scholarly journals TYPES OF MARRIAGES, POPULATION STRUCTURE AND GENETIC DISEASE

2012 ◽  
Vol 45 (4) ◽  
pp. 461-470 ◽  
Author(s):  
T. M. B. MACHADO ◽  
T. F. BOMFIM ◽  
L. V. SOUZA ◽  
N. SOARES ◽  
F. L. SANTOS ◽  
...  
Keyword(s):  
Population Structure ◽  
High Frequency ◽  
Genetic Diseases ◽  
High Rate ◽  
Occurrence Rate ◽  
Consanguineous Marriages ◽  
Rare Genetic Diseases ◽  
Different Types ◽  
Autosomal Recessive Diseases ◽  
The City

SummaryA high occurrence rate of consanguineous marriages may favour the onset and increased frequency of autosomal recessive diseases in a population. The population of Monte Santo, Bahia, Brazil, has a high frequency of rare genetic diseases such as mucopolysaccharidosis type VI, whose observed frequency in this population is 1:5000, while the incidence of this disease recorded in other regions of the world varies from 1:43,261 in Turkey to 1:1,505,160 in Switzerland. To verify the influence of consanguineous marriage on the increased frequency of observed genetic diseases in this population, the population structure and frequency of different types of marriage during different time periods were evaluated. A total of 9765 marriages were found in an analysis of parish marriage records from the city. Over three periods, 1860–1895, 1950–1961 and 1975–2010, the inbreeding rates were 37.1%, 13.2% and 4.2% respectively. Although there was a high rate of inbreeding, endogamic marriages were the dominant marriage type in all three periods. In the most recent period, there was an increase in the number of exogamous marriages and those among immigrants, but most of these occurred among individuals from cities that neighbour Monte Santo. The low rate of migration and high frequency of endogamic and consanguineous marriages show that growth of this population is predominantly internal and could explain the occurrence, and increase in frequency, of recessive genetic diseases in the city.

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

scholarly journals Use of Zebrafish Models to Boost Research in Rare Genetic Diseases

2021 ◽  
Vol 22 (24) ◽  
pp. 13356
Author(s):  
Lucie Crouzier ◽  
Elodie M. Richard ◽  
Jo Sourbron ◽  
Lieven Lagae ◽  
Tangui Maurice ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Genetic Diseases ◽  
Critical Role ◽  
High Rate ◽  
Research Strategies ◽  
Preclinical Research ◽  
In Vivo Models ◽  
Rare Genetic Diseases ◽  
Number Of Patients

Rare genetic diseases are a group of pathologies with often unmet clinical needs. Even if rare by a single genetic disease (from 1/2000 to 1/more than 1,000,000), the total number of patients concerned account for approximatively 400 million peoples worldwide. Finding treatments remains challenging due to the complexity of these diseases, the small number of patients and the challenge in conducting clinical trials. Therefore, innovative preclinical research strategies are required. The zebrafish has emerged as a powerful animal model for investigating rare diseases. Zebrafish combines conserved vertebrate characteristics with high rate of breeding, limited housing requirements and low costs. More than 84% of human genes responsible for diseases present an orthologue, suggesting that the majority of genetic diseases could be modelized in zebrafish. In this review, we emphasize the unique advantages of zebrafish models over other in vivo models, particularly underlining the high throughput phenotypic capacity for therapeutic screening. We briefly introduce how the generation of zebrafish transgenic lines by gene-modulating technologies can be used to model rare genetic diseases. Then, we describe how zebrafish could be phenotyped using state-of-the-art technologies. Two prototypic examples of rare diseases illustrate how zebrafish models could play a critical role in deciphering the underlying mechanisms of rare genetic diseases and their use to identify innovative therapeutic solutions.

scholarly journals A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases

2019 ◽  
Vol 08 (03) ◽  
pp. 168-171
Author(s):  
Evren Gumus
Keyword(s):  
Genetic Disorders ◽  
Genetic Diseases ◽  
Laboratory Data ◽  
Valuable Insight ◽  
Homozygous Mutation ◽  
Homozygous Variant ◽  
Whole Exome ◽  
Rare Genetic Diseases ◽  
Proc Gene ◽  
Autosomal Recessive Diseases

AbstractIn the present case report, we described a 6-year-old-boy with developmental delay, mental retardation, lack of speech, skin scars, and 2 to 3 toe syndactyly from healthy consanguineous Turkish parents. The whole exome sequencing (WES) analysis of this patient showed homozygous variant c.418T > C p.(Cys140Arg) in PROC gene and novel homozygous variant c.57dupC p.(Asn20Glnfs*2) in the DHCR7 gene. This finding demonstrated that WES is of great value for the diagnosis of two separate genetic disorders in a patient with multiple dysmorphic and other clinical features. It should also be kept in mind that the coexistence of two autosomal recessive diseases could be observed in highly related consanguineous marriages. The combined evaluation of clinical and laboratory data provided extremely valuable insight into the diagnosis of this unique case.

