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Biomedical subjects

G Mercier

Publications and source records attributed to G Mercier.

At least 37 records · Page 2Linked to original sources
PubMed2001

North African genes in Iberia studied by Y-chromosome DNA haplotype V.

Haplotype V at the Y-chromosome specific DNA polymorphism (p49/TaqI) was reported in a study concerning 487 males originating from five different geographic locations in Iberia and North Africa. The highest frequency of haplotype V (68.9%) was previously observed in Berbers from Morocco, and it was previously established that this haplotype is a characteristic Berberian haplotype in North Africa. Percentages of haplotype V geographic distribution reveal a gradient of decreasing frequencies with latitude in Iberia: 40.8% in Andalusia, 36.2% in Portugal, 12.1% in Catalonia, and 11.3% in Basques; such a cline of decreasing haplotype V frequencies from the South to the North in Iberia clearly establishes a North African toward Iberian gene flow.

Adult↗
PubMed2001

Meta-analysis of GJB2 mutation 35delG frequencies in Europe.

Mutations in the gene encoding connexin-26 (specified GJB2) have been shown to be a major cause of nonsyndromic recessive deafness (NSRD), and a single mutation 35delG in the GJB2 gene accounts for the majority of cases of NSRD. This mutation was screened in France and in other European populations by a reliable PCR method. We present here a meta-analysis of the 35delG frequencies in 4123 random controls from 20 European countries, and show that the mutation is more frequent in the south of Europe than in the north; a north-south increasing cline of 35delG frequencies is established (r = -0.527).

Adult↗
PubMed2001

North African genes in Iberia studied by Y-chromosome DNA haplotype 5.

The frequency of haplotype 5 at the Y-chromosome-specific DNA polymorphism (p49/TaqI) was reported in a study of 487 males originating from five different geographic locations in Iberia and North Africa. The highest frequency of haplotype 5 (68.9%) was previously observed in Berbers from Morocco, and it has been established that this haplotype is a characteristic Berber haplotype in North Africa. The relative frequencies of haplotype 5 distribution show a geographical gradient of decreasing frequency according to latitude in Iberia: 40.8% in Andalusia, 36.2% in Portugal, 12.1% in Catalonia, and 11.3% in the Basque Country; such a cline of decreasing frequency of haplotype 5 from the south to the north in Iberia clearly establishes a gene flow from North Africa towards Iberia.

Adult↗
PubMed2000

CD40 ligand trimer and IL-12 enhance peripheral blood mononuclear cells and CD4+ T cell proliferation and production of IFN-gamma in response to p24 antigen in HIV-infected individuals: potential contribution of anergy to HIV-specific unresponsiveness.

It has been suggested that CD4+ T cell proliferative responses to HIV p24 Ag may be important in the control of HIV infection. However, these responses are minimal or absent in many HIV-infected individuals. Furthermore, while in vitro and in vivo responses to non-HIV recall Ags improve upon administration of highly active antiretroviral therapy, there does not appear to be a commensurate enhancement of HIV-specific immune responses. It is possible that CD4+ p24-specific T cells are deleted early in the course of infection. However, it is also possible that a discrete unresponsiveness, or anergy, contributes to the lack of proliferation to p24. To evaluate the possible contribution of unresponsiveness to the lack of CD4+ T cell proliferation to p24 in HIV-infected individuals, we attempted to overcome unresponsiveness. CD40 ligand trimer (CD40LT) and IL-12 significantly increased PBMC and CD4+ T cell proliferative responses to p24 Ag in HIV-infected, but not uninfected, individuals. No increase in proliferative response to CMV Ag was observed. CD40LT exerted its effect through B7-CD28-dependent and IL-12- and IL-15-independent mechanisms. Finally, the increase in proliferation with CD40LT and IL-12 was associated with an augmented production of IFN-gamma in most, but not all, individuals. These data suggest the possible contribution of HIV-specific unresponsiveness to the lack of CD4+ T cell proliferation to p24 Ag in HIV-infected individuals and that clonal deletion alone does not explain this phenomenon. They also indicate the potential for CD40LT and IL-12 as immune-based therapies for HIV infection.

Adjuvants, Immunologic↗
PubMed2000

Celtic origin of the C282Y mutation of hemochromatosis.

The main hereditary hemochromatosis mutation C282Y in the HFE gene was recently described, and the C282Y frequencies were reported for various European populations. The aim of this synthesis is to compile the Y allele frequencies of the C282Y mutation for 40 European populations. The most elevated values are observed in residual Celtic populations in Ireland, the United Kingdom, and France, in accordance with the hypothesis of Simon et al. (1980) concerning a Celtic origin of the hereditary hemochromatosis mutation.

