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Copyright of Revue de Synthèse is the property of Brill Academic Publishers and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Human Sciences Journal / Revue des Sciences Humaines is the property of Universite des Freres Mentouri Constantine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of African Journal of Reproductive Health is the property of Women's Health & Action Research Centre and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of African Journal of Reproductive Health is the property of Women's Health & Action Research Centre and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of African Journal of Reproductive Health is the property of Women's Health & Action Research Centre and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Technological advances now make it possible to envisage preconception screening for the most common incurable genetic diseases in the general population. There are currently many obstacles to its implementation. The aim of this point of view is to enable the reader to form his or her own opinion. To do this, a reminder of the fundamental bases of genetics will be given to help understand the usefulness or otherwise of this screening. Then, a history of the practices implemented in France and in the world on genetic screening will be made, adding a comparison with neonatal screening. In the last part, a review will be made of the studies carried out following the use of preconceptional screening and on the therapeutic and genetic advances of the next few years. [ABSTRACT FROM AUTHOR]

Introduction: inbreeding is recognized in many studies as an important factor impacting health across several generations. It poses a real public health problem. The purpose of this study is to determine the effects of inbreeding on non-communicable diseases, in particular susceptibility to a range of chronic and complex diseases in the Moroccan population. Methods: we conducted an analytical cross-sectional study based on a survey conducted in two Moroccan communes: BNI hlal and Foum jemaa. The sample studied consisted of 222 individuals. Odds ratios (ORs) with 95% confidence intervals were calculated for the probability of having the disease by the inbreeding status. The chi-square test was used to assess the relationship between the categorical variables. A p. value < 0.05 was considered significant. Results: a frequency of consanguineous marriages of 43.2% was recorded among respondents vs 41% among their parents. We found that inbreeding between parents increased the chances of consanguineous marriages among offsprings (p = 0.01). The generation of consanguineous parents had a higher risk of developing non-communicable diseases such as cancers, diabetes, cardiovascular diseases, chronic respiratory diseases and chronic renal failure. Conclusion: this study shows an increase in the prevalence of non-communicable diseases in the consanguineous population. This can confirm the influence of genetic factors upon the entire spectrum of the disease and not just inmendelian disorders. [ABSTRACT FROM AUTHOR]

Copyright of Antropo is the property of Antropo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Antropo is the property of Antropo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Antropo is the property of Antropo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

INTRODUCTION: Une étude transversale et descriptive qui vise l'identification des facteurs de risques associés au déficit en G6PD, sa fréquence et sa distribution géographique à Nouakchott dans l'objectif de fournir des informations utiles pour le contrôler. Comme cette maladie n'a jamais été étudiée auparavant en Mauritanie, nous avons cherché à définir le profil épidémiologique et la charge de morbidité du déficit en G6PD chez une population de nouveaux nés dans deux structures de santé de la ville de Nouakchott. METHODES: Cette étude a été conduite dans deux hôpitaux de Nouakchott, le Centre Hospitalier Mère-Enfant et le Centre de Santé de Sebkha entre (Août ,Octobre, 2015). Elle a concerné un échantillon de 523 nouveau-nés de sexes différents. Le dépistage a été fait à laide de BinaxNow G6PD Test, suivi d'une confirmation quantitative pour les cas positifs. L,analyse statistique a été réalisée par SPSS20. RESULTATS: Le déficit en G6PD était plus élevé chez les nouveau-nés de sexe masculin (15% vs 7% P = 0,007) et particulièrement chez les enfants d'ethnie noire (15% vs 8 % P = 0,001). La prévalence du phénotype déficient en G6PD dans la population étudiée est 11,09% (58/523). CONCLUSION: La présente étude est, à notre connaissance, la première de son genre sur le déficit en G6PD chez la population mauritanienne. Elle fournit des informations importantes sur le caractère épidémiologique du déficit en G6PD dans la région de Nouakchott. Elle relève une variabilité dans l'apparition de G6PD au niveau des groupes ethniques.

