Mixture Of People Research Articles

Predicting Cerebrospinal Fluid Alpha-Synuclein Seed Amplification Assay Status from Demographics and Clinical Data.

To develop and externally validate models to predict probabilities of alpha-synuclein (a-syn) positive or negative status in vivo in a mixture of people with and without Parkinson's disease (PD) using easily accessible clinical predictors. Uni- and multi-variable logistic regression models were developed in a cohort of participants from the Parkinson Progression Marker Initiative (PPMI) study to predict cerebrospinal fluid (CSF) a-syn status as measured by seeding amplification assay (SAA). Models were externally validated in a cohort of participants from the Systemic Synuclein Sampling Study (S4) that had also measured CSF a-syn status using SAA. The PPMI model training/testing cohort consisted of 1260 participants, of which 76% had manifest PD with a mean (± standard deviation) disease duration of 1.2 (±1.6) years. Overall, 68.7% of the overall PPMI cohort (and 88.0% with PD of those with manifest PD) had positive CSF a-syn SAA status results. Variables from the full multivariable model to predict CSF a-syn SAA status included age- and sex-specific University of Pennsylvania Smell Identification Test (UPSIT) percentile values, sex, self-reported presence of constipation problems, leucine-rich repeat kinase 2 (LRRK2) genetic status and pathogenic variant, and GBA status. Internal performance of the model on PPMI data to predict CSF a-syn SAA status had an area under the receiver operating characteristic curve (AUROC) of 0.920, and sensitivity/specificity of 0.881/0.845. When this model was applied to the external S4 cohort, which included 71 participants (70.4% with manifest PD for a mean 5.1 (±4.8) years), it performed well, achieving an AUROC of 0.976, and sensitivity/specificity of 0.958/0.870. Models using only UPSIT percentile performed similarly well upon internal and external testing. Data-driven models using non-invasive clinical features can accurately predict CSF a-syn SAA positive and negative status in cohorts enriched for people living with PD. Scores from the UPSIT were highly significant in predicting a-syn SAA status.

Mixed-Immigration Status Families During the COVID-19 Pandemic.

To understand how mixed-immigration status families-families with a mixture of people with and without documentation-in the United States (U.S.) fared during the COVID-19 pandemic. Specifically, this study highlights how health inequities were exacerbated during the height of the pandemic due to the implementation of anti-immigration policies such as Public Charge Rule, which stipulates that receiving public benefits is grounds for inadmissibility for immigrants seeking naturalization. In-depth semistructured interviews were conducted over Zoom with 14 members of mixed-status families between February and April 2021. The interviews were audio recorded, transcribed, and analyzed using Atlas.ti. Using grounded theory, we assessed the level of awareness about Public Charge Rule and the health challenges these families faced during the COVID-19 pandemic. Themes that emerged included financial problems, job insecurity, housing insecurity, food insecurity, mental health problems, distrust of government and health officials, and a fear of Public Charge Rule. We present a framework for understanding health inequities for mixed-status families during the COVID-19 pandemic. Public Charge Rule caused fear and confusion for mixed-status families during the COVID-19 pandemic, resulting in individuals not receiving public benefits they urgently needed. This created heightened mental health problems due to job, housing, and food insecurity. We discuss how trust between mixed-status families and the government needs foundational rebuilding. In addition to streamlining the process for these families to apply for legal status, it is important to protect and support mixed-status families through programs and policies during public health emergencies.

