA marker U6.2, defining the locus DXS304, has increased the reliability of DNA based diagnosis of carrier status for females-at-risk. It is concluded that DNA analysis can serve as a valuable complement to chromosome analysis in families informative for the more closely linked flanking markers.
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PMID:Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304. 167 4

A new polymorphic DNA marker RN1, defining locus DXS369, was recently isolated. Using different somatic cell hybrids, RN1 was mapped between markers 4D-8 and U6.2. We have narrowed the localization of RN1 to the region between 4D-8 and FRAXA by genetic mapping in fragile X [fra(X)] families. Combined with information from other reports, the following order of loci on Xq27-q28 is suggested: cen-F9-(DXS105-DXS152)-DXS98-DXS369-FRAXA- DXS304-(DXS52-DXS15-F8)-tel. The locus DXS369 is closely linked to FRAXA, with a peak lodscore of 18.5 at a recombination fraction of 0.05. Therefore, RN1 is a useful probe for carrier detection and prenatal diagnosis in fra(X) families.
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PMID:Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28. 167 6

Genetic factors contribute to heart disease. In this study, linkage analyses have been performed in a family that is predisposed to sudden death from cardiac arrhythmias, the long QT syndrome (LQT). A DNA marker at the Harvey ras-1 locus (H-ras-1) was linked to LQT with a logarithm of the likelihood ratio for linkage (lod score) of 16.44 at theta = 0, which confirms the genetic basis of this trait and localizes this gene to the short arm of chromosome 11. As no recombination was observed between LQT and H-ras-1, and there is a physiological rationale for its involvement in this disease, ras becomes a candidate for the disease locus.
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PMID:Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. 831 39

Recent genetic linkage analyses have mapped the myotonic dystrophy locus to the region of 19q13.2-13.3 lying distal to the gene for creatine kinase subunit M (CKM). The human excision repair gene ERCC1 has also been mapped to this region of chromosome 19. A novel polymorphic DNA marker, pEO.8, has been isolated from a chromosome 19 ERCC1-containing cosmid that maps to a 300-kb NotI fragment encompassing both CKM and ERCC1. Genetic linkage analysis reveals close linkage between pEO.8 and myotonic dystrophy (DM) (zmax = 19.3, theta max = 0.01). Analysis of two key recombinant events suggests a mapping of DM distal to pEO.8 and CKM.
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PMID:Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy. 167 98

We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between DXS296 and DXS304, both of which are closely linked distal markers for fragile X. This regional localization was supported by the analysis, in fragile X families, of recombination events between these three loci, the fragile X locus and locus DXS52, the latter being located at a more distal position. DXS466 is closely linked to the fragile X locus with a peak lod score of 7.79 at a recombination fraction of 0.02. Heterozygosity of DXS466 is approximately 50%. Its close proximity and relatively high informativity make DXS466 a valuable new diagnostic DNA marker for fragile X.
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PMID:New distal marker closely linked to the fragile X locus. 167 26

Malignant melanoma has been documented to display recurring abnormalities of chromosome 6, particularly the long arm (6q). Restriction fragment length polymorphism analysis was used as a molecular genetic approach to examine loci on chromosome 6q for loss of constitutional heterozygosity (LOH). Five DNA markers that recognize restriction fragment length polymorphisms along 6q and one polymorphic DNA marker for 6p were used to screen 20 autologous pairs of tumor DNA and normal DNA to determine the tumor and constitutional genotypes of each patient. LOH on chromosome 6q was identified at 21 of 53 informative loci (40%). Five patients with more than one informative locus had allele losses consistent with the loss of the entire long arm (or of an entire copy) of chromosome 6, while four other patients demonstrated terminal deletions of 6q. The chromosomal region bearing the highest frequency of 6q allelic loss (60%) is defined by the marker loci c-MYB and ESR (6q22-23 and 6q24-27). In contrast to the frequency of 6q loss, LOH was observed at loci on four other chromosomes (1, 11, 16, 17) in only 5% of cases. These results have led us to conclude that the loss of sequences from the long arm of chromosome 6 is a nonrandom and possibly biologically relevant event in human malignant melanoma.
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PMID:Loss of heterozygosity for loci on the long arm of chromosome 6 in human malignant melanoma. 168 May 51

The ret proto-oncogene has been mapped to 10q11.2 near the MEN2A locus by in situ hybridization. We carried out a linkage study of Japanese multiple endocrine neoplasia type 2A (MEN2A) families using a cosmid clone containing the ret proto-oncogene as probe. Two polymorphic alleles (A1 and A2) could be detected by digesting DNA with EcoRI: allele A1 was detected as a 10 kb fragment and A2 as 5.4 and 4.6 kb fragments. Of 11 Japanese MEN2A families analysed, four were informative, and the maximum lod score was 4.23 at a recombination fraction of 0.00. This result suggests the ret proto-oncogene to be close to the MEN2A gene and therefore possibly to be a useful DNA marker for cloning the latter.
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PMID:Tight linkage of the ret proto-oncogene with the multiple endocrine neoplasia type 2A locus. 168 18


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