Copyright of Canadian Journal of Animal Science is the property of Canadian Science Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Antropo is the property of Antropo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: We conducted a cross-sectional descriptive study aiming to identify risk factors associated with G6PD deficiency, its frequency and geographic distribution in Nouakchott, in order to provide useful informations to monitor it. As this disease has never previously been studied in Mauritania, we tried to define the epidemiological profile and the burden of morbidity related to G6PD deficiency in a newborn population in two health structures in the city of Nouakchott. Methods: This study was conducted in two hospitals in Nouakchott, at the Maternity and Infant Hospital and at the Health Center in Sebkha between August and October 2015. A sampling of 523 newborns having different sexes was enrolled in the study. Screening was based on BinaxNow G6PD test, followed by quantitative confirmation in positive patients. Statistical analysis was performed using SPSS20. Results: G6PD deficiency was higher in male newborns (15% vs 7% p = 0.007) and, in particular, in black children (15% vs 8% p = 0.001). The prevalence of G6PD deficiency in the study population was 11.09% (58/523). Conclusion: To our knowledge, this is the first study on G6PD deficiency in the Mauritanian population. It provides important informations on the epidemiological features of G6PD deficiency in the region of Nouakchott. A degree of variability exists in the occurrence of G6PD deficiency in the ethnic groups. [ABSTRACT FROM AUTHOR]

Le syndrome de Usher est défini par l'association d''une surdité de perception congénitale de sévérité variable évolutive ou non et d'une rétinopathie pigmentaire progressivement cécitante. La Neurofibromatose de Von Recklinghausen ou Neurofibromatose de type I est la principale forme clinique des neurofibromatoses avec environ 90% des cas. Ces deux maladies sont d'origine génétique avec des prévalences très basses. La probabilité pour qu'un seul et même individu souffre à la fois de ces maladies est exceptionnelle. Comme toutes les maladies génétiques, la consanguinité augmente de façon assez sensible la probabilité de leur apparition. Le mariage consanguin est encore largement répondu au Maghreb et dans certaines régions d'Afrique de Cette observation rapporte un cas exceptionnel de cette association chez un homme de 40 ans originaire de la Mauritanie né d'une union consanguine.

Monte Carlo simulations were carried out in order to assess the impact of multiple ovulation and embryo transfer (MOET) on the dairy performance of Somba cattle. Adult MOET-nucleus schemes were simulated over 20 generations of selection, assuming a fixed test capacity of 512 milk recorded females, a success rate of transfer of 70%, a survival rate of 70% and various sibship sizes (nD = 4, 8, 16). Selection criteria were the BLUP estimates of the true additive genetic values of candidates using the reduced animal model. For different combinations of number of donors (D = 64, 128, 256) and number of sires (S = 4, 8, 16) to be selected, the simulated genetic response in milk yield ranged from 0.088 to 0.127 phenotypic standard deviation units (SU) per year. These figures corresponded to a genetic progress of 2.2 to 3.2% of the population mean per year (coefficient of variation in milk yield is 25% for Somba cattle). For all alternatives with regard to population structure, the simulated rate of inbreeding ranged from 1.32 to 2.93% per year, while the expected one ranged from 0.83 to 3.32%. Compared to the rate of inbreeding commonly admitted in a conventional progeny-testing scheme (0.1 to 0.2% per year), the rates of inbreeding expected from the simulated adult MOET schemes were quite high and could be a cause of concern. Strategies to reduce inbreeding in short or medium terms were examined.

Le syndrome KID est une affection génétique rare associant kératite, ichtyose et surdité. Nous rapportons un cas dont la surdité s'est compliquée de mutisme chez un enfant togolais issu d'un mariage consanguin.Il s'agissait d'une fillette de 9 ans admise en dermatologie pour une peau sèche et une kératodermie palmoplantaire évoluant depuis l'enfance, une surdité sévère et un mutisme total évoluant depuis la naissance. Il n'y avait pas d'histoire familiale connue de syndrome KID. Les parents de cet enfant sont des cousins germains. A l'examen, on notait une kératodermie palmoplantaire typique en cuir grossier, une peau sèche ichtyosiforme finement squameuse avec un aspect pachydermique aux genoux et un aspect arlequin aux jambes. L'examen ophtalmologique avait noté une blépharo-conjonctivite, une xérophtalmie, une photophobie et une absence de sourcils. L'examen ORL avait objectivé une hypotrophie des pavillons des oreilles, une surdité sévère et un mutisme total. La particularité de cette observation réside dans la sévérité de l'atteinte auditive qui s'est compliquée de mutisme. Notre enfant étant née de parents consanguins sains, sans histoire familiale de KID, nous pensons que le mode de transmission est probablement sporadique. Une étude moléculaire du cas index et de ses parents, non réalisée à cause de notre plateau technique limité aurait pu le confirmer.

