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Biomedical subjects

M G Mattei

Publications and source records attributed to M G Mattei.

At least 361 records · Page 20Linked to original sources
PubMed1986

Localization of the human NCAM gene to band q23 of chromosome 11: the third gene coding for a cell interaction molecule mapped to the distal portion of the long arm of chromosome 11.

cDNA clones containing sequences coding for the murine neural cell adhesion molecule (N-CAM) were used in Southern hybridizations on human genomic DNA and demonstrated approximately 90% homology between human and murine NCAM genes. In situ hybridization with one of these clones was performed on human metaphase chromosomes and allowed the localization of the human NCAM gene to band q23 of chromosome 11. The genes for two other cell surface molecules believed to be involved in cell-cell interactions, Thy-1 and the delta chain of the T3-T cell receptor complex, have recently been localized to the same region of chromosome 11 in man. Moreover, this region of the human chromosome 11 appears to be syntenic to a region of murine chromosome 9 that also contains the staggerer locus: staggerer mice show abnormal neurological features which may be related to abnormalities in the conversion of the embryonic to the adult forms of the N-CAM molecule.

Animals↗
PubMed1986

Further evidence for the dispersion of the human fibrillar collagen genes.

Recombinant DNA probes specific for the human pro alpha 1(II) and pro alpha 1(III) collagen chains have been used for the chromosomal localization of the two genes. Restriction endonuclease analysis of DNA from human-rodent hybrid cell lines in conjunction with in situ hybridization of human metaphasic chromosomes have shown that the gene coding for the pro alpha 1 chain of type II collagen (COL2A1) is located on chromosome 12 in the segment 12q131----12q132. Likewise, the gene coding for the pro alpha 1 chain of type III collagen (COL3A1) was assigned to the segment 2q31----2q323 of chromosome 2.

Animals↗
PubMed1985

Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

One of the commonest forms of X-linked mental retardation is associated with a fragile site at Xq27 on the human X chromosome which can be visualised structurally after culturing cells in folate-deficient media. Unusually, the mutation can be transmitted through a phenotypically normal male. There is already some evidence that the gene loci for G6PD and factor IX are linked to this mental retardation locus. We have followed the inheritance of a DNA sequence 52A, in fragile site families that are also informative for factor IX. We demonstrate that these probes are localised at Xq27/Xq28-Xqter, close physically to the fragile site. We did not find close linkage between 52A, factor IX, and the fragile site in the families studied despite 52A and factor IX showing linkage in normal families. We discuss the importance of these data for the genetic mapping of this region of the human X chromosome and the implication for the use of these DNA probes for clinical diagnosis.

Animals↗
PubMed1985

Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site.

The coagulation factor IX gene and two other polymorphic loci corresponding to DNA probes 52 A and St 14 have been previously localized in the q27 to qter region of the human X chromosome. In order to study their localization with respect to the fragile site at Xq27-28, we have hybridized the three DNA probes to metaphase chromosomes of a boy with fragile X mental retardation. We show that probe 52 A is located in the proximal part of the Xq27 band, while the coagulation factor IX gene is on the distal part of this band, but proximal to the fragile site. The very polymorphic St 14 probe is located in the distal part of the Xq28 band, on the other side of the fragile site.

Chromosome Banding↗
PubMed1985

Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7.

We report here four cases of unbalanced chromosomal rearrangements involving partial monosomies and trisomies of chromosome 7. The quantitative expression of diaphorase 2 (DIA-2), beta-glucuronidase (GUS-beta) and argino-succinate-lyase (ASL) were measured in these patients and compared with controls. The results suggest that the DIA-2 locus is in the band 7p221----q21, the GUS-beta locus in the band 7p22----q21 and the ASL locus in the band 7p221----q22.

Argininosuccinate Lyase↗
PubMed1985

The structural gene for aldolase B (ALDB) maps to 9q13----32.

We used a cloned cDNA probe for the B subunit of human aldolase (ALDB) and Southern blotting techniques to analyse DNA from a series of rodent X human somatic cell hybrids for the presence of specific ALDB-related sequences. Our results provide evidence for the assignment of the gene for ALDB to chromosome 9. Moreover, by direct gene dosage determination in two patients with chromosome 9 unbalanced rearrangements and by in situ hybridization we refined the regional chromosomal assignment to 9q13----q32 and most probably to 9q21.3----9q22.2.