THE RELATIONSHIP BETWEEN MOTIVATION AND THE ENVIRONMENT WITH MALARIA PREVENTION EFFORTS IN THE WORKING AREA OF PUSKESMAS, TENGAH Ilir DISTRICT, TEBO DISTRICT

Malaria is still a public health problem in Indonesia because of its high morbidity and mortality rates, especially in areas outside Java and Bali. In transmigration areas where there is a mixture of people from endemic and non-endemic areas of malaria, cases or epidemics still frequently occur which cause many deaths. Data from the Tebo District Health Office for January-July 2014 were 519 people out of a population of 328,564 people (0.16%) with an AMI of 1.6. The highest incidence of malaria was in the Mengupeh Health Center, Tengah Ilir District, with 75 people out of a population of 11,820 people (0.63%) with an AMI of 6.34. The purpose of this study was to find out the description and relationship between malaria prevention efforts in the Working Area of ​​the Mengupeh Health Center, Tengah Ilir District, Tebo Regency in 2015. This research is a quantitative study with a cross sectional research design. In this study, the sample was the community in the Working Area of ​​the Mengupeh Health Center, Tengah Ilir District, Tebo Regency, with a sample size of 96 people. The results showed that of the 96 respondents, 57 (59.4%) respondents had poor motivation, 59 (61.5%) respondents had a bad environment, respondents had poor malaria prevention efforts. The results of the analysis showed that there was a relationship between motivation and a p value of 0.007 (p <0.05), environment with a p value of 0.009 (p <0.05) on malaria prevention efforts in the Working Area of ​​the Mengupeh Health Center, Tengah Ilir District, Tebo Regency. Advises the public to be active in seeking information about prevention of malaria in order to reduce the incidence of malaria. At the same time actively maintaining the cleanliness of the home environment and their respective settlements.

Ancient genomes reveal complex genetic history of an international metropolis at Kublai Khan's Upper Capital (Xanadu)

AbstractObjectivesAs the political, economic, military, and cultural center of the early Yuan Dynasty, Xanadu attracted people from all over the world. It was thriving and prosperous, composed of residents with different customs and religious beliefs from different social strata. Genetic analysis of Xanadu's residents provides a valuable approach for inferring processes of population movement and exchange during the Yuan period.Materials and MethodsNine skeletons from Zhenzishan cemetery, the largest cemetery near Xanadu, were selected for the whole‐genome shotgun sequencing and capture sequencing of the nonrecombining region of the Y chromosome, three of whom were identified as likely being of European descent based on cranio‐facial morphology.ResultsThere were nine mitochondrial DNA (mtDNA) haplotypes (F1a1, D5b1, B4a3, B5a2a1, H6a1a, T2d1, D4o2a, N9a1, and Z4a) and eight Y‐chromosome DNA haplogroups (G/M201, I/M170, J/M304, L/M20, O/M175, Q/M242, R/M207, and T/M184) identified in the nine ancient individuals. Autosomal analysis further subdivided them into four groups (ZZS_EA, ZZS_CA, ZZS_SA, and ZZS_Cau).DiscussionAs the capital of the Yuan Dynasty, Xanadu was a prosperous city with international influence. The nine skeletons from the Zhenzishan cemetery reflect the high genetic diversity of Xanadu's residents, with clear differences in paternal and maternal origins. The maternal lineages of these residents were mainly East Asian with some western Eurasian features, while the paternal lineages were mainly western Eurasian with fewer East Asian features. These results contribute to a better understanding of the Mongolian Empire's impact on the migration and mixture of people across the Eurasian continent.

Amparo as a Reflection of Mexico's Evolving Society and Judicial System

An aguila dorada beats its wings and lifts off a twisting sapodilla tree branch overlooking the ruins of the once-mighty jungle kingdom of Palenque. It rises above undulating hills and past the majestic strongholds of the western hemisphere's greatest ancient civilization. It soars past stonework cut to perfection without modern tools, glides past 1,000-year-old solar calendars whose ancient timekeeping rivals the modern atomic clock. The eagle heads west and passes cerulean rivers cutting through emerald jungles plunging into the fissure of the Sumidero Canyon. Thermals lift the eagle to the high, dusty plain of Monte Alban and it turns north. It approaches the eternal spring of Cuenavaca and then over the frenetic megalopolis of Cuidad de Mexico. It glides above the imposing Teatitulaican and then drifts through the pastoral Bajío. The world's two biggest oceans flank the sides of her long north/south country. The air grows warmer as she traverses the spine of the Sierra Madre. The mountains flow down and dissolve into verdant jungles which, in turn, edge right up narrow beaches with crashing blue waves. The Sierra Madre then gives way to wild, tawny country, filled again with canyons, mesas and then ends at the Rio Bravo. The national symbol of Mexico is traced over a rich tapestry of topography, cultures, economies, history, and mixture of peoples. Reflected in this diversity is Mexico's stunning contribution to world jurisprudence: the Amparo.