Copyright of Canadian Journal of Animal Science is the property of Canadian Science Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Antropo is the property of Antropo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Le syndrome KID est une affection génétique rare associant kératite, ichtyose et surdité. Nous rapportons un cas dont la surdité s'est compliquée de mutisme chez un enfant togolais issu d'un mariage consanguin. Ils'agissait d'une fillette de 9 ans admise en dermatologie pour une peau sèche et une kératodermie palmoplantaire évoluant depuis l'enfance, une surdité sévère et un mutisme total évoluant depuis la naissance. Il n'y avait pas d'histoire familiale connue de syndrome KID. Les parents de cet enfant sont des cousins germains. A l'examen, on notait une kératodermie palmoplantaire typique en cuir grossier, une peau sèche ichtyosiforme finement squameuse avec un aspect pachydermique aux genoux et un aspect arlequin aux jambes. L'examen ophtalmologique avait noté une blépharo-conjonctivite, une xérophtalmie, une photophobie et une absence de sourcils. L'examen ORL avait objectivé une hypotrophie des pavillons des oreilles, une surdité sévère et un mutisme total. La particularité de cette observation réside dans la sévérité de l'atteinte auditive qui s'est compliquée de mutisme. Notre enfant étant née de parents consanguins sains, sans histoire familiale de KID, nous pensons que le mode de transmission est probablement sporadique. Une étude moléculaire du cas index et de ses parents, non réalisée à cause de notre plateau technique limité aurait pu le confirmer. [ABSTRACT FROM AUTHOR]

Using a well-adapted Drosophila subobscura population (Avala, Serbia), a drastic experiment of inbreeding was carried out to assess whether the expected level of homozygosity could be reached or if other evolutionary forces affected the process. In general, no significant changes of inversion (or arrangement) frequencies were detected after 12 brother-sister mating generations. Furthermore, no significant differences were obtained between observed and expected (under the inbreeding model) karyotypic frequencies. Thus, these results seemed to indicate that the main evolutionary factor in the experiment was inbreeding. However, in the G12 generation, complete chromosomal fixation was reached only in two out of the eight final inbred lines. In these lines, the chromosomal compositions were difficult to interpret, but they could be likely a consequence of adaptation to particular laboratory conditions (constant 18 °C, food, light period, etc.). Finally, in a second experiment, the inbred lines presented higher fertility at 18 °C than at 13 °C. Also, there was a significant line effect on fertility: inbred line number 6 (A1, J1, U1+2 U1+2+6 E8, and O3+4+7) presented the highest values, which maybe the result of an adaptation to laboratory conditions. Thus, the results obtained in our experiments reflect the adaptive potential of D. subobscura inversions. [ABSTRACT FROM AUTHOR]

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Partant de l’identification des premiers usages du mot «linhagem» et de ses équivalents en langues ibériques néo-latines au long du XIIIe siècle, on repère dans des textes littéraires et documentaires de typologies diverses deux spécialisations sémantiques de ce terme. D’un côté, «linhagem» désigne l’ascendance-descendance d’un individu précis, dans une tradition qui semble proche de celle du Liber Regum; de l’autre côté, le même mot désigne un groupe synchronique de parents consanguins habitant dans la même région. La coexistence des deux acceptions dans un même contexte discursif est rare.

Copyright of Antropo is the property of Antropo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Résumé: La consanguinité est une relation entre deux personnes qui partagent un ancêtre commun. Elle est habituellement définie comme le résultat d’une reproduction sexuée entre deux individus apparentés. En d’autres termes, les mariages consanguins se réfèrent à des unions contractées entre des individus biologiquement liés. Ces unions sont encore fréquentes et constituent des pratiques très répandues dans certaines régions du monde. La région la plus concernée s’étend de la rive sud de la mer méditerranée à travers le Moyen-Orient, la Mésopotamie, le Golfe persique et l’Inde subcontinentale jusqu’au sud-est de l’Asie. Sur la base des données disponibles, il apparaît que les couples apparentés au second degré ou plus et leur progéniture représentent 10,4 % de la population mondiale actuelle. Leurs conséquences sur la fréquence des maladies à déterminisme génétique sont importantes et notamment en ce qui concerne les maladies autosomales récessives. Les études de jumeaux et d’adoption et les estimations du risque de survenue de troubles mentaux chez les apparentés de sujets atteints dans les études familiales ont confirmé l’existence d’une composante génétique dans la vulnérabilité à de nombreuses affections psychiatriques. Les techniques récentes d’examen du génome entier ou étude d’association pangénomique, en anglais genome-wide association study (GWAS), permettent d’identifier de plus en plus de gènes impliqués dans les troubles mentaux majeurs tels que la schizophrénie, l’autisme et le trouble bipolaire. Les études d’épidémiologie génétique auprès de populations consanguines et/ou constituant un isolat géographique mettent en évidence une augmentation des taux de mortalité et de morbidité infantiles, de la fréquence des maladies monogéniques récessives et une concentration accrue de maladies communes multifactorielles comme les troubles psychotiques. Elles confirmeraient l’existence d’un lien significatif entre consanguinité et troubles mentaux et l’augmentation du risque au sein de la descendance des couples consanguins. Ces études sur les liens entre consanguinité et troubles psychotiques sont peu nombreuses. Les rares données dont nous disposons semblent pourtant en faveur d’une augmentation de la fréquence de la schizophrénie et des troubles bipolaires dans la descendance de parents consanguins. La découverte récente des variants génétiques rares et leurs implications dans les troubles psychotiques constituent un argument en faveur de l’hypothèse « maladie commune-variants rares ». Dans ce cadre, l’étude de familles consanguines pourrait contribuer à tester les liens entre ces variants rares et quelques phénotypes et à établir des descriptions d’associations génotype/phénotype. Le développement de techniques nouvelles en génétique moléculaire devrait favoriser de telles études. L’ensemble de ces aspects mettent en évidence l’importance de l’étude des populations consanguines dans la compréhension du rôle des déterminants génétiques dans les pathologies psychiatriques et soulignent l’intérêt du conseil génétique pour ces communautés à hauts risques de troubles mentaux. Ils peuvent permettre également la mise en place de politiques de prévention et de sensibilisation sur les risques liés aux unions consanguines. [ABSTRACT FROM AUTHOR]

