Dinucleotide repeat polymorphism at the human c-fms proto-oncogene for the CFS-1 receptor (CFS1R)

Polymeropoulos, Mihael H.; Xiao, Hong; Rath, D.S.; Merril, Carl R.

doi:10.1093/nar/19.5.1160-a

Cited by 16 publications

(4 citation statements)

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“…The three remaining markers were intragenic, using the following primers (annealing temperatures in parentheses): interleukin-4 (IL4-RP1) (Third intron), 5'-CTCAAAGTGCTGGGAT-TAGC-3' and 5'-AGCCATCTCGGTTGGATGGA-3' (57°C); 12 interleukin-9 (IL9) (fourth intron) 5'-AGGCTTT-CTCTAATGCAGAG-3' and 5'-GGTGGTTGACCT-CAAATTGG-3' (53°C); 13 colony stimulating factor 1 receptor (CSF1R) (second intron) 5'-TGTGTCCAGCCT-TAGTGTGCA-3' and 5'-TCATCACTTCCAGAATGTGC-3' (53°C). 14 …”

Section: Genotyping Using Microsatellitesmentioning

confidence: 99%

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

et al. 1999

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Three hundred million individuals are at risk of infection by schistosomes, and thousands die each year of severe hepatic disease. Previous studies have shown that the intensity of infection by Schistosoma mansoni in a Brazilian population is controlled by a major gene, denoted as SM1. We report here the full results of a genome-wide search that was performed on this population to localise SM1. Two hundred and forty-six microsatellites were used for the primary map, and only one region in 5q31-q33 provided significant evidence of linkage. SM1 was subsequently mapped to this region, which contains several genes encoding cytokines or cytokine receptors which are involved in protection against schistosomes. Three additional regions, 1p22.2, 7q36 and 21q22-22-qter, yielded promising, although not significant, lod-score values. These regions contain candidate genes encoding cytokines or molecules relevant to anti-schistosome immunity.

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Section: Genotyping Using Microsatellitesmentioning

confidence: 99%

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

et al. 1999

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“…Cell hybrids were examined cytogenetically by G-banding to determine if the human chromosome 5 was intact. The cell hybrids were then characterized by typing with one or more highly polymorphic markers (D5S209 Cl.81, D5S378 [17], D5S377 1171, and CSFlR [20]) located near the STHE locus for which the corresponding individual was known to be heterozygous. Based on linkage data from the respective families we were able to distinguish hybrid cell lines containing the chromosome 5 with the STHE allele from hybrid cell lines containing the normal chromosome 5 homologue.…”

Section: Radiation Cell Hybridsmentioning

confidence: 99%

Mutational analysis of familial and sporadic hyperekplexia

Shiang

Ryan

Zhu

et al. 1995

Annals of Neurology

119

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Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected in 4 unrelated hyperekplexia families; both mutations were at nucleotide 1192 and resulted in the replacement of Arg271 by a glutamine (R271Q) in one case and a leucine (R271L) in the other. Here, 5 additional hyperekplexia families are shown to have the most common G-to-A transition mutation at nucleotide 1192. Haplotype analysis using polymorphisms within and close to the GLRA1 locus suggests that this mutation has arisen at least twice (and possibly four times). In 2 additional families, a third mutation is also presented that changes a tyrosine at amino acid 279 to a cysteine (Y279C). Five patients with atypical clinical features and equivocal or absent family history of hyperekplexia and 1 patient with a classical presentation but not family history are presented in whom a mutation in the GLRA1 gene was not detected. Thus, only clinically typical hyperekplexia appears to be consistently associated with GLRA1 mutations, and these affect a specific extracellular domain of the protein.

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“…Sixty-three markers were analyzed, resulting in exclusion of approximately 50% of the human genome (data not shown). A microsatellite marker at the CSFlR locus, which has been physically mapped to 5q33.3-q34 [18,[24][25][26], was found to be tightly linked to S T H E (Figs 1-3). Under the hypothesis of complete penetrance, the maximum likelihood estimate of the sex-averaged recombination rate between STHE and CSFIR loci is 3.2(%, supported by an odds ratio of more than 10,000,000: 1 (lod score, 7.10; see Fig 3).…”

Section: Linkage Analysiimentioning

confidence: 99%

Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis

Sg¹,

Jc³

et al. 1992

Annals of Neurology

110

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Familial startle disease (also known as hyperekplexia and congenital "stiff-man" syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction of sudden, unexpected auditory or tactile stimuli; affected neonates also have severe and occasionally fatal hypertonia. We recently encountered a large, five-generation family with startle disease, and treated 16 patients (including 1 neonate) with clonazepam; all experienced dramatic and sustained improvement. We performed systematic linkage analysis in this family, and found tight linkage between the disease locus and a polymorphic genetic marker locus (colony-stimulating factor receptor, or CSF1R) that has been physically mapped to chromosome 5q33-q35. The maximum odds ratio favoring linkage over nonlinkage is greater than 10,000,000:1 (lod score, 7.10) at 3% recombination. Several genes encoding neurotransmitter receptor components have been physically mapped to the subtelomeric region of chromosome 5q, and are thus candidates for the startle disease gene. The availability of additional large pedigrees with startle disease should facilitate identification and characterization of the gene for this disorder.

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Dinucleotide repeat polymorphism at the human c-fms proto-oncogene for the CFS-1 receptor (CFS1R)

Cited by 16 publications

References 0 publications

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

Mutational analysis of familial and sporadic hyperekplexia

Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis

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