ECOS DA MINHA ALMA CRIVADA DE RAÇAS

O trabalho tem como objeto de estudo o poema Improviso do Mal da América (Fevereiro de 1928), de Mário de Andrade. Diante desse poema abordaremos a questão da construção da identidade brasileira. O poema apresenta essa busca fatigada por uma identidade não apenas do eu-lírico e de São Paulo, mas do Brasil como um todo. Neste trabalho abordaremos a construção poética numa perspectiva de conexões e contradições que emergem as relações de diversos povos, falas e cores. O eu-lírico no poema aponta a complexidade do fazer poético em torno da mistura e apagamento não apenas de povos dispostos no poema, mas da própria linguagem diversa na composição estética da condução imagética da historicidade que emerge o ser social. O poema será analisado de acordo com o embasamento teórico de João Luiz Lafetá e György Lukács que elucidarão questões referentes a estrutura narrativa que tem como projeto estético humanizador em sua potência transformadora e crítica.
 Palavras-chave: Mário de Andrade. Improviso do Mal da América. Identidade.

Collective Adaptation through Multi-Agents Ensembles

Modern software systems are becoming more and more socio-technical systems composed of distributed and heterogeneous agents from a mixture of people, their environment, and software components. These systems operate under continuous perturbations due to the unpredicted behaviors of people and the occurrence of exogenous changes in the environment. In this article, we introduce a notion of ensembles for which, systems with collective adaptability can be built as an emergent aggregation of autonomous and self-adaptive agents. Building upon this notion of ensemble, we present a distributed adaptation approach for systems composed by ensembles: collections of agents with their respective roles and goals. In these systems, adaptation is triggered by the run-time occurrence of an extraordinary circumstance, called issue. It is handled by an issue resolution process that involves agents affected by the issue to collaboratively adapt with minimal impact on their own preferences. Central to our approach is the implementation of a collective adaptation engine (CAE) able to solve issues in a collective fashion. The approach is instantiated in the context of a smart mobility scenario through which its main features are illustrated. To demonstrate the approach in action and evaluate it, we exploit the DeMOCAS framework, simulating the operation of an urban mobility scenario. We have executed a set of experiments with the goal to show how the CAE performs in terms of feasibility and scalability. With this approach, we are able to demonstrate how collective adaptation opens up new possibilities for tackling urban mobility challenges making it more sustainable respect to selfish and competitive behaviours.

Where does the real problem lie?