Introduction: The Entlebucher Mountain Dog is predisposed to ureteral ectopia and associated diseases of the urinary tract as well as the kidneys, which can have severe to lethal consequences. Due to the clustered occurrence of clinical signs in 11 % of Entlebucher Mountain dogs in the absence of a genetic test for ureteral ectopia, screening was introduced in 2008 to allow phenotype-based breeding selection. The ureteral orifices of the dogs are visualized by ultrasound and existing urinary retention or urinary incontinence is documented. The diagnostic findings were evaluated centrally with assignment to one of five phenotypes depending on the localization of the ureteral orifices and the renal and ureteral shape. Breeding approval and mating restrictions are the responsibility of the respective breeding associations and predominantly Entlebucher Mountain Dogs with extravesical ectopic ureters and/or clinical signs were excluded from breeding. The effect of phenotype-based selective mating on the incidence of ureteral ectopia and its clinical signs, as well as possible factors influencing the expression of the phenotype, were determined in the birth cohorts after the introduction of screening. Analysis of the data set of 1456 phenotyped Entlebucher Mountain Dogs showed, that at 11 % versus 5 %, males were more frequently assigned to the extravesical phenotype than females. The effect of phenotype-based breeding selection was examined in a subpopulation consisting of phenotyped parents and their offspring (n = 876). The prevalence of the extravesical phenotype decreased from 24 % in the 2005 to 2007 birth cohorts to 1,4 % in the 2015 to 2017 birth cohorts. Since 2015 almost no Entlebucher Mountain Dogs with incontinence, hydroureter or hydronephrosis have been recorded. It was feared that the additional selection measures to control ureteral ectopia in the small Entlebucher Mountain Dog population would intensify the inbreeding increase. However, this has so far remained absent. Therefore, as long as no genetic test is available, it is recommended to continue phenotype-based breeding selection with exclusion of dogs with extravesical ureteral ectopia and/or hydroureter/hydronephrosis/urinary incontinence, while keeping an eye on the development of the inbreeding coefficient.

Copyright of IBS, Immuno-analyse & Biologie Specialisee is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Animal Genetic Resources is the property of Cambridge University Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article discusses a study of anomalies in inbred rabbits and the effects of narrow inbreeding in California rabbits and heterogenous crosses. The study involved 94 sexually mature animals aged seven to 30 months. Results show that abnormalities were mostly found in limbs, the vertebral column and skeletomuscular system. Severe deformities, osteolytic, osteoporotic and osteosclerotic signs are the characteristic signs of the skeletal anomalies. It concludes that the formation of limbs, vertebral column and the skull, among others, was negatively affected by the inbreeding depression.

