Two Taq I RFLPs for human alpha-2 macroglobulin (alpha 2M) using a full length cDNA probe.
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Chromosomes, Human, Pair 12↗
Biomedical subjects
G Lucotte
Publications and source records attributed to G Lucotte.
DNA polymorphisms associated with HLA-B-like genes and evidence for a duplication of B40 genes detected with an HLA-B-specific DNA probe.
Analysis of polymorphic DNA endonuclease restriction fragments by Southern blotting indicates that the genetic complexity of the HLA class I gene family is larger than the complexity indicated by serologically defined HLA-A, -B and -C gene products (Orr et al., 1982). There are correlations between polymorphic restriction endonuclease fragments in a limited number of HLA class I alleles; in fact, a few alleles in the population have been correlated with the presence of polymorphic DNA fragments (Cann et al., 1983; Cohen et al., 1983; Orr & De Mars, 1983; Lucotte, Coulondre & Salmon, 1985; Driesel et al., 1985). Recently, probes shown to be specific for HLA-A and HLA-B genes (Grumet et al., 1983; Koller et al., 1985) were constructed from the 3'-untranslated region of these genes.
HLA Antigens↗
[TaqI restriction polymorphism and the HLA-B27 allele in ankylosing spondylitis].
The restriction polymorphism Taq I of the 3.5 kb fragment of Class I HLA sequences is tested in patients suffering from ankylosing spondylarthritis, with or without antigen HLA B27. In a reference population, the frequency of this polymorphism is higher than that of allele B27. All B27 individuals, ill or not, present the polymorphic band, also present in some individuals B12. The distribution of this band is studied, in unrelated individuals serotyped for HLA B as well as members of families with spondylarthritis. The presence of the variable 3.5 kb band is not automatically correlated with the gene of the disease in corresponding individuals.
Alleles↗
[Absence of linkage between Alzheimer's disease and a polymorphic probe of the long arm of chromosome 21].
The hypothesis of an eventual linkage between Alzheimer's disease (AD), a presenile dementia, and the genomic probe GMG 21 S3, located on the long arm of chromosome 21, has been investigated in a large family originating from Calabria, in which AD is transmitted as an autosomal dominant mendelian trait. Analysis of the Bgl II restriction polymorphism, after molecular hybridization with the probe, of DNAs coming from 28 subjects of a pedigree, from which 10 individuals are affected, allowed to demonstrate that there wasn't any linkage between AD and the marker studied.
Alzheimer Disease↗
[Polymorphism of p49 Y-specific probe in Papuas Baruyas of Papua New Guinea].
Taq I polymorphism revealed after molecular hybridization with the Y-specific p49 probe was studied in male Papuas, Baruya tribe, living in the Wonenara valley. All individuals screened were identical at the variable loci A, C, F and I, and fixed for the specific allele Db. The deduced haplotype, number 17 (A2, C0, Db, F1, I1) is Baruya-specific.
Alleles↗
Taq I restriction polymorphism of HLA class-I genes, and hybridization with HLA-A and HLA-B specific probes.
Restriction enzyme site polymorphisms for Taq I endonuclease are examined in a panel of DNAs of HLA-typed individuals and families. Using a full-length DNA probe, 13 polymorphic bands were detected in a total of 31 restriction fragments analyzed. Only one of them (the 3.5-kb polymorphic band) correlated absolutely with serological allele B27, as already established. The A- and B-specific probes recognized only a very small subset (4 for the A probe, and 2 for the B probe) of the DNA fragments which were hybridized with the full-length DNA probe. For each of these two loci, a frequent polymorphism was described, which correlated with serologic haplotypes in several families studied.
Alleles↗
A 1.4-kb BamHI restriction fragment of genomic DNA correlates with the birdshot retinochoroidopathy susceptibility gene.
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Alleles↗
Taq I polymorphism of HLA class I genes in an ankylosing spondylitis family.
A 3.5-kb HLA class I fragment is polymorphic in an ankylosing spondylitis (AS) family. All B27 AS patients show the 3.5-kb band, which is also present in B12 AS patients in this family. When hybridized with an HLA-B-specific probe, the polymorphic band is revealed in B12 patients, but not in B27 patients.
Alleles↗
Carrier testing strategy in haemophilia A using two polymorphic DNA probes of the factor VIII gene.
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DNA↗
[Strategies for detecting restriction polymorphisms of Y chromosome sequences].
Six cloned genomic sequences from the human Y chromosome were used for the detection of restriction polymorphisms in a panel of unrelated DNAs. Three sorts of strategies for the detection of polymorphisms were used: (a) mixing individual DNAs restricted by several endonucleases, (b) separated restrictions of the DNA library members with six different restriction enzymes, (c) individual DNA digestion with TaqI and MsqI. Results show that restriction polymorphisms are detected only rarely; this result can be explained by exemption of most of the Y chromosome from meiotic pairing and exchange.
Base Sequence↗
[Towards a genealogy of chromosome Y].