Journal of Wound CareVol. 27, No. 6 EditorialFree AccessWhere does the real problem lie?Rachel WebbRachel WebbSearch for more papers by this authorRachel WebbPublished Online:8 Jun 2018https://doi.org/10.12968/jowc.2018.27.6.353AboutSectionsPDF/EPUB ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareShare onFacebookTwitterLinked InEmail At the end of May I was invited to attend a meeting at the House of Lords (HoL, London, UK) to discuss a National Wound Care Strategy. The event was attended by 50 people with differing interest in the project, including NHS improvement, tissue viability nurses, podiatrists, surgeons, industry, wound care societies and charity representatives and academics. Quite a mixture of people. The meeting was hosted by the Rt Hon. Lord Hunt of Kings Heath and started with a talk from Prof Julian Guest on the burden of wounds,1 who was followed by Margaret Kitching (Chief Nurse North) who gave a overview of how a national wound care strategy was to be created. A summary of the key points made can be found on page 403. However, on reflection I wanted to talk about something that was perhaps not given the significance it deserves.It the meeting it was said that 74% of wounds were managed by district nurses, however, the number of district nurses in England has halved since 2010.2 So most wound are managed by district nurses and the number of district nurses in England has fallen. Neither of these points was given much time at the meeting—although Baroness Watkins did state that 5000 more district nurses would be recruited by 2019. I don't have a full list of participants at the meeting, however I do not believe there were any district, practice and general nurses in attendance, and if so, they didn't offer any comments from their perspectives. It was also unclear as to whether these groups, and in particular district nurses, would be represented on/at any of the boards/workshops/work stream groups which will create a National Wound Care Strategy.Given this, here is my point. The people who manage most wounds should be key to the strategy. It is from those who deal with the most wounds that we can learn why we are failing patients, and what is required to facilitate wound healing. Is it as simple as more resources and better education? Furthermore, as best practice and National Institute for Health and Care Excellence (NICE) guidelines already exist, but are not always adopted, are new pathways created by another set of experts really required, or should we examine what the hurdles are to using the current guidelines. Lack of time/money/education? Before we reinvent a wheel that seems to have been invented many times before, maybe we should look and see why it's not being used in its current form, and while having panels of wound care experts will provide the best and most up-to-date evidence and practice available, this may not be where the problem lies. If the most basic information on wound care is not getting to those who deal with the majority of the wounds whatever else we choose to do may end up being a little pointless.Don't misunderstand me. I think creating a national strategy in England is hugely exciting, important and a great step forward for wound care—or woundology, as one panel member suggested—especially given the predicted increase in the problem. However, this must include input from those who see the majority of wounds so we can clear identify the problems and undertake the appropriate initiatives. References 1 Guest JF, Ayoub N, McIlwraith T et al.. Health economic burden that wounds impose on the National Health Service in the UK. BMJ Open 2015; 5(12):e009283. doi: https://doi.org/10.1136/bmjopen-2015-009283 Crossref, Medline, Google Scholar2 Hughes D. District nurse numbers under pressure. BBC http://www.bbc.co.uk/news/health-41974736. 20 Nov 2017 (accessed 31 May 2018) Google Scholar FiguresReferencesRelatedDetails 2 June 2018Volume 27Issue 6ISSN (print): 0969-0700ISSN (online): 2052-2916 Metrics History Published online 8 June 2018 Published in print 2 June 2018 Information© MA Healthcare LimitedPDF download

Jimma Town: Foundation and Early Growth from ca. 1830 to 1936

AbstractThis study deals with the early history of Jimma town and its growth from its foundation until 1936. It explores social, economic and administrative themes, but also attempts to show the interrelationship between these themes. The town of Jimma evolved during this period from being the home-town of a relatively homogenous society and culture into a place of residence for a diverse and increasingly cosmopolitan population. Economically, the story of Jimma during this period is one of both continuity and change. It is a story of continuity because Jimma, which had been a center of trade from the very beginning, continued to be so during this period. There was significant change, however, because unlike the previous decades in which Jimma had served as a point of exchange or transit for elite goods that mostly originated from beyond the borders of the Oromo Kingdom (such as slaves, ivory and musk), during this period the town developed into the chief center for the collection, organization and export of a cash crop that was grown locally (coffee).Economic change, therefore, resulted in both production and exchange. The social, economic and administrative history of Jimma is closely intertwined, however. The mixture of peoples and cultures, as well as the nature of the urban social institutions that evolved in the town, are closely tied to “the cash crop revolution”, which brought streams of permanent and temporary residents to the town; the evolution of the town into a chief administrative center, as well as the introduction of somewhat peculiar administrative and fiscal institutions, came about, at least in part, as a result of the location of the town in the heart of the “coffee country”, as southwestern Ethiopia came to be known. In short, both the urbanity and the urbanization of Jimma can be explained by the story of coffee production and trade. This article documents these processes extensively and accounts for the growth of a major town in modern Ethiopia.

