J. L. Serre

TL;DR: A putative scheme with six founder chromosomes is proposed from which most of the observed fragile X-linked haplotypes can be derived directly or by a single event at one of the marker loci, either a change of one repeat unit or a recombination between DXS548 and the mutation target.

TL;DR: The results show that severe hypophosphatasia is due to a very large spectrum of mutations in European populations with no prevalent mutation and that genetic diagnosis of the disease must be performed by extensive analysis of the gene.

TL;DR: The prenatal diagnosis of cystic fibrosis is now routinely performed by using two probes tightly linked to the CF locus (XV2C and KM19), consistent with the hypothesis of a unique ancestral mutation initially associated with a B (D1E2) restriction fragment length polymorphism (RFLP) haplotype, subsequently reassociated by cross-over with A, C or D haplotypes.

TL;DR: It can be hypothesized that a gene involved in predisposition to ADCC maps to region 11p15, the region involved in Beckwith-Wiedemann syndrome, because of evidence for specific somatic chromosomal events leading to loss of 11p 15 alleles in familial cases of ADCC.

TL;DR: 41 families with cystic fibrosis were tested for restriction fragment length polymorphisms (RFLPs) detected by four DNA probes all of which are tightly linked to the CF gene; however, those with and those without meconium ileus differed in haplotype for CF chromosomes with respect to pJ3.11, which suggests that because of multiallelism some CF patients present with meconies and others do not.