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E Bois

Publications and source records attributed to E Bois.

At least 19 recordsLinked to original sources
PubMed1995

Human genetic diversity (immunoglobulin GM allotypes), linguistic data, and migrations of Amerindian tribes.

GM haplotype frequencies were examined in 49 Amerindian tribes (from North, Central, and South America) to investigate the congruence of genetic variation with that observed in language and geography. We used two approaches: (1) the mobile site method, which allows a two-dimensional representation of genetic variation where the distances between reference points (i.e., the locations of the populations in the geographic map after displacements) are close to the genetic distances, and (2) a multivariate analysis (factorial correspondence analysis), which permits a visual interpretation of the geographic distribution of GM haplotypes on a map, completed by a cluster analysis. The results show a strong gradient from the Bering Strait to South America. The Eskimo and Na-Dene are genetically different from all other Amerindians, reflecting their more recent migrations. The orientation of most trajectories of the tribes from Central and South America can be interpreted as earlier migrations along the Pacific and Atlantic coasts. We conclude that geographic and linguistic factors played a part in the genetic diversity of Amerindian tribes.

American Indian or Alaska Native↗
PubMed1994

Immunoglobulin allotypes (GM and KM) in three Amerindian populations of French Guiana.

We have studied 506 Amerindians from three French Guiana groups: 194 Wayampi, living in Trois-Sauts, and 100 living in the Camopi area; 47 Emerillon also living in the Camopi area and 165 Wayana living on the Litani and Maroni rivers. All samples were tested for G1M (1,2,3,17), G3M (5,6,10,11,13,14,15,16,21,24,28) and KM(1) by the classical method of hemaglutination inhibition. The phenotype and haplotype distributions are presented and have been subjected to factorial analysis of correspondence. Two common GM haplotypes are GM1,17:21,28 and GM1,2,17;21,28 but with an important variation in frequency. A rare haplotype, GM1,17;21R,28, probably the result of a genetic anomaly, is frequent in the Emerillon (17%). These populations show no evidence of Negroid or Caucasian admixtures.

French Guiana↗
PubMed1994

[Evidences for genetic transmission of pulse arterial pressure].

Systolic (PS), diastolic (PD), and pulse (PULS) arterial blood pressure were examined in 151 French-West-Indies families. After adjustment for sex, age, Na/K urinary ratio, alcohol consumption, use of anti-hypertensive drug, the distributions of PS and PD were correctly fitted by two commingled normal distributions, one of them including 5% of the highest values of blood pressure which have to be compared to the high prevalence of hypertension in this population (10 to 20%). By performing segregation analyses under Lalouel et al.'s unified model we do not support any genetic transmission for PS and PD. On the contrary, large evidence for genetic transmission of PULS was found, involving one locus, two equally frequent alleles. However dominance cannot be correctly inferred. Accordingly, PULS appears to be of larger interest than PS and PD to study the genetic regulation of the arterial blood pressure.

Blood Pressure↗
PubMed1991

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.

Limb-girdle muscular dystrophy (LGMD) is inherited as a monogenic, autosomal recessive trait. A genetically homogeneous group of families from the Isle of La Réunion, comprising individuals at high risk for this disorder, was systematically analysed using a panel of 85 polymorphic markers spanning approximately 30% of the human genome. Linkage was detected between the LGMD gene and the marker D15S25, uncovered with the probe pTHH114 and restriction enzyme RsaI (lod score = 5.52 at a 0 = 0.0), localising this gene onto chromosome 15. Such a lod score corresponds to odds of 3.3 x 105 in favor of linkage versus absence of linkage. Additional families from other populations will need to be examined before the role of this newly identified locus can be understood.

Chromosome Mapping↗
PubMed1991

Cystic fibrosis in the population of Reunion Island.

The frequencies of the delta F 508 mutation and haplotypes linked to the cystic fibrosis (CF) gene and detected with DNA probes XV-2C and KM-19 have been studied in the population of Reunion Island, a French province located in the Indian Ocean. The deletion was present in 41.3% of CF chromosomes, whereas this proportion is about 70% in the French population. The delta F 508 mutation was associated with the haplotype B defined by the DNA markers XV-2C (allele 1) and KM-19 (allele 2) in 76.4% of CF chromosomes, while this proportion is over 90% in the French population. Founder effect, genetic drift and admixture can explain these differences.