A case study of the experiences of instructors and students in a virtual learning environment (VLE) with different cultural backgrounds

The use of virtual learning environments (VLEs) has become more common and educators recognized the potential of VLEs as educational environments. The learning community in VLEs can be a mixture of people from all over the world with different cultural backgrounds. However, despite many studies about the use of virtual environments for learning, there has been little research on the perspectives of both instructors and students from different cultural backgrounds toward using a VLE. Thus, to gain insight into both instructors’ and students’ perspectives with different cultural backgrounds toward using a VLE, this paper conducted a qualitative exploratory case study. For more interactive learning, the VLE of the study was designed in Second Life which is one of the 3D VLEs and equipped with screen sharing software. In addition, one facilitator provided the technical and language translation support throughout the research process. Then, this paper also endeavored to determine educational implications of this new approach based on its findings.

English Language Teachers’ Attitudes Towards the Incorporation of Gay- and Lesbian-Related Topics in the Classroom: the Case of Greek Cypriot EFL Teachers

The English as a foreign language (EFL) classroom is composed of a mixture of people with various backgrounds and identities. Sexuality is increasingly recognised as a form of identity similar to other categorical forms such as class, gender and ethnicity. Based on the idea that ‘otherness’ related issues should be treated in the foreign language classroom as a means to achieve existential competence, the present study investigates the attitudes of Greek Cypriot EFL teachers towards the inclusion of gay- and lesbian-related topics in the EFL classroom. A 15-item questionnaire was designed and data was collected from 58 English language teachers in Cyprus. The results indicated that EFL teachers tended to have positive attitudes towards the use of gay- and lesbian-related topics in the classroom. Positive attitudes seemed to be caused by the belief that students would find such topics interesting and on the condition that they are part of the course-book. Negative attitudes seem to be formed because EFL teachers believe that they were ill-equipped to deal with the use of such topics and homophobia in the classroom. As it is generally teachers who play a large part in determining what constitutes allowable discourses in the classroom, their role becomes even more significant in evoking insights, enriching students’ educational experiences and creating an accepting classroom environment towards the discussion of gay- and lesbian-related topics.

"A Mixture of People with Different Roots": Swedish Immigrants in the American Ethno-Racial Hierarchies

A Mixture of People with Different Roots : Swedish Immigrants in the American Ethno-Racial Hierarchies

무대의상에 나타난 다원적 절충주의 경향에 관한 연구 - 세계 4대 뮤지컬을 중심으로 -

The purpose of this study is to examine the trend of plural eclecticism in costumes appearing on the stages of the world's top 4 musicals based on the general researches and establishments made of the mentioned concept. The conclusions of this study are as follows. First, the aspects of eclectics appearing in overall pieces can be defined as situational eclecticism. It can be attributed to the dramatic elements contrasted in the storyline of the musical and occurs in mixture with various situations. Showing combinations of costumes from varying situations at once in the same stage makes the audience feel the dynamic elements of the piece. Second, the aspect of temporal eclecticism, which can be seen in the 'Phantom of the Opera' regarding mixture of crinoline style and art nouveau style, resulted from the partial mixture of classical elements for maximizing visual beauty in the historical pieces. Third, the aspect of spatial eclecticism can be observed in the musical 'Miss Saigon', which used costumes that combined multicultural elements by exposing different spaces and cultures such as America and Vietnam. It eclectically expresses the unique cultures and costumes of each country. Fourth, 'Les Miserables' shows the aspect of situational eclecticism, through its use of mixture of situations in various aspects, and in particular, the male and female costumes that blur the boundaries of life, death, and costume, the mixture of people's costume and aristocrat's costume, and the situational elements where the good and evil are contrasted are integrated eclectically to make the story dramatic.