Alleles↗
PubMed2000

TNF-alpha polymorphisms in multiple sclerosis: no association with -238 and -308 promoter alleles, but the microsatellite allele a11 is associated with the disease in French patients.

Tumor necrosis factor-alpha (TNF-alpha), a proinflammatory cytokine, is believed to play an important role in multiple sclerosis (MS) pathogenesis. The objective of this study was to determine whether sequence variation in the TNF-alpha gene is associated with MS. Bi-allelic polymorphisms in the TNF-alpha promoter region (TNF-alpha -238 and -308) and microsatellite TNF-alpha were previously reported. We investigated these polymorphisms in 74 French patients with MS, compared with 75 controls. No significant differences regarding the TNF-alpha -238 and -308 polymorphisms were observed between MS patients and controls. Allele frequency for the a11 allele is in very significant association (P<0.0001) with MS, due in part to the association of the a11 allele with the HLA-DRB1*15 allele in patients.

Alleles↗
PubMed2000

Evaluation of the potential promoting effect of 60 Hz magnetic fields on N-ethyl-N-nitrosourea induced neurogenic tumors in female F344 rats.

The present study investigated the possible effect of 60 Hz magnetic fields (MFs) as promoters of neurogenic tumors initiated transplacentally by a chemical carcinogen, N-ethyl-N-nitrosourea (ENU). In a preliminary study, 5 mg of ENU was shown to induce 30 to 40% neurogenic tumors in F344 rats offspring after 420 days of observation. In the present study, 400 female rats were divided into eight different groups (50 animals/group) and exposed in utero (on day 18 of gestation) to a single intravenous dose of either Saline (Group I), or ENU, 5 mg/kg (Group II to VIII). Dams in group II were given no further treatment while dams in Groups III to VII were exposed to 5 different intensities of MFs forty eight hours later. Animals in group III were sham exposed (<0.02 microT) while groups IV to VII were exposed to 2, 20, 200, and 2000 microT, respectively. Dams in Group VIII were injected intraperitoneally with 12-O-tetradecanoylphrobol-13-acetate (TPA; 10 micrograms/kg) from day 19 until delivery, and then their female offspring continued to be injected every 15 days, starting at day 14 after birth until sacrifice (positive controls). Accordingly, this study included three different types of controls: Internal controls (Groups II and III) and positive control (Group VIII). Body weight, mortality and clinical observations were evaluated in all groups of animals during in-life exposure. Necropsy was performed on all exposed and control animals that died, were found moribund or sacrificed at termination of the study. Histopathological evaluation was done for all brains, spinal cords, cranial nerves, major organs (lungs, liver, spleen, kidneys, pituitary, thyroid and adrenals) and all gross lesions observed during necropsy. All clinical observations and pathological evaluations were conducted under "blinded" conditions. The findings from this ENU/MFs promotion study clearly demonstrate that, under our defined experimental conditions, exposure to 60 Hz linear (single axis) sinusoidal, continuous wave MFs had no effect on the survival of female F344 rats or on the number of animals bearing neurogenic tumors. These results suggest that MFs have no promoting effect on neurogenic tumors in the female F344 rats exposed transplacentally to ENU.

Animals↗
PubMed2000

Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.

Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of muscles. To identify the chromosomal localization of the FOP gene, we conducted a genomewide linkage analysis using seven affected families. The FOP phenotype is linked to markers located in the 17q21-22 region (LOD score of 3.41 at the recombination fraction theta = 0). Crossover events localize the putative FOP gene within a 12cM interval, bordered proximally by D17S809 and distally by D17S1838. Noggin (NOG) gene, located in 17q22, is an excellent candidate gene for FOP.

Chromosome Mapping↗
PubMed1999

Decontamination of Fly Ash and Used Lime from Municipal Waste Incinerator Using Thiobacillus ferrooxidans.