Child↗
PubMed1990

Subtyping familial schizophrenia: reliability, concordance, and stability.

This report examines the reliability, concordance, and long-term stability of the subtypes of schizophrenia defined by four major diagnostic systems (DSM-III, DSM-III-R, ICD-10, and Tsuang-Winokur criteria) and rated both for the first hospitalization and for a best estimate diagnosis reflecting lifetime evolution of symptomatology. Schizophrenics studied belonged to two samples of multiply affected families, namely a sample selected in France and a sample of non-metropolitan French identified in the island of La Réunion. ICD-10 and DSM-III-R show opposite stringency regarding subtyping of schizophrenia, with DSM-III-R having a narrow and ICD-10 a broader definition of specific subtypes. Long-term stability of each subtype was fairly good, stability being the highest for hebephrenics and only intermediate for paranoid and undifferentiated subtypes. Comparison of two different cultural and geographical regions reveals an overall similarity of subtype frequencies in familial schizophrenia. The implications of the results for the choice of diagnostic procedures in family studies of schizophrenia are discussed.

Adolescent↗
PubMed1989

Genetic susceptibility to leprosy on a Caribbean Island: linkage analysis with five markers.

Our recent segregation analysis, carried out on 27 large pedigrees from a Caribbean island (Desirade), has shown the presence of recessive major gene(s) controlling susceptibility to leprosy per se and nonlepromatous leprosy, respectively. Linkage analysis was performed between each of these two detected genes and each of five markers typed in the Desirade population: HLA, ABO, Rhesus, Gm and Km. No positive significant lod score was observed. However, for leprosy per se close linkage was excluded with Rhesus and Gm (and also with ABO and HLA, considering a lower value for the frequency of the gene controlling susceptibility to leprosy per se). The highest lod score, although not significant, was obtained between the gene for nonlepromatous leprosy and ABO. Our overall results, joined with previous studies and experimental data, suggest that the gene controlling susceptibility to leprosy per se and that controlling susceptibility to nonlepromatous leprosy might be different, acting at successive stages of the immune response to infection with Mycobacterium leprae.

ABO Blood-Group System↗
PubMed1988

Studies on an isolated West Indies population. VI. Immunoglobulin (Gm and Km) allotypes.

A random sample of 221 individuals taken from 2000 inhabitants of a small Caribbean island of French origin were typed for Gm and Km allotypes. Gm haplotype frequencies were found to be significantly different from France. Km(1) frequency was found to be lower than in the French population. These differences suggest a small degree of admixture with the Black population, and genetic drift.

Black People↗
PubMed1987

Genetics of Alport's syndrome.

The pattern of inheritance of Alport's syndrome has been controversial for some time. Recent studies have clarified the mode of inheritance in this disease. Alport's syndrome is a heterogeneous disorder made up of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant and a rare autosomal recessive form. Clinical analysis shows that there are many distinct forms with or without nerve deafness, and with early or late occurrence of end-stage renal disease.

Humans↗
PubMed1987

Studies on an isolated West Indies population. III. Epidemiologic study of sensorineural hearing loss.

An epidemiologic study of hearing loss was undertaken on a small Caribbean island and revealed a high frequency of abnormal audiograms among the population of French origin. Since there is no clear-cut discrimination between hypoacusis and normal hearing, but rather a continuous spectrum, the degree of hearing loss was quantified by an audiometric index, using the results of audiograms performed on 70% of the inhabitants. No environmental factors could be identified, although the effect of such factors is highly suggested by several observations of deafness aggravated by, or appearing after, a small dose of ototoxic antibiotics, and also by a strong residual age effect after correction for physiological presbyacusis. Hearing loss was found to be sparsed all over the island. Familial aggregation was noticed for several severe cases.

Adolescent↗
PubMed1987

Studies on an isolated West Indies population (V): Genetic differentiation, evidence for founder effect and drift.

Red cell antigens [A,B,H,C,c,C(w),D,E,e,M,N,S,s,P1,K,FY(a),JK(a)] and 20 serum proteins or erythrocyte enzymes were tested in a white isolate of the French West Indies (the island of St-Barthélémy). The genetic differentiation mainly due to genetic drift and founder effect between France and this isolate and between the Leeward (parish of Gustavia) and Windward (parish of Lorient) areas within the island is discussed. Genetic admixture with black populations of African origin is very low.