Identifying and Recruiting Recovery Champions: Exploratory Action Research in Barnsley, South Yorkshire

The UK Drug Strategy has embraced the philosophy of recovery as an “individual, person-centered journey” (Her Majesty's [HM] Government, 2010, p. 19) and is supported by a local network of recovery champions. The purpose of this article is to examine proactive attempts at establishing such networks based on training and working with a mixture of people in recovery and professionals, supported by a local recovery leader. What is presented in this article is a case study of an initiative attempting to access and link recovery champions. The early stages of the initiative were planned in advance, but the later stages were evolutionary and were based on the decisions of the emerging recovery champions group. The initiative started with a series of workshops to raise awareness about recovery, and from this, to recruit an initial group of candidate champions. Small groups were successfully recruited to participate in subsequent champions workshops, and they have since translated that commitment to a range of actions and directions, which have attempted to generate a visible recovery community and to challenge stereotypes and stigma perceptions. The final section of the article will review the utility of the label of “recovery champion” and will examine the role of such networks in enabling and supporting the emergence of a local culture of recovery.

Patterns of Racial Diversity and Segregation in the United States: 1990–2010*

The growing ethnic and racial diversity of the United States is evident at all spatial scales. One of the striking features of this new mixture of peoples, however, is that this new diversity often occurs in tandem with racial concentration. This article surveys these new geographies from four points of view: the nation as a whole, states, large metropolitan areas, and neighborhoods. The analysis at each scale relies on a new taxonomy of racial composition that simultaneously appraises both diversity and the lack thereof (Holloway, Wright, and Ellis 2012). Urban analysis often posits neighborhood racial segregation and diversity as either endpoints on a continuum of racial dominance or mirror images of one another. We disturb that perspective and stress that segregation and diversity must be jointly understood—they are necessarily related, although not as inevitable binary opposites. Using census data from 1990, 2000, and 2010, the research points to how patterns of racial diversity and dominance interact across varying spatial scales. This investigation helps answer some basic questions about the changing geographies of racialized groups, setting the stage for the following articles that explore the relationship between geography and the participation of underrepresented groups in higher education.

STR data for the AmpFℓSTR Identifiler loci from Swedish population in comparison to European, as well as with non-European population

The modern Swedish population is a mixture of people that originate from different parts of the world. This is also the truth for the clients participating in the paternity cases investigated at the department. Calculations based on a Swedish frequency database only, could give us overestimated figures of probability and power of exclusion in cases including clients with a genetic background other than Swedish. Here, we describe allele frequencies regarding the markers in the Identifiler-kit. We have compared three sets of population samples; Swedish, European and non-European to investigate how these three groups of population samples differ. Also, all three population sets were compared to data reported from other European and non-European populations. Swedish allele frequencies for the 15 autosomal STRs included in the Identifiler kit were obtained from unrelated blood donors with Swedish names. The European and non-European frequencies were based on DNA-profiles of alleged fathers from our paternity cases in 2005 and 2006.

Rounds, Range Rovers and rurality: The drinking geographies of a New Squirearchy

In an article detailing the ‘cultural terrain’ of the village inn, Maye, Ilbery, and Kneafsey (2005) recently argued for the need of more culturally informed geographical work on the changing nature of the public house. A possible avenue of investigation, it is suggested, is a consideration of how various consumers make ‘sense’ of their pubs, and how different practises and meanings overlay each other within this quintessentially rural setting. In undertaking such studies, notions of heterogeneous association and ‘lifescape’ may be usefully employed in shedding light on the peculiar mixture of people, objects and interactions within this space. Drawing upon ethnographic research undertaken in a Bedfordshire pub, the ‘Six Tuns’, this paper will consider a collective labelled the ‘New Squirearchy’; a fraction of local residents who may be loosely defined through their apparent efforts to recreate the perceived roles and lifestyle of the archetypal English country gentleman. Here it is argued that the public house acts as a key space in which this identity is overtly negotiated and played out, and one that is appropriated within the midst of other pub-dwellers by these ‘New Squires’.

