308 Result(s)
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Article
Antigen-binding receptors on T cells from long-term MLR. Evidence of binding sites for allogeneic and self-MHC products
Antibody inhibition of radiolabelled stimulator membrane vesicle binding by T blasts activated in the mixed lymphocyte reaction (MLR) was used to identify responder-cell determinants involved in the binding ph...
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Ovarian development in 46,XY gonadal dysgenesis
In human the XY ovary is degenerative, there being scant evidence of persistence of that organ beyond the perinatal period. Here we describe indications of functional ovarian tissue in a 17-year-old female wit...
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An Ia-positive mouse T-cell clone is functional in presenting antigen to other T cells
In this report we present data demonstrating the endogenous expression of I-region associated (la) antigens on a cloned line of mouse T cells, CTLL, as well as transcription of the invariant chain gene in thes...
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Article
Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels
A G-to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipoprotein B100 and causes a loss of an MspI site....
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Article
Different haplotypes for cystic fibrosis-linked DNA polymorphisms in Polish and Dutch populations
We analyzed DNA from 34 Polish and 63 Dutch cystic fibrosis (CF) patients and their families using the polymorphic markers XV2c and KM19, which are in linkage disequilibrium with the CF mutation. Strong linkag...
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Article
Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8
Three polymorphic DNA markers surrounding the D7S8 locus were tested for their usefulness in the diagnosis of cystic fibrosis (CF) by linkage analysis. The markers correspond to the loci D7S424 and D7S426. The...
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The recombination activating genes, RAG 1 and RAG 2, are on chromosome 11p in humans and chromosome 2p in mice
The recombination activating genes RAG-1 and RAG-2 are adjacent genes that act synergistically to activate variable-diversity-joining (V(D)J) recombination. Southern analysis of hybrid cell lines derived from pat...
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Article
Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q
Autosomal recessive Duchenne–like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to Duchenne muscular dystrophy (DMD). Three highly inbre...
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Article
A point mutation in the FMR-1 gene associated with fragile X mental retardation
The vast majority of patients with fragile X syndrome show a folate–sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG i...
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The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm
Fragile X syndrome is characterized at the molecular level by amplification of a (CGG)n repeat and hypermethylation of a CpG island preceeding the open reading frame of the fragile X gene (FMR–1) located in Xq27....
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Article
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity map**
Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, ...
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Article
Founder effect in a Belgian-Dutch fragile X population
For many years, the high prevalence of the fragile X syndrome was thought to be caused by a high mutation frequency. The recent isolation of the FMR1 gene and identification of the most prevalent mutation enab...
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Article
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
Triphalangeal thumb is a developmental anomaly, sometimes dominantly transmitted, characterized by a long, finger–like thumb with three phalanges instead of two. The underlying genetic defect is unknown, but p...
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Article
A complex bilateral polysyndactyly disease locus maps to chromosome 7q36
We demonstrate that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre– and postaxial anomalies of the extremities are inherited in this family...
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Article
Striking sequence similarity over almost 100 kilobases of human and mouse T–cell receptor DNA
We report here the comparative DNA sequence analysis of nearly 100 kilobases of contiguous DNA in the Cδ to Cα region of the α/δ T cell receptor loci (TCRAC/TCRDC) of mouse and man. This analysis — the largest ge...
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Article
Structural analysis of the mouse T-cell receptor Tcra V2 subfamily
Cosmid clones containing T-cell receptor Tcra V2 subfamily gene segments have been isolated from a BALB/c cosmid library and subjected to DNA sequence analysis. The V gene segments in the Tcra V2 subfamily differ...
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Article
Familial hyperinsulinism maps to chromosome 11p14–15.1, 30 cM centromeric to the insulin gene
Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non–Jewish Caucasian...
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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35
Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described — autosomal dominant forms (ALS1, ALS3), clinically indistinguis...
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Article
Apparent regression of the CGG repeat in FMR1 to an allele of normal size
The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regres...
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Article
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
Three folate-sensitive fragile sites, termed FRAXA, FRAXE and FRAXF, have been identified on the distal end of chromosome Xq. The first two contain expanded, hypermethylated and unstable CGG (or GCC) repeats w...
