Showing papers by "Jean-Louis Mandel published in 1989"
82 citations
TL;DR: A linkage analysis with chromosome 9 markers was performed in 33 families with Friedreich ataxia and D9S15, previously established by S. Chamberlain et al. (1988), was confirmed in the authors' sample.
68 citations
TL;DR: Segregation analysis was performed in three families affected in X-linked agammaglobulinemia with five polymorphic DNA probes linked to the disease locus and indicates the value of probe p212 for carrier detection and prenatal diagnosis of XLA.
Abstract: Segregation analysis was performed in three families affected in X-linked agammaglobulinemia (XLA) with five polymorphic DNA probes linked to the disease locus. In agreement with previous studies, no recombination was observed with either pXG12 (DXS94) or S21 (DXS17). Segregation analysis was also performed with a marker, p212 (DXS178), which has been shown to be closely linked to pXG12 in normal families. No cross-over with XLA was observed in these three families and in five additional families previously analyzed with DXS17 and DXS94 (z = 5.92 at theta = 0). These data provide evidence against genetic heterogeneity in XLA and indicate the value of probe p212 for carrier detection and prenatal diagnosis of XLA. We were able to estimate the carrier status of six females (out of six) in the three previously unreported families.
55 citations
TL;DR: The preliminary physical map presented here should be useful for further fine mapping of disease genes in the Xq28 region and should be helpful in orientating efforts toward the cloning of sequences close to the fragile X syndrome.
42 citations
TL;DR: An X chromosome probe, St35.691 (DXS305), which detects two RFLPs with TaqI and PstI, whose combined heterozygosity is about 60% should be useful in the precise mapping of the many disease genes that have been assigned to the Xq28 band.
Abstract: We have isolated an X chromosome probe, St35.691 (DXS305), which detects two RFLPs with TaqI and PstI, whose combined heterozygosity is about 60%. This probe has been assigned to Xq28 by physical and genetic mapping and is very closely linked to DXS52, DXS15, and the coagulation factor VIII gene (F8C). The best estimate of the recombination fraction for the DXS52-DXS305 interval is 0.014, with a lod score of 50.1. Multipoint analysis places DXS305 on the same side of F8C as DXS52, but complete ordering of the three loci was not possible with our present data. This highly informative marker should be useful in the precise mapping of the many disease genes that have been assigned to the Xq28 band.
18 citations
TL;DR: It is reported that the polymorphic probe U6.2 (locus DXS304) is much closer to the fragile X locus than all the previously reported markers, and represents a major improvement for carrier detection and prenatal diagnosis in fragile X families.
17 citations