TRADE CENTRES (MAIMAICHENG) IN MONGOLIA, AND THEIR FUNCTION IN SINO–RUSSIAN TRADE NETWORKS

The development of transit trade between China and Russia after the eighteenth century led to the growth of prosperous Chinatowns in Mongolia. These maimaicheng (lit. “trade towns”) along a Chinese merchant network that reached Siberia and Turkestan displayed distinctive urban spaces, where a multicultural mixture of people – Chinese, Mongolian, Tibetan and Hui Moslem – created new architectural styles and produced unique streetscapes. Unlike urban formations before the eighteenth century, these new towns absorbed nomadic and religious elements into their residential and secular spaces. This did not however imply assimilation. The landscape of northern Chinese towns clearly shows how different cultures were able to preserve their original styles and simultaneously adapt themselves to coexist with others.

Some Reflections on Culture and Health: a Response to Prof. Bernard Ugeux

International Review of MissionVolume 95, Issue 376-377 p. 143-150 Some Reflections on Culture and Health: a Response to Prof. Bernard Ugeux John Oommen, John Oommen Dr John Oommen u head of the Community Health Department at the Christian Hospital in Bissamcuttack, Orissa, IndiaSearch for more papers by this author John Oommen, John Oommen Dr John Oommen u head of the Community Health Department at the Christian Hospital in Bissamcuttack, Orissa, IndiaSearch for more papers by this author First published: 25 March 2009 https://doi.org/10.1111/j.1758-6631.2006.tb00549.x AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume95, Issue376-377January‐April 2006Pages 143-150 RelatedInformation

Fragile X trinucleotide repeats from a normal population in Rio de Janeiro, Brazil.

Fragile X, or Martin-Bell Syndrome is associated with a fragile site in the long arm of chromosome X, at Xq27.3. The incidence is ljl500 among males, and lj2500 in females. The major clinical features include mental retardation, macroorquidism, and craniofacial dysmorphology . The gene responsible for the disease, called FMR1, contains an expansion of a CGG repeat in the 5' untranslated region in its first exon (VERKERK et al. 1991). In the normal population the repeat size ranges from 6 to 54 copies (Fu et al. 1991). The normal transmitting male and some carrier females fall inside the pre-mutation category with allele sizes ranging from 43 to 200 copies. Above 200 copies it is considered a full mutation and people who have the repeat size in this range express the phenotypic characteristics of the syndrome (OOSTRA and WILLEMS 1995). Ultimately, the syndrome is characterized by the lack of the FMRl protein. It was suggested that 0.9 % of the normal population would have alleles in the pre-mutation size (ROUSSEAU et al. 1994). Based in the length, these alleles can be further divided in three groups: (1) small size (bellow 55 repeats), with a very low risk of expansion to a full mutation, (2) alleles in the size of 56-65 repeats, with 20-30%) risk of expansion to a full mutation, and (3) alleles with numbers of repeats greater than 90, with almost 100 YO risk of conversion to a full mutation. The allele expansion occurs during female meiosis leading to an unstable allele above 43 repeats (OOSTRA and HALLEY 1995). Another feature that contributes to the stability of the region is the presence of AGG interruptions after a stretch of 9 or 10 CGG. The lack of the interruption would predispose to the instability (EICHLER et al. 1995). Taking into account the global population, the number of repeats seems to be very constant, the major alleles being within the 29-30 repeat size (KUNST et al. 1996). It is well known that the Brazilian population is composed of, at least, three different ethnical groups, which are distinctly distributed throughout the country. At the beginning of the century, the south of Brazil received a major contribution from European Caucasians. The north and Northeast are composed, mainly, of native and African Americans. Due to economic reasons, the Southeast, which includes the Rio de Janeiro area, received people from all over the country and, at present, its population represents a mixture of people of different ethnic origin. Recently, nine VNTR markers for anonymous loci have shown no remarkable difference between the Brazilian population and the American Caucasian (MOURA-NETO and BU-