Taq I restriction polymorphisms of the 49 f genomic probe are used to establish a possible filiation of the Y chromosome in human populations. Relationships between alleles at the five polymorphic loci revealed by the probe allow the description of 17 haplotypes. Simulations are used to construct a plausible genealogy of these various haplotypes, on the basis of a limited set of basic hypotheses concerning polymorphic alleles evolution.
Biological Evolution↗
Restriction fragment length polymorphism of the human C3 complement gene.
A cloned gene-specific probe for human complement (C3) was hybridized to DNA samples digested with various restriction endonucleases. The C3 probe detects one restriction fragment length polymorphism (RFLP) that occurs frequently in the French population when DNAs are digested with Sac I. The corresponding DNA alleles can be readily used in linkage analysis of loci on chromosome 19, and such a polymorphism can be followed through myotonic dystrophy families.
Chromosomes, Human, Pair 19↗
Association between a 10 kb Pvu II restriction fragment of genomic DNA with the hemochromatosis gene.
This study concerns the association between the hemochromatosis susceptibility gene and a 10 kb Pvu II HLA-class I specific restriction fragment. Forty Pvu II fragments are detected after hybridization with A3 or B7 probes, and 20 among them are polymorphic. The 10 kb polymorphic Pvu II fragment correlates absolutely with the A3 serological allele and patients with hemochromatosis, heterozygous or homozygous for A3, have the 10 kb Pvu II band.
Alleles↗
A DNA probe detecting multiple haplotypes of the human Y chromosome.
We have characterized a DNA probe (49f) that detects about 15 Y-specific TaqI bands corresponding to a low-copy number sequence. Five of these bands, each representing a single DNA fragment, can either be present, absent, or variable in length. Familial segregation studies have shown that the variations of these fragments are inherited in a Mendelian fashion and strictly Y-linked. A survey of 44 male individuals indicated that the five variable TaqI fragments detected by probe 49f can be considered as five independent allelic series. Each series represents the different and mutually exclusive allelic forms observed for a single DNA fragment. A total of 16 haplotypes, each defined by a different combination of the various forms of each of these five restriction fragment length polymorphisms, were observed among the 44 scored individuals. These TaqI restriction polymorphisms are not observed with other restriction digests and have therefore been attributed to point mutations. The five polymorphic fragments map to Yq11, a region that does not recombine with the X chromosome and are therefore not redistributed. This implies that an apparently independent reassortment of one of these series with respect to the others can be explained only on the basis of mutations that occurred several times (or reverted) during evolution of the Y chromosome. However, an examination of the different combinations of two or more allelic series suggests that some alleles are not randomly distributed and raises the possibility of establishing a genealogy of the human Y chromosome.
Alleles↗
[Characteristic parameters of the population of circulating DNA in cases of disseminated lupus erythematosus ].
Important quantities of circulating DNA (up to congruent to 50 micrograms/ml) have been shown to be present in the sera of patients with serious systemic lupus erythematosus. This DNA is double-stranded, as demonstrated by colorimetric, enzymatic and biophysic tests. The circulating DNA population is made up of a main fraction at 250 base pairs and a heterogeneous tail up to 300 bases pairs, as demonstrated by electrophoretic measures on polyacrylamide gel. After hydrolysis in limited conditions with DNAse I and 32P labelling, the repartition of autoradiographed material confirms the reality of a main peak and of a more dispersed tail.
Autoradiography↗
p49f, A highly polymorphic probe, that detects Taq1 RFLPs on the human Y chromosome.
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Cosmids↗
Structural basis for restriction-site polymorphism at the albumin locus in inbred strains of rats.
Two types of variant EcoRI restriction enzyme patterns of albumin-gene DNA fragments are found in different inbred strains of rats and reflect allelic polymorphism. The structural basis of the two allelic forms has been analyzed by mapping the EcoRI fragments using cloned albumin cDNA probes corresponding to the 5' or 3' end of the rat albumin mRNA and different genomic subclones. Additional restriction fragment length polymorphism has been detected using the restriction endonucleases HindIII and MspI. The results suggest that the two allelic variants differ from each other by multiple cleavage-site variations (base-pair substitutions) and by an insertion or deletion of DNA sequences. An extensive DNA sequence variation appears to exist between the two forms of the albumin gene; we have estimated that as much as 4% of the nucleotides in this region varied between the two alleles. All of this genetic variation is found in the intervening sequences of the gene and has no phenotypic manifestation.
Alleles↗
[Strategies for the detection of DNA polymorphism in human populations].
We develop here several models concerning strategies for detection of restriction polymorphisms in humans. These different strategies concern the numbers of individuals to test in a DNA collection, the nature of restriction enzyme to utilize, and the length of the probes. For enzyme utilization different strategies are based on (i) the nature of the restriction site; (ii) the mean length of restriction fragments obtained; (iii) the methylated cytosine characteristics in the CG doublets. Each of these approaches are tested in experimental situations.
DNA↗