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Biomedical subjects

G Lucotte

Publications and source records attributed to G Lucotte.

At least 37 records · Page 2Linked to original sources
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

Endogenous retroviruses and multiple sclerosis.

Endogenous retroviruses are normal constituents in vertebrate genomes. They have been associated with various diseases of presumed autoimmune etiology. However, conclusive evidence of their significance as susceptibility factors in these diseases is still lacking. In our laboratory we have focused attention upon endogenous retroviruses as candidate genes in multiple sclerosis. In this communication we describe general properties of endogenous retroviruses and we present observations from some of our studies.

Endogenous Retroviruses↗
PubMed2000

Y-chromosome DNA haplotypes in north African populations.

The frequency distribution of Y-chromosome haplotypes at DNA polymorphism p49/TaqI was studied in a sample of 505 North Africans from Mauritania, Morocco, Algeria, Tunisia, Libya, and Egypt. A particularly high frequency (55.0%) of Y-haplotype 5 (A2, C0, D0, F1, I1) was observed in these populations, with a relative predominance in those of Berber origin. Examination of the relative frequencies of other haplotypes in these populations, mainly haplotype 4 (the "African" haplotype), haplotype 15 (the "European" haplotype), and haplotypes 7 and 8 (the "Near-East" haplotypes), permit useful comparisons with neighboring peoples living in sub-Saharan Africa, Europe, and the Near East.

Adult↗
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

Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.

A polymerase chain reaction (PCR) assay was used to detect the two most common alpha-1-antitrypsin (A1AT) deficiency variants, S and Z. By co-amplification using primers for both the S and Z mutations, we were able to detect heterozygous and homozygous genotypes for both mutations and normal type M in a single duplex reaction. We validated our assay by comparison with phenotype studies obtained by the standard isoelectrofocusing technique.

Alleles↗
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

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

Familial hemiplegic migraine (HM) is an autosomal dominant migraine with aura. In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia (PCA). The CACNA1A gene encoding the alpha1A subunit of P/Q-type voltage-gated calcium channels is involved in 50% of unselected HM families and in all families with HM/PCA. Four CACNA1A missense mutations have been identified in HM: two in pure HM and two in HM/PCA. Different CACNA1A mutations have been identified in other autosomal dominant conditions: mutations leading to a truncated protein in episodic ataxia type 2 (EA2), small expansions of a CAG trinucleotide in spinocerebellar ataxia type 6 and also in three families with EA2 features, and, finally, a missense mutation in a single family suffering from episodic ataxia and severe progressive PCA. We screened 16 families and 3 nonfamilial case patients affected by HM/PCA for specific CACNA1A mutations and found nine families and one nonfamilial case with the same T666M mutation, one new mutation (D715E) in one family, and no CAG repeat expansion. Both T666M and D715E substitutions were absent in 12 probands belonging to pure HM families whose disease appears to be linked to CACNA1A. Finally, haplotyping with neighboring markers suggested that T666M arose through recurrent mutational events. These data could indicate that the PCA observed in 20% of HM families results from specific pathophysiologic mechanisms.

Calcium Channels↗
PubMed1999

Chromosome 19 locus apolipoprotein C-II association with multiple sclerosis.

We have used a PCR based method to analyze allelic frequencies in a (TG)n(AG)m microsatellite marker located in the first intron of the apolipoprotein C-II gene in French MS patients and controls. Samples were collected from 74 MS patients and from 102 controls. The distribution of microsatellite alleles differed between patients and controls (chi 2 = 7.82), showing a significant effect (P < 0.04) with MS due to the increased frequency of the allele 6 and a decrease frequency (P < 0.03) of allele I. Our study confirms that the apolipoprotein C-II region may influence susceptibility to MS.

Alleles↗
PubMed1999

Y-chromosome DNA haplotype 15 in Europe.

Haplotype 15 at 1 Y-chromosome-specific DNA polymorphism (p49/TaqI) was reported in a meta-analysis concerning 2418 males originating from 28 different geographic locations in Western Europe. The highest frequency of haplotype 15 (72.2%) was observed in French Basques, and it was previously deduced that this haplotype is the ancestral haplotype in Europe (Lucotte and Hazout 1996). Percentages of haplotype 15 geographic distribution show another high frequency in northwestern Europeans and a gradient of decreasing frequencies toward southeastern and peripheral countries. These results suggest that frequencies of haplotype 15 of the Y chromosome are useful to study the contribution of pre-Neolithic males to the present-day populations of Europe.

DNA, Mitochondrial↗