/ The purification of incinerator gases produces large quantities of fly ash and used lime [a combination referred to as air pollution control residues (APCR)], both of which contain elevated levels of metals. This paper describes biological solubilization assays utilizing Thiobacillus ferrooxidans to leach metals from APCR to render them nonhazardous. The multistage solubilization process involves an alkaline aqueous phase that removes some Pb. In the second phase, the APCR are acidified to pH 4 with H(2)SO(4), then inoculated with a bacterial culture that has been acclimated in the presence of 2% Fe (FeCl(3)). Several rinses and decantings achieve removal of the leachable metals. The final step involves the addition of Ca(H(2)PO(4))(2) and an increase in the treatment pH prior to the final filtration. Viability of thiobacilli in APCR was poor. Despite this problem, the removal of Pb was 35.9%, 46.0%, and 68.7% (for APCR containing 1594, 3026, and 5038 mg Pb/kg, respectively), which demonstrates greater metal removal with increased APCR contamination. Zn removal varied from 68.2% (8273 mg Zn/kg APCR) to 79.5% (16,873 mg Zn/kg APCR), which was positively correlated to the level of residue contamination, whereas Cu was removed in the proportions of 26.9% (495 mg Cu/kg APCR) to 68.2% (465 mg Cu/kg APCR). Cadmium removal appeared to be independent of the level of Cd in the APCR; Cd was removed to the greatest degree, with a variation of 92.0% (129 mg Cd/kg APCR) to 94.7% (267 mg Cd/kg APCR). The treated APCR were tested using four different leachate tests. The APCR released 43 mg Pb/liter during contact with water, and 7.40 mg Cd/liter during TCLP [the toxicity characterization leaching procedure of the United States Environmental Protection Agency (US EPA)]. After biological treatment, the leachate from TCLP was within the acceptance criteria of the US EPA, if the pH of the APCR was increased to pH 5 after the biological treatment. In the case of the Transport Canada leaching test, a betterment of the process is required in order to satisfy the stringent regulatory level of 0.5 mg Cd/liter (0.68 and 0.57 mg/liter).KEY WORDS: Thiobacilli; Metals removal; Fly ash; Incinerator; Hazardous waste.http://link.springer-ny.com/link/service/journals/00267/bibs/24n4p517.html</HEA

Journal Article↗
PubMed1999

Variable number tandem repeat dopamine transporter gene polymorphism and Parkinson's disease: no association found.

We studied a variable number of tandem repeat polymorphisms in the dopamine transporter gene in search of an association with Parkinson's disease in a French population. Five alleles were detected, consisting of 7, 8, 9, 10 and 11 copies of the 40-base pair repeat sequence, of which the 10-copy allele was the most common. There was no significant difference between the patients and the control subjects in the distribution frequencies of the alleles or genotypes, or in ages at onset in patients between the main allelic classes.

Adult↗
PubMed1999

The vitamin D receptor FokI start codon polymorphism and bone mineral density in osteoporotic postmenopausal French women.

This study examined the association between bone mineral density (BMD) and a T/C polymorphism in the first of the two initiation codons in the vitamin D receptor (VDR) gene. The polymorphism was detected using the restriction enzyme FokI, the F allele indicating absence of the first codon and the f allele its presence. The FokI genotype was determined in 124 postmenopausal osteoporotic French women who were 45-90 years old. The distribution of FokI genotypes in the osteoporotics did not differ significantly from that found in a control group. There were no significant differences by FokI genotype groups in our total sample of osteoporotic women for age, years since menopause, height, weight, and BMD at lumbar spine and femoral neck. However, when only those patients under the age of 75 years are analysed (98 subjects), those with the ff genotype (10% of the population) had a significantly lower BMD at the femoral neck than FF and Ff subjects. This suggests that the ff genotype of the VDR gene correlates with decreased BMD at the femoral neck in French postmenopausal women.

Aged↗
PubMed1999

Failure of pregnancy after intracytoplasmic sperm injection with decapitated spermatozoa: case report.

The case of a couple with a history of long standing primary infertility is reported in which the man presented with a decapitated sperm defect. The woman had a normal history and presented with normal clinical characteristics. The couple underwent one unsuccessful conventional in-vitro fertilization (IVF). Subsequently, embryos were obtained and transferred after assisted fertilization attempts: in all, three subzonal inseminations and four intracytoplasmic sperm injections. A total of 49 mature oocytes was injected in both studies, 25 embryos obtained and 20 embryos transferred, three of them after freezing and thawing. Despite the good embryo morphology, implantation was unsuccessful and no pregnancy occurred. The failure of implantation may have resulted from an arrest in early embryonic development related to the sperm anomaly. One hypothesis is that transferred embryos may carry a chromosomal imbalance that prevents them from progressing to the blastocyst stage. Nevertheless, we cannot exclude the possibility that the woman is responsible for the implantation failure. Co-culture associated with a further attempt could provide information regarding the ability of embryos to progress to the blastocyst stage and implant.

Adult↗
PubMed1998

Distribution of the CCR5 gene 32-bp deletion in Europe.

The chemokine receptor CCR5 constitutes the major coreceptor for the macrophage-tropic strains of HIV-1. A mutant allele of the CCR5 gene called delta32 was shown to provide strong resistance to homozygotes against infection by HIV. The frequency of the delta32 allele was investigated in 2522 noninfected unrelated individuals from 16 different European populations. The delta32 allele was found in all populations studied, with a mean frequency of about 9.1%. A north-to-south gradient correlating latitude with delta32 allelic frequencies was found (r = 0.726), with highest allele frequencies in Denmark and Northern France, and the lowest allele frequencies in Corsica.

Alleles↗