Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.
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Adult↗
Biomedical subjects
C Clépet
Publications and source records attributed to C Clépet.
Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.
Familial Mediterranean fever is an autosomal recessive disease characterised by multiple attacks of serosal inflammation in the absence of treatment. In the absence of timely diagnosis, renal amyloidosis is a life threatening complication. The diagnosis is often missed because no specific test is available. Early colchicine treatment prevents attacks and renal complications. The FMF gene (MEF) has been mapped to chromosome 16p 13.3 but has not yet been identified. We compared the suitability of a series of microsatellite markers (four of them were new) and propose the routine use of seven of these markers, exhibiting alleles in strong linkage disequilibrium with the disease and informative in 100% of diagnosed patients. Moreover, the discovery of a homozygous status for the 3-3-9 (or 3-3-18) haplotype at the core loci (D16S3070, D16S3082, and D16S3275), which was found in 73% non-Ashkenazi Jewish patients, points to a diagnosis of FMF, even in sporadic cases, with a risk of error of only 2.10(-5). Two extensive pedigrees covering most indications for genetic counselling are presented, showing that it is now possible both prospectively and retrospectively to identify members likely to have MEF mutations. With the help of this accurate test, colchicine treatment can be better targeted, especially where the symptomatology is mild or atypical.
Chromosome Mapping↗
A 10-cM YAC contig spanning GLC1A, the primary open-angle glaucoma locus at 1q23-q25.
Primary open-angle glaucoma is a complex of ocular disorders characterized by irreversible lesions of the optic nerve, open angle of the anterior chamber of the eye and elevated intraocular pressures. GLC1A, a locus involved in one form of this disease, has been mapped to an approximately 9-cM interval within 1q23-q25, between markers D1S445 and D1S416/D1S480. A 10-cM yeast artificial chromosome (YAC) contig spanning the whole region is described. This contig is based on 67 YACs, and 41 sequence tagged sites comprising 23 genetic markers, 16 YAC ends and 2 expressed sequence tags. The reagents reported in this study should be useful tools for the identification of the GLC1A gene by positional cloning.
Chromosome Mapping↗
The human SRY transcript.
SRY encodes the Y-linked testis-determining factor in humans. A predominant 900 bp transcript originates from a single exon and encompasses the putative SRY coding sequence. We show that in human adult testis SRY transcription involves multiple start sites. In addition to a previously defined major initiation site, transcripts originating at least 410 bp upstream of this site were detected. Using a cDNA specific RT-PCR assay, embryonic and adult human tissues were screened for SRY expression. In humans, SRY transcription is not restricted to the presumptive and the mature gonadal tissues in the embryo and the adult respectively but can be detected in a range of other locations. Two human cell lines, NTERA-2 cl.D1 (NT2/D1) and Hep G2, have been identified which express SRY at similar levels to adult testis. The NT2/D1 SRY transcripts appear to have the same structure as those in adult testis. HMBA-induced differentiation of NT2/D1 cells results in a diminution of SRY mRNA, while transcription of SRY in retinoic acid differentiated NT2/D1 is unaffected.
Adult↗