Copyright of Terrain is the property of Mission Patrimoine Ethnologiq and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Pitcher's thistle (Cirsium pitcheri Torr. ex Eaton (Torr. & Gray)) is a Great Lakes endemic that in Canada is designated as threatened at both the provincial (Ontario) and national levels. Management plans will benefit from conservation genetic data, which can provide insight into population genetic diversity and differentiation. We obtained genetic data from nuclear and chloroplast microsatellite markers from 17 populations of C. pitcheri around the Great Lakes. The nuclear data revealed overall low levels of diversity, high levels of inbreeding, and low levels of population connectivity. The chloroplast data identified a single haplotype, which is consistent with reduced genetic diversity following postglacial colonization. The high levels of inbreeding within populations will likely pose a serious threat to populations in the short term; these have resulted from a combination of low connectivity between populations, and small and fluctuating population sizes. Future management of C. pitcheri populations should consider human-mediated dispersal of plants or seeds among sites. [ABSTRACT FROM AUTHOR]

Usher syndrome is defined by the association of a progressive or non-progressive congenital sensorineural hearing loss with variable severity and a gradually blinding pigmentary retinopathy. Von Recklinghausen neurofibromatosis or Neurofibromatosis type 1 is the major clinically form of neurofibromatosis which occurs in approximately 90% of cases. Both types of disease are genetic in origin with very low prevalence. The probability of co-occurrence of these diseases in a single individual is exceptional. Inbreeding, as well as all genetic diseases, increases quite significantly the probability of their occurrence. Consanguineous marriages are still widespread in Maghreb and in some regions of the western African. This observation reports an exceptional case of this association in a 40-year-old man of Mauritanian origin born from a consanguineous union. [ABSTRACT FROM AUTHOR]

Abstract: In group living, species spatial distribution results from responses to environmental heterogeneity and/or mutual interactions between individuals. These mutual interactions can be regulated by genetic and/or epigenetic factors. In this study, we focus on genetic factors and investigate how the spatial distribution of some individuals colonizing a new environment is influenced by inbreeding. Our biological model is Tetranychus urticae, a phytophagous mite considered as a major pest of many cultivated plants. Groups of T. urticae were composed of individuals from successive inbreeding (sister–brother sib-mating). Our results show that the inter-individual distances increase with inbreeding. Indeed, inbreeding level seems to be an important factor affecting the intra-plant spatial distribution of mites. These results confirm that mites have the capability to discriminate their kin and, moreover, that they are able to accurately perceive differences between close relatives from sib-mating lines. To cite this article: G. Le Goff et al., C. R. Biologies 332 (2009). [Copyright &y& Elsevier]

Abstract: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of specific enzymes which leads to the lysosomal accumulation of glycosaminoglycanes. Mucopolysaccharidosis type I or Hurler disease is characterized by the deficiency of alpha-l-iduronidase enzyme. Mucopolysaccharidosis type IVA or Morquio A disease is due to the lack of N-acetylgalactosamine-6-sulfate-sulfatase. Theses deficiencies result in a progressive accumulation of the substrates: dermatan and heparan sulfates for Mucopolysaccharidosis type I and keratan sulfate for MPS type IVA. This process leads to progressive and chronic course for visceral attacks of the affected organs such as lungs and heart. In the Hurler disease, the nervous system is particularly affected while in Morquio a disease, a skeletal dysplasia and a normal intelligence are characteristic. Aim of the study: This study was carried out on MPS type I and MPS type IVA unrelated families recruited from many regions of Tunisia in order to determine the relation between consanguinity and these types of disorders. Patients and methods: Clinical and molecular analyses confirmed the diagnosis for four MPS type I and five MPS type IVA studied families. Results: First cousins unions characterize all families except one Hurler family and one Morquio A family where the consanguinity is third cousin degree. Conclusion: MPS type I and type IVA seems to be associated with consanguinity in Tunisia. [Copyright &y& Elsevier]

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The fragmentation of forests into small, isolated remnants may reduce pollen quantity and quality in natural plant populations. The reproductive success of white spruce (Picea glauca (Moench) Voss) was assessed in a landscape fragmented by agriculture in northern Ontario, Canada. We sampled a total of 23 stands and 104 white spruce trees from three different stand size classes. Each sampled stand was separated by 250–3000 m from the nearest neighbouring stand. Reproductive success, measured as the number of filled seeds per cone, increased with stand size. The total number of seeds per cone, a measure that includes both filled and aborted seeds, also increased with stand size, suggesting that pollen receipt limits the number of seeds in a cone. The proportion of empty seeds (postzygotic abortions) was highest in the two smallest stand size classes, suggesting that inbreeding levels were also highest in these stands. We detected no difference in germination success, seedling growth, and growth of trees up to 10 years from seeds produced by trees from different stand size classes. These results suggest that inbred individuals are largely eliminated during the seed development stage. We estimated that a threshold population size of 180 trees is needed to reduce the negative effects of pollen limitation and inbreeding and maintain seed yields observed in large contiguous stands. [ABSTRACT FROM AUTHOR]