Biomedical subjects
Publications and source records attributed to G Lucotte.
This study concerns French families with Alzheimer's disease (13 families, with 37 diseased individuals). The incidence of female patients is higher than that of males. Variance of the age of onset is less important for intra-familial than inter-familial cases. The mean duration of the disease is shorter for early onset forms. One of these families was retained for molecular genetics studies.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Maternal venous blood samples, obtained from six pregnant women, were used as a source of fetal nucleated erythrocytes (NRBC). Fetal cell enrichment was potentiated by flow sorting with the monoclonal antibodies TfR, Leu-4, and Leu-M3. Single copy Y chromosomal DNA sequences were detected in samples obtained from two women at 11 and 12 weeks' gestation. Y DNA sequences were absent in a subsequent sample from one of these women at 19 weeks and in two other women at 16 and 20 weeks. All four women delivered males. Y DNA sequences were not detected in two women who delivered females. By combining these results with prior data on the detection of Y chromosomal DNA sequences in maternal blood from male-bearing pregnancies, a relationship between gestational age and feto-maternal transfer of NRBC is suggested.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The nucleotide sequence of probe 49a, a genomic polymorphic probe located on the long arm of the Y chromosome, is described. It is an untranslated sequence of about 750 bp with a high A + T content. This sort of selectively neutral sequence can be used with the polymerase chain reaction in sex determination.
The TaqI/p49 Y-specific RFLPs were studied in 59 Australian aborigines. A new haplotype was found (not present in Caucasians and Africans, number XXV). In the revised genealogy of haplotypes, Australian haplotypes appear to occupy an intermediate position between African Pygmies and Papua haplotypic repartitions, while the most common Australian haplotypes (haplotype III, 25% of the subjects) is apparently derived from them.
The presymptomatic diagnosis of Huntington chorea (HC) by genic amplification (PCR: polymerase chain reaction) of a DNA G8 sequence containing a polymorphic HindIII site was tested in a particular HC genealogy. The advantage of this method are discussed.
Cervical biopsies collected from 105 consecutive patients participating in a prospective follow-up study for cervical human papillomavirus (HPV) infections were tested for the presence of HPV 6, 11, 16 and 18 DNA by the slot-blot hybridization method. Detectable HPV types 6 and 11 could be distinguished in high stringency hybridization assay. The overall HPV-DNA detection rate was 35.2% in our group of patients. The slot-blot technique is more rapid than Southern-blotting procedure and well suited for analysis of multiple specimens.
Huntington disease (HD) is a neurodegenerative disorder caused by an autosomal dominantly inherited defect. The discovery of DNA polymorphisms genetically linked to the HD locus provided the possibility of an early presymptomatic test. The first marker locus described (G-8) had an approximately 5% recombination rate with the HD locus, and the subsequent discovery of some more tightly linked marker loci, notably D 495, has greatly improved the accuracy of presymptomatic testing. We describe here the preliminary results obtained and the difficulties encountered in a French predictive testing program on presymptomatic subjects belonging to choreic families.
A new cloned DNA probe (U6.2), which recognizes a TaqI polymorphism near the locus for the fragile-X syndrome, was tested in a great Xq-fra pedigree. In the corresponding four families studied, the probe is informative and no recombinations were observed between the probe and the disease locus, although recombinational events were observed with several other probes tested in the past. The locus defined by the probe, DXS304, cosegregated with the fragile-X phenotype in 20 informative meioses (z = 3.09, theta = 0.00). The degree of polymorphism at this locus and its proximity to the fragile-X locus makes it useful for diagnostic applications.
The TaqI/p49 Y-specific RFLPs were studied in 98 Indians coming from 3 locations in the country. A new allele (G0) and five new haplotypes (XX-XXIV) were found, not present in Caucasians and in Africans. In the genealogy of haplotypes, the new Indian haplotypes appear grouped together, and all Indian haplotypes occupy an intermediate position between Caucasian and African haplotypes.
We describe a simple slot-blot hybridization procedure with an oligo-probe for identification of amplified HIV-1 DNA in seropositive subjects. Comparison are realized, on the same DNA samples, with other methods DNA detection including Southern blot tests after hybridization with a labelled probe, and autoradiographic patterns after digestion with a restriction enzyme of the amplified product hybridized. This new direct approach towards diagnosis of HIV-1 infection easily be carried out on a large scale.
Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alpha-globin locus known to be closely linked to the disease gene in adult onset ADPKD. In the families studied here, close linkage (theta max = 0.09 at zmax = 2.32) was also observed between the marker and disease loci. These results provide no evidence for genetic heterogeneity of ADPKD in families with early and adult onset.
By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. This exclusion map shows that more than 80% of the genome has been excluded as a likely location of any locus responsible for FSHD in the majority of families. Chromosomes 3, 5, 10, 11, 15, and 19 remain largely unexcluded. Concentration on the highlighted areas of the genome should facilitate the identification of the site of the FSHD gene.