ABO Blood-Group System↗
PubMed1986

Studies on an isolated West Indies population: IV. Genetic study of hearing loss.

Hearing troubles were found to be very frequent among inhabitants of French origin in a small Caribbean island. Segregation analysis of hearing loss was performed in 165 complete nuclear families and revealed that familial aggregation could be entirely explained by a single recessive gene with high frequency (0.40). Homozygous individuals for this gene would probably be more susceptible to ototoxic agents than other individuals. High frequency of this gene may be due to a founder effect.

Audiometry↗
PubMed1985

Genetic heterogeneity of Alport syndrome.

Forty-one families have been studied with stringent diagnostic criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected individual, and evolution to renal failure in at least one affected individual. The proportion of affected offsprings of affected females does not significantly differ from the ratio expected for a dominant trait. The descendance of affected males shows a lack of affected males. In four families, with parental consanguinity and nonaffected parents, the findings agree with an autosomal recessive inheritance. Study of quantitative traits such as death or renal death among brothers, uncle-nephew pairs and whole families shows evident intra-familial resemblances. We conclude that Alport syndrome seems to be a heterogeneous state composed of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant, and an autosomal recessive form.

Consanguinity↗
PubMed1985

[Congenital adrenal hyperplasia (21-OH) in France. Population genetics].

Incidence of congenital adrenal hyperplasia due to 21 hydroxylase deficiency was studied in France. Five hundred and twenty six patients born during the period 1963-1979 were found. Assuming complete ascertainment in females, the incidence of the disease is 0.43 X 10(-4) or 1: 23,044. The frequency of the carriers is 0.013 (1/76). The birth places of patients show an unequal geographic distribution. The mean inbreeding coefficient is 270 X 10(-5), a figure higher than the mean coefficient of France. The frequency of marriages between first cousins is slightly raised, 0.3%.

Adrenal Hyperplasia, Congenital↗
PubMed1984

Cluster of acute infantile spinal muscular atrophy (Werdnig-Hoffmann disease) in a limited area of Reunion Island.

A retrospective study of Werdnig-Hoffmann disease (spinal muscular atrophy type I) was undertaken on Reunion Island. Nineteen WH cases born between 1969 and 1980 were recorded belonging to thirteen sibships of the European population of the island. Genealogical analysis, going back to the XVIIth century (1642), showed a relationship among the 13 families, which were derived from a common ancestral pair. A founder effect is the most probable explanation for the concentration of Werdnig-Hoffmann disease in the area.

Adolescent↗
PubMed1984

[Malformation uropathies and multiple malformation syndromes].

The authors, from their experience emphasize the associated malformations' frequency in major congenital urinary tract malformations (26,9%). It is essential to recognize in these multiple defects some certified syndromes - inherited or not. The most associations are still unknown, nevertheless the genetic counselling require an accurate diagnosis.

Abnormalities, Multiple↗
PubMed1982

Alport's syndrome: experience at Hôpital Necker.

We review the characteristic morphologic features identifiable by electron microscopy that have been described in patients presenting with Alport's syndrome. They are diffuse thickening and splitting of the glomerular basement membrane (GBM), which are either isolated or associated with thinning. In occasional cases, only diffuse thinning can be seen. Our study of 100 families followed in Necker's hospital, of which 60 patients have had electron microscopic examination of their renal parenchyma, demonstrates that these GBM changes are highly suggestive of Alport's syndrome. All the patients included in the study fulfilled the following clinical criteria: familial incidence, nerve deafness in the propositus or in another member of the family, renal disease with progression to renal failure in the proband or in another member of the kindred. Although a failure in the proband or in another member of the kindred. Although a normal GBM was found in five patients, the GBM changes should be one of the criteria for the definition of the syndrome. Results dealing with a few other problems raised by this syndrome are reported. They concern the antigenicity and the biochemical composition of the GBM, the incidence of macular and perimacular changes, and the genetic transmission of the disease. It is concluded that Alport's syndrome is genetically heterogeneous and that the GBM ultrastructural changes are observed in most patients whatever the type of genetic transmission.

Adolescent↗