PubMed Health⌕ Search

Biomedical subjects

M Bellis

Publications and source records attributed to M Bellis.

At least 55 records · Page 3Linked to original sources
PubMed1992

3' Alu PCR: a simple and rapid method to isolate human polymorphic markers.

Microsatellites, such as (TG)n found at random throughout the genome, or as 3' extensions of Alu sequences are being increasingly used as genetic markers because of their pluriallelic character. The search for polymorphic microsatellites is time consuming, however, as it is necessary to sequence clones containing the microsatellites sequences in order to design specific PCR primers before testing for polymorphism, which does not always occur. We propose here a new approach to generate polymorphic markers, based on the amplification of microsatellites at the 3' end of Alu sequences, without the need for cloning or sequencing steps.

Base Sequence↗
PubMed1992

Discrimination between alpha-satellite DNA sequences from chromosomes 21 and 13 by using polymerase chain reaction.

alpha-Satellite subfamilies from chromosomes 21 and 13 are almost identical in sequence and cannot be distinguished from each other by hybridization techniques. A general method based on membrane-bound PCR is described here, allowing the discrimination of alpha-satellite DNA sequences from each of these two chromosomes, after detection by Southern blot hybridization. The PCR conditions were developed using somatic hybrid DNAs. The method was tested in membrane-bound PCR by using the alpha-satellite bands from a Southern blot of a CEPH family. The chromosomal origin of these bands, previously determined by linkage analysis, was confirmed by this method.

Animals↗
PubMed1992

Foregoing life-sustaining treatment for adult, developmentally disabled, public wards: a proposed statute.

This Article proposes a procedure for making decisions to forego life-sustaining treatment for adult, developmentally disabled, public wards who are not competent to make health care decisions. Few commentators or cases address the special considerations involved in making life-sustaining treatment decisions for this patient population. The proposal attempts to fill this gap with a patient-centered process that allows decisionmakers, without prior judicial approval, to forego life-sustaining treatment for adult, developmentally disabled, public wards who have been reliably diagnosed with specific medical conditions.

Adult↗
PubMed1991

TaqI reveals two independent alphoid polymorphisms on human chromosomes 13 and 21.

We have analysed the TaqI patterns obtained with an alphoid DNA probe specific for human chromosomes 13 and 21 in a number of unrelated individuals, as well as in the somatic hybrid WA 17 which carries chromosome 21 as a unique human chromosome. In certain individuals, two types of extra bands are superimposed over the relatively simple basic banding pattern exhibited by all individuals. Thus, three independent allele-specific DNA patterns are defined. The basic and normal organization of the alpha satellite in chromosome 21 consists of tandemly arranged arrays of repeats representing 11 times the 171-bp monomer of the alphoid DNA sequences. The supernumerary bands found in some individuals are organized in tandemly arranged subsets of repeats representing 18 times and 9.5 times the 171bp basic monomer, respectively. These less fragment alleles segregate in a Mendelian fashion. Linkage analyses suggest that they originate from chromosomes 13 and 21, respectively.

Chromosomes, Human, Pair 13↗
PubMed1991

Structural organization and polymorphism of the alpha satellite DNA sequences of chromosomes 13 and 21 as revealed by pulse field gel electrophoresis.

More than 30 unrelated individuals were analysed by pulse field gel electrophoresis for the alphoid centromeric sequences of chromosomes 13 and 21. These individuals had DNA patterns all different from each other and were most probably heterozygous at both loci. When several nuclear families were analysed in this manner, segregation was shown to be Mendelian, and no recombination event was detected over the 150 meioses scored in this study. Alphoid DNA sequences, therefore, constitute highly polymorphic centromeric markers, which can be used in linkage analysis for loci close to the centromeres of chromosomes 13 and 21.

Chromosomes, Human, Pair 13↗
PubMed1991

On the mode of evolution of alpha satellite DNA in human populations.

The hypothesis that highly reiterated satellite DNAs in present-day populations evolve by molecular mechanisms that create, by saltatory amplification steps, new long arrays of satellite DNA, and that such long arrays are used for homogenization purposes, has been tested both in mouse and in humans. In mouse, the data obtained are consistent with this hypothesis. This was tested in more detail on chromosomes 13 and 21 of the human genome. A Centre d'Etudes du Polymorphisme Humain family, which in some individuals exhibits strong supplementary DNA bands following TaqI restriction endonuclease digestion and conventional gel electrophoresis, was analyzed by pulse field gel electrophoresis following restriction by BamHI. The supplementary bands on chromosome 13 (18 times the basic alpha satellite DNA repeat) and on chromosome 21 (a 9.5-mer) segregated with centromeric alpha satellite DNA blocks of 5 and 5.3 megabases, respectively. These are by far the largest alpha satellite block lengths seen in all chromosome 13 and chromosome 21 centromeric sequences so far analyzed in this manner. The possibility that these supplementary alpha satellite sequences were created in single individuals by saltatory amplification steps is discussed in light of our own data and that published by others. It is proposed that deletion events and unequal cross-overs, which both occur in large satellite DNA arrays, contribute to the homogenization of size and sequence of the alpha satellite DNA on most chromosomes of humans.

