Associations with 5 CFTR Mutations in »Grande Brière«, an Isolate Located in Southern Brittany

The variability at three microsatellites in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) locus has been studied for frequent mutations encountered in an isolated population of »Grande Brière«, a small region located in Southern Brittany. Fluorescent multiplex PCR of these microsatellites were assayed in 16 Cystic Fibrosis (CF) families carrying 5 different mutations. The four most frequent haplotypes on df508 chromosomes were the same as those found in Northern France and Europe but the distribution of these haplotypes provides new enlightenment on the population origin of this insular community

Beta-decay branching ratios of 62Ga

Beta-decay branching ratios of 62Ga have been measured at the IGISOL facility of the Accelerator Laboratory of the University of Jyvaskyla. 62Ga is one of the heavier Tz = 0, 0+ -> 0+ beta-emitting nuclides used to determine the vector coupling constant of the weak interaction and the Vud quark-mixing matrix element. For part of the experimental studies presented here, the JYFLTRAP facility has been employed to prepare isotopically pure beams of 62Ga. The branching ratio obtained, BR= 99.893(24)%, for the super-allowed branch is in agreement with previous measurements and allows to determine the ft value and the universal Ft value for the super-allowed beta decay of 62Ga

Anthropogenetical Analysis of Abnormal Human -globin Gene Cluster Arrangement on Chromosome 16*

An earlier study of human globin gene polymorphism in two Adriatic islands of Olib and Silba showed an abnormal arrangement of _ -globin genes in two different individuals. The next step was to determine the degree of the kinship relationship between the two probands, one with a deleted and another with triplicated _ -globin gene on the island Silba, and to determine the stability of this disorder through generations. We reviewed the parish registers (Status Animarum) of the island of Silba, dating from the year 1527, and constructed family trees for the two probands. Restriction endonuclease mapping was performed to study the arrangement of the _ -globin genes in the offspring of our probands. A total of 183 ancestors completed the two family trees. The kinship relationship between them was established in the 5th, 6th, and 7th generation. The analysis of _ -globin genes in the offspring of our probands showed the triplicated _ -globin genes in two persons. We also found _ -globin gene triplication in other three relatives. We did not find any deleted _ -globin genes. We determined the kinship relationship between the two probands, one with deleted and the other with triplicated _ -globin genes. This finding enabled us to determine the stability of this gene disarrangement through generations. It also showed new possibilities in anthropogenetic research, by combining the analyses of parish registers with those of modern genetic methods, such as restriction endonuclease mapping

Anthropometric Variation and Population Structure of the Island of Pag, Croatia

Anthropometric variation in the population of the island of Pag (eastern Adriatic, Croatia) was investigated by using data on 14 head and 24 body dimensions. The data were related to past and present migration patterns, geography, and linguistics. The analyses revealed heterogeneity among three population groups inhabiting geographically defined regions of the island and heterogeneity among the village populations. The congruence between anthropometric variation, migration history, geographic distances, and current linguistic features says much for the strength of the isolating factors on this ecologically uniform island, which have effected the genetic structure of the population

Anthropologie et biologie médicale, application au goitre et au crétinisme endémiques, pays Bwa (Mali)

ANTHROPOLOGY AND MEDICAL BIOLOGY, APPLICATION TO THE ENDEMIC GOITER AND ENDEMIC CRETINISM, BWA REGION (MALI) Summary. — The study is concerned with the dispersion, the importance and the causes of the endemic goiter and cretinism in a village of Mali. The methods which are used there, relied on a very accurate definition of the population, on the precision of the diagnosis, on the measuring out of the serum, of the urine and of the food, on blood tests, bringing to the fore all the genetic markers known. The prevalence of the goiter is of 71,21 % for the men and of 89,09 % for the women. Moreover the hormones TSH and T4 playing a very discriminant role between goitrous and non goitrous. The genetic factor appears here very probable. As for the cretinism its prevalence is certainly of 1%.Résumé. — L'étude porte sur la dispersion, l'importance et les causes du goitre et du crétinisme endémiques dans un village du Mali. Les méthodes utilisées se sont appuyées sur une définition très précise de la population, sur la rigueur des diagnostics, sur les dosages sériques, urinaires et alimentaires, sur les analyses sanguines mettant en évidence l'ensemble des marqueurs génétiques connus. La prévalence du goitre est de 71,21 % chez les hommes et de 89,09 % chez les femmes, les hormones TSH et T4 jouant par ailleurs un rôle très discriminant entre goitreux et non goitreux, le facteur génétique apparaît ici très probable. Quant au crétinisme, sa prévalence est vraisemblablement de l'ordre de 1 %.Bellis G., Chaventré André, Roux F., Bisset J.-P., Chastin I., Rhaly A. Ag, Margotat A., Malthiery Y. Anthropologie et biologie médicale, application au goitre et au crétinisme endémiques, pays Bwa (Mali). In: Bulletins et Mémoires de la Société d'anthropologie de Paris, XIV° Série. Tome 5 fascicule 1-2, 1988. pp. 47-60