Animals↗
PubMed1985

Immunoreactive SOD-1 in amniotic fluid, amniotic cells and fibroblasts from trisomy 21 fetus.

Copper superoxide dismutase (Cu-SOD or SOD-1) was measured by radioimmunoassay (RIA) in amniotic cells and fluid as well as in fetal trisomy 21 fibroblasts. The significant increase of the SOD-1 activity observed in amniotic cells and fetal trisomy 21 fibroblasts demonstrates the early physiopathogenic expression of the supernumerary chromosome 21 in affected patients.

Adult↗
PubMed1985

[Small supernumerary chromosomes].

We report 23 cases of small supernumerary chromosome examined at the Medical Genetics Center of Marseille. Genetic counselling is depending on the origin of the additional chromosomal material. Among the different cytogenetic technics which are useful in such an identification in situ hybridisation is a new technic very helpful in some cases, especially iso p18.

Chromosome Aberrations↗
PubMed1984

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

The behaviour of chromosome 15 is very different from that of the other acrocentric chromosomes. The cytogenetic characteristics of rearrangements associated with Prader-Willi syndrome (PWS) are analyzed as similar rearrangements irrespective of the associated phenotype (reciprocal translocations of chromosome 15, small bisatellited additional chromosomes, Robertsonian translocations, interstitial deletions, pericentric inversions). This study suggests that: (1) The proximal ( 15q ) region and PWS seem to be indissociable ; (2) chromosome 15 has an indisputable cytogenetic originality which could be related to its histochemical properties. Chromosome 15 constitutive heterochromatin usually contains much 5-methylcytosine-rich DNA and a large amount of each of the four satellite DNAs. Furthermore the existence in the proximal ( 15q ) region of one or several palindromic sequences could be postulated to explain the great lability of this region of chromosome 15.

Chromosome Aberrations↗
PubMed1984

Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.

Three patients with partial monosomy of the long arm of chromosome 21 are reported. Each one presents several features of a 21q--syndrome but in cases 2 and 3, other chromosomes are involved, contributing to the variability of the clinical picture. Synthesis of clinical, enzymatic and cytogenetic findings confirms that the superoxide dismutase A (SOD-A) locus is in sub-band 21q22-1. However, it is not possible to localize precisely the segments responsible for the different clinical features of 21q--syndrome.

Adult↗
PubMed1984

[Mental retardation linked to fragility of chromosome X: current knowledge].

The association of the fragile X chromosome with X-linked mental retardation is now well established. The main clinical features are mental retardation, typical facial dysmorphism and macroorchidism. Cytogenetically there is a fragile site in band Xq27-28 which can be demonstrated using specific techniques. The genetic studies are compatible with a X-linked dominant inheritance with an incomplete penetrance. A preliminary estimation of an overall frequency of 1: 2000 males for the fra(X)(q) condition is suggested.

Bromodeoxyuridine↗
PubMed1984

[Reciprocal translocation at the origin of a Robertsonian translocation 15;22 by the loss of a metacentric chromosome. Genetic counseling].

One of the children of a t(15;22) (q111;p11) woman has lost the minute metacentric der(15) without any clinical consequence, indicating the inocuity of the 15pter----q111 and 22pter----p11 monosomies. The segregation mechanism of this monosomy and, from this family, the relation between reciprocal translocations and Robertsonian translocations are discussed. Another subject with r(22) in the same family questions on an hypothetic common origin.

Chromosome Banding↗
PubMed1983

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.

We report a previously undescribed case of a de novo balanced translocation t(5;13)(q11;p11) and Franceschetti syndrome in a 3-year-old girl. The hypothesis that this unusual association might not be coincidental but rather due to position effect is proposed. Moreover the significant decrease of hexosaminidase B activity suggests the localization of this gene on the 5q11 band.

Acetylglucosaminidase↗
PubMed1983

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases.

A chromosome 15 anomaly was observed in 12 of 20 patients, 17 of whom were clinically suspected of having Prader-Willi syndrome (PWS). The clinical features of eight cases with 15q11-12 deletion were very similar to those originally described in PWS. On the other hand, the group of normal karyotype patients is heterogeneous, and their features do not strictly correspond to the clinical definition of PWS. However, the hypothesis that PWS is associated with deletion of 15q11-12 can neither explain the apparently balanced translocations of chromosome 15 nor account for the small supernumerary metacentric chromosomes corresponding to an isochromosome 15 for band 15q11 observed in some cases.

Adolescent↗