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Biomedical subjects

G Lucotte

Publications and source records attributed to G Lucotte.

At least 127 records · Page 7Linked to original sources
PubMed1989

Linkage analysis of French families with facioscapulohumeral muscular dystrophy.

Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic DNA probes were studied, including random DNA sequences, coding sequences, and a hypervariable marker. No evidence for linkage of these probes to the disease was detected, and the results exclude probable location of the FSHD gene from three chromosomal regions (16p, proximal 19q, and 21q).

Chromosome Mapping↗
PubMed1989

Y chromosome DNA polymorphisms in two African populations.

Y chromosome-specific DNA polymorphisms were detected using probe p49f after restriction with TaqI enzyme on samples coming from two African populations: Bantus and Pygmies. All the main TaqI alleles at five Y loci already found in Caucasians are also found in these two populations; 12 of the 16 Caucasian haplotypes were found in these two African populations, and two new haplotypes are Pygmy specific. A proposed phylogeny of the various haplotypes that was derived by using the parsimony criterion established that haplotypes XIII and XVIII, respectively the most frequent one and only one present in Pygmies, are probably ancestral.

Alleles↗
PubMed1989

[Lack of evidence of genetic heterogeneity in a family with adult polycystic kidney (autosomal dominant) distinguished by early onset].

Molecular hybridization experiments with the 3' HVR probe, located near the alpha globin gene, with DNAs coming from the different members of an unusual family with adult polycystic kidney disease, but with early manifestation, shows cosegregation between one of the marker's allele and the susceptibility gene of this disease; these results provide no evidence for a different gene locus responsible for the "adult-type" onset in this family.

Adolescent↗
PubMed1989

Molecular deletion patterns in Duchenne muscular dystrophy patients.

We have studied 30 French patients with X-linked muscular dystrophy of the Duchenne (DMD) and Becker (BMD) types for intragenic deletions, using the cDNA probes of the DMD/BMD gene. Sixteen patients (53%) had molecular deletions in one or several of the 65 Hind III fragments containing exons detected with the DNA probes; in four deletion cases junction, fragments of altered size were seen. Fourteen (87%) of the deletions were detected using only two (1-2a and 8) and fifteen with 8+(2b-3) of the cDNA subclones. In our limited sample, BMD was caused by deletions in the 5' end of the gene, and in two instances of DMD, deletions of similar types resulted in diseases of similar severity. Of two patients with mental retardation, both had deletions comprised exons contained in probe 8, but other patients without mental retardation are also deleted with probe 8. We conclude that cDNA hybridization studies provide a powerful diagnostic tool in DMD and BMD families.

Chromosome Deletion↗
PubMed1988

Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe.

Segregation studies of X-linked adrenoleukodystrophy (ALD) and a cloned desoxyribonucleic fragment (factor VIII gene), which detects polymorphism in the distal end of the long arm of the X chromosome (Xq28), are reported in a large sibship ALD family. The findings should permit better identification of carriers and add a new marker for identifying the ALD gene itself.

Adrenoleukodystrophy↗
PubMed1988

[Techniques of DNA polymorphisms revealed by probes for the Y chromosome applied to questions of father-son line in analyses of paternity].

The Y specific probe (two 49f and 49a sub-clones) is a polymorphic one for the A (5 alleles), C (2 alleles), D (3 alleles), F (2 alleles) and I (2 alleles). We show that the corresponding allelic combinations, or haplotypes, are transmitted father-to-son in eleven random chosen families. Utilisation of these polymorphisms in other eleven father-son paternitity cases, studied for a panel of erythrocytic and seric markers, shows a good correlation between the two approaches, most of the paternies excluded by the Y probes being also excluded with other allotypic markers. Utilisation of this sort of polymorphism does not necessitate the knowledge of maternal genotype in families studied.

DNA Probes↗
PubMed1988

Follow-up of subjects with isolated and persistent anti-core (anti-p24 or anti-p17) antibodies to HIV.

Systematic screening of blood donations by enzyme-linked immunosorbent assay (ELISA) for HIV antibodies carries a false-positive rate: the sera involved react in Western blot to core antigens (p24 or p17) but reactivity to envelope is absent. We studied 22 subjects with persistent and isolated anti-core reactivities; 75 HIV seropositive patients were controls. The epidemiological data and the follow-up and biological tests performed in these two populations argue that donors with persistent and isolated anti-core antibodies are not seroconverting for HIV. We conclude: (1) that verification of all anti-HIV ELISA-positive sera by Western blot is essential and that the presence of at least once anti-envelope (gp120 or gp41) antibody is indispensable for the diagnosis of HIV infection; (2) that the solitary anti-p24 or anti-p17 bands observed on Western blot are false-positive. There is no evidence that donors with such reactivities are HIV-infected.

Adult↗
PubMed1988

Absence of a close linkage between Alzheimer's disease susceptibility gene and a polymorphic DNA probe coding for beta-amyloid.

The hypothesis of a connection between Alzheimer's disease (AD) gene and the probe coding for beta-amyloid (beta-A), located on chromosome 21, was investigated in a large study group from Calabria, in which AD was transmitted as an autosomal dominant Mendelian trait. Segregation analysis of one EcoRI restriction polymorphism of beta-A, after molecular hybridization with a long cDNA probe of DNAs from key-individuals in the study group, determined that there was not a close connection between AD and beta-A.

Alzheimer Disease↗
PubMed1988

[Absence of a close linkage between Alzheimer's disease and the polymorphic probe coding for superoxide dismutase 1].

The hypothesis of a tight linkage between Alzheimer's disease (AD), a presenile dementia, and the probe coding for superoxide dismutase 1 (SOD 1), located on chromosome 21 at 21q22, has been investigated in a large family originating from Calabria, in which AD is transmitted as an autosomal dominant mendelian trait. Analysis of the Msp I restriction polymorphism, after molecular hybridization with the probe of DNAs coming from 22 subjects of the pedigree, allowed to the demonstrate that there wasn't any tight linkage between AD and the marker studied.

Alleles↗
PubMed1988

[Identification of asymptomatic forms of type I amyloid neuropathy].

Results of DNA analysis in 8 patients with type I amyloid neuropathy (ANI) are reported. A direct link exists between the mutated gene of the prealbumin and the ANI. Carriers of the gene mutating for prealbumin were identified. Autoradiographs after hybridization with a prealbumin probe allowed detection of children who will develop the disease. The molecular probe used was developed for the Japanese form of NAI and allowed affirmation of the identical nature of the neuropathy identified by Araki in Kiu-Shiu and the Portuguese form of Porto.

Amyloidosis↗