The prevalence of goitre and cretinism in a population of the west Ivory Coast

Iodine deficiency is a major public health problem in developing countries. The main areas where goitre is prevalent have been identified, but the different degrees of severity and the populations affected have not. Most countries are now attempting to obtain reliable and more extensive data. A pilot study was carried out in the Ivory Coast in order to improve epidemiological knowledge of iodine deficiency and collect the information required to set up an elimination programme. The aim of this study was to assess the prevalence of goitre and cretinism and to measure the main biochemical indicators of thyroid function (T3, T4 and TSH). The study involved 1433 people identified from a census. The prevalence of goitre was 50.3%. There was a significant difference between the examined ethnic groups: 52.7% of the Yacouba and 28.6% of the non-Yacouba had goitre. The most affected age group was 15-45 year. The predominance of women demonstrated the susceptibility of women at child-bearing age to develop the condition. The prevalence of cretinism was approximately 1.5%. Through the assessment carried out using a grid of clinical indicators, it was possible to identify 10 cases of laboratory proven myxedematous cretinism due to hypothyroidism. The concentration of iodine in foodstuffs was below the limit of detection (< 7.5 micrograms/kg) and iodine could not be detected in the water (< 1 microgram.l) The biological profile of the population was affected to a very limited extent, with a mean value (+/- standard deviation) for TSH of 1.93 (+/- 1.56) mIU/l (0.1-4.0) and a free T4 value of 10 (+/- 3.46) pmol/l (8.2-20). These initial results confirm the high prevalence of endemic goitre and the low iodine content of the soil, water and food in the investigated region. The study will be complemented by a nutritional investigation to improve the understanding of iodine balance, after which an appropriate action plan will be proposed

AWorldwide Analysis of AG Molecular Diversity Inferred from Serology

Ten population samples from different geographic origins were tested serologically for the AG polymorphism of human b-lipoproteins. Their haplotype frequencies were used with previously published data to perform a wide analysis of AG genetic differentiations throughout the world. Coancestry coefficients were computed from weighted FSTs among populations by using a matrix of molecular distances among AG haplotypes, which is here determined on the basis of DNA studies. Coancestry coefficients derived from unweighted FSTs and more classical Prevosti distances were computed on the same data and used for a comparison. In all cases a highly significant correlation was found between genetics and geography on a worldwide scale, while the significance of the correlation with linguistics differed. A test of significance of the pairwise FSTs among populations also gave different results depending on whether the molecular distance matrix among AG haplotypes was included. Globally, this study shows that in spite of being highly significantly correlated to each other, different genetic distance measures can lead to different interpretations of the same data set. Moreover, the elucidation of the molecular models related to the presently known serological polymorphisms may represent an additional tool for analyzing such polymorphisms in human population genetics studies

A worldwide analysis of AG molecular diversity inferred from serology

Ten population samples from different geographic origins were tested serologically for the AG polymorphism of human beta-lipoproteins. Their haplotype frequencies were used with previously published data to perform a wide analysis of AG genetic differentiations throughout the world. Coancestry coefficients were computed from weighted F(ST)s among populations by using a matrix of molecular distances among AG haplotypes, which is here determined on the basis of DNA studies. Coancestry coefficients derived from unweighted F(ST)s and more classical Prevosti distances were computed on the same data and used for a comparison. In all cases a highly significant correlation was found between genetics and geography on a worldwide scale, while the significance of the correlation with linguistics differed. A test of significance of the pairwise F(ST)s among populations also gave different results depending on whether the molecular distance matrix among AG haplotypes was included. Globally, this study shows that in spite of being highly significantly correlated to each other, different genetic distance measures can lead to different interpretations of the same data set. Moreover, the elucidation of the molecular models related to the presently known serological polymorphisms may represent an additional tool for analyzing such polymorphisms in human population genetics studies