Animals↗
PubMed1991

Construction and characterization of a partial library of yeast artificial chromosomes from human chromosome 21.

We report a protocol for cloning large DNA fragments in yeast artificial chromosomes (YAC). A partial library has been constructed from a somatic hybrid containing chromosome 21 as the single source of human DNA. About 4.0 Mb of human DNA was recovered in 17 YAC clones. Three clones were analyzed by in situ hybridization and mapped on chromosome 21. One clone hybridized with the chromosome 21 centromeric region and may provide new insight both on the molecular structure of centromere and on the localization of Alzheimer disease gene.

Base Sequence↗
PubMed1989

Chromosome size and number polymorphisms in Leishmania infantum suggest amplification/deletion and possible genetic exchange.

We have studied the molecular karyotypes of 21 strains and 14 clones of Leishmania infantum using pulsed field gel electrophoresis (PFGE). We detected a high degree of polymorphism within this species, with 'strain-specific' patterns for most isolates, even within a restricted endemic area. Variations relate to both the size of chromosomes (270-2600 kb) and their number, which can vary from 24 to 31 between closely related isolates. This polymorphism does not correlate with isoenzyme analysis. Small size variations between homologous chromosomes of different strains are suggestive of DNA amplification/deletion events. Strains are also shown to be multiclonal, with slight differences between most clones, but with a predominant clone concealing the others in PFGE analysis. The analysis of these data leads to the hypothesis of occasional genetic exchange by nuclear fusion in Leishmania, as recently shown in the related protozoan Trypanosoma brucei.

Animals↗
PubMed1989

Pulsed-field gel electrophoresis determination of the genome size of obligate intracellular bacteria belonging to the genera Chlamydia, Rickettsiella, and Porochlamydia.

The chromosome length of obligate intracellular procaryotes was determined by pulsed-field gel electrophoresis of intact or NotI- and SfiI-restricted genomes. Sizes averaged 2,100, 1,720, 1,550, 2,650, and 1,450 kilobases for Rickettsiella grylli, Rickettsiella melolonthae, Porochlamydia buthi, Porochlamydia chironomi, and Chlamydia psittaci and Chlamydia trachomatis, respectively. An SfiI restriction map of the R. melolonthae genome was derived.

Chlamydia↗
PubMed1988

DNA polymorphism in strains of the genus Brucella.

Preparations of DNA from 23 Brucella strains including 19 reference strains were compared by restriction endonuclease analysis. Pulsed-field gel electrophoresis resulted in optimal resolution of fragments generated by digestion with low-cleavage-frequency restriction enzymes such as XbaI. By this technique, five electrophoretypes were distinguished in five reference strains of the different species, i.e., B. abortus, B. melitensis, B. suis, B. canis, and B. ovis. Minor profile differences allowed us to discriminate between most biovars within a species. However, the differences in the DNA patterns of different field strains of biovar 2 of B. melitensis were not sufficient to serve as markers for epidemiological studies. From the XbaI fragments, we were able to estimate the size of the genomes of B. abortus 544T and B. melitensis 16 MT. This method revealed a relationship between DNA fingerprints, species, and pathovars which could shed light on problems concerning the classification and evolution of members of the genus Brucella.

Brucella↗
PubMed1987

Distributions of two recently inserted long interspersed elements of the L1 repetitive family at the Alb and beta h3 loci in wild mice populations.

The presence of the L1 sequences, L1Md4 next to the pseudogene beta h3 and I12 found in the twelfth intron of the albumin gene, in certain strains of laboratory mice but not of others has led to the suggestion that these sequences were recent insertions into the Mus mus domesticus genome. To be sure that they are really recent insertions and not relics of an ancestral chromosome, we investigated the presence or absence of these sequences in populations of wild mice belonging to the semispecies M. m. domesticus and M. m. musculus as well as in other species of the genus Mus and in related murids. The sequence I12 in the albumin gene was found in 34% of the chromosomes of the wild mice belonging to M. m. domesticus and to a lesser extent (6%) in M. m. musculus. Of 114 M. m. domesticus chromosomes, L1Md4 was found in only nine, seven of which came from the same locality. Its presence was associated with the haplotype Hbbp, which is relatively rare in European populations of M. musculus. Since there was no evidence for the presence of these two L1 sequences in more distantly related species, we conclude that they are recent insertions in the M. musculus genome.

Animals↗
PubMed1985

Comparative study of the L1 family in the genus Mus. Possible role of retroposition and conversion events in its concerted evolution.

The long interspersed repetitive family L1 was analysed in different species belonging to the genus Mus. It is shown to be highly conserved even in M.n. setulosus, which diverged from the other species around ten million years ago. The study of the linkage between diagnostic restriction sites in the various species and the sequence variations of different regions of the L1Md repeat shows that the L1 family undergoes concerted changes involving subsets of repeats. The rate at which this homogenization process occurs does not appear to be the same for all the subfamilies detected. The L1Md repeat in the twelfth intron of the serum albumin gene of Balb/c mice is shown to be a recent insertion. The role retroposon- and gene conversion-like events may play in the concerted evolution of the L1 family is discussed.

Animals↗