scholarly journals Leipzig’s Inner East as an Arrival Space? Exploring the Trajectory of a Diversifying Neighbourhood

2020 ◽  
Vol 5 (3) ◽  
pp. 89-102
Author(s):  
Annegret Haase ◽  
Anika Schmidt ◽  
Dieter Rink ◽  
Sigrun Kabisch
Keyword(s):  
Population Structure ◽  
Real Estate ◽  
Urban Space ◽  
Real Estate Market ◽  
Market Development ◽  
Spatial Allocation ◽  
International Debate ◽  
Different Types ◽  
Western European ◽  
The City

The article analyses and discusses the development of Leipzig and especially its inner east as an ‘urban space of arrival’ since 1990. It represents a study about arrival in the post-socialist context that is fairly rare in the international debate so far, since most of the arrival debate builds on western European evidence. Leipzig’s inner east was characterised by shrinkage until the end of the 1990s and by new growth, especially after 2010, as the whole city grew. Since the second half of the 1990s the inner east has developed into a migrant area, referred to here as an ‘arrival space.’ Today, in 2020, it represents the most heterogeneous part of the city in terms of population structure and is one of the most dynamic areas in terms of in- and out-migration. At the same time, it represents an area where large amounts of the population face different types of disadvantage. Set against this context, the article embeds the story of Leipzig’s inner east into the arrival debate and investigates the area’s development according to the characteristics discussed by the debate. Our results reveal that Leipzig’s inner east represents a meaningful example of an arrival space in a specific (post-socialist, shrinkage followed by regrowth) context and that arrival and its spatial allocation strongly depend on factors like population, housing, and real estate market development, as well as policymaking and, significantly, recognition.

Isolation and Diagnosis of Fungi from Samples of Spices in the City of Nasiriya

2020 ◽  
pp. 7-9
Keyword(s):  
Chronic Diseases ◽  
Dilution Method ◽  
Local Markets ◽  
White Pepper ◽  
Black And White ◽  
Different Types ◽  
Potential Risks ◽  
The City ◽  
Isolated Species

Examination of (35) samples of spices obtained from local markets for the purposes of isolating and diagnosing fungi growing on them. Anine isolates belonging to 13 different types of fungi were diagnosed by the standard dilution method with three replications, and it has been observed that the most samples from which the fungi were isolated is ginger. It was found that the most isolated species of fungi are Penicillium, Aspergillus, and Rizupes spp. A rare colony of fungi was observed, which indicates contamination of the spices under study with the fungus. The present study aims to identify the potential risks of the presence of fungi in spices and what may result from mycotoxins that may be the cause of many chronic diseases as a result of using these spices in large quantities. The study recommends limiting the use of contaminated spices, especially ginger, in preparing food and its uses, in addition to other types such as cloves, black and white pepper, and other types of spices found in the local markets, especially the expired ones.

Levels of Radon in Different Types of Juices Are Different In Origin Consumed and Effective on Human Health in the City of Hilla-Babel-Iraq

2019 ◽  
Vol 50 (3) ◽  
pp. 105-110
Author(s):  
LAKEN H.A. ◽  
AHMED. Y. ALI ◽  
INAAM H. KADHIM ◽  
MOHAMMED R. KAHLIL ◽  
NASIR HUSSAIN
Keyword(s):  
Human Health ◽  
Different Types ◽  
The City

Narratives of Queer Migration

2020 ◽  
Author(s):  
John Gray ◽  
Mike Baynham
Keyword(s):  
The European Union ◽  
Spatial Mobility ◽  
Class Politics ◽  
Depth Migration ◽  
Different Types ◽  
Global North ◽  
Economic Necessity ◽  
The Village ◽  
The City

This chapter considers the phenomenon of queer migration from a linguistic perspective, paying particular attention to the constitutive role of spatial mobility in narrative and its role in the construction of queer migrant identities. The chapter begins by looking at the way in which queer migration has been discussed in the literature and then moves on to address three different types of queer migration in greater depth: migration within national borders from the village/countryside to the city; migration between cities in member states within the context of the European Union; and finally, asylum-seeking within the context of migration from the Global South to the Global North. The chapter concludes by suggesting that queer migration is a complex phenomenon in which the intersection of sexuality, gender identity, desire, affect, abjection, economic necessity, class, politics, and fear for one’s life combine in ways that are unique in the lives of individual migrants.

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