Genetic Investigations in a Northern Brazilian Island

Freire‐Maia, N.; Andrade, F. Laynes de; Athayde-Neto, A. de; Cavalli, Iglenir João; Oliveira, José Carlos Coutinho De; Marçallo, Francisco Antonio; Coelho, Alexandre Siqueira Guedes

doi:10.1159/000152991

Cited by 12 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Section: Discussionmentioning

confidence: 99%

“…Inbreeding was suggested as the main reason for the high rates of albinism in the following genetic isolates in Brazil: Filús (AL) ( Silva, 2015 ; Levy, 2019 ), Ilha dos Lençóis (MA) ( Freire-Maia et al, 1978 ) and Aldeia Caruguá (PR) ( Brembatti, 2015 ). Freire-Maia et al (1978 ) observed 20% of consanguineous unions in Ilha de Lençóis (MA), even if the degree of kinship was not close. The founder effect, when a small group of individuals becomes isolated from a larger population leading to the increase of some rare allele frequencies associated with inbreeding, is the most possible explanation for the high frequency of albinism in most clusters here identified.…”

Section: Discussionmentioning

confidence: 99%

“…High prevalences are also reported in groups with high consanguinity, such as the Bhatti Tribe in Pakistan (5 in 100 people), and among indigenous communities, for example, in Kuna in Panama, where the ratio is 1:200, similar to the rate of Hopi people in North America, with a prevalence of 1:227 ( Woolf and Grant, 1962 ; Keeler, 1964 ). In Brazil, although the nationwide prevalence is not available, reports mention communities with a higher prevalence of albinism both in indigenous ( Salzano, 1961 ) and in admixed populations ( Freire-Maia et al, 1978 ). Around 1,000 Brazilian individuals are estimated to have albinism ( Marçon et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge

Moura,

Cardoso-dos-Santos,

Schuler-Faccini

2023

Genet. Mol. Biol.

View full text Add to dashboard Cite

Oculocutaneous albinism (OCA) is a heterogeneous group of genetic disorders involving deficiencies in melanin biosynthesis, with consequent skin, hair, and eye hypopigmentation. The world prevalence is estimated at 1/17,000, but there is high variability among populations. The affected individuals, besides clinical complications, can suffer from discrimination. The Brazilian population is highly admixed, with isolated and inbred communities. Previous reports indicated the presence of diverse isolated communities with a high prevalence of OCA in Brazil. The present work sought to review and characterize clusters of albinism in this country based on scientific literature search, newspapers, and websites. We identified and characterized 18 clusters, 13 confirmed by scientific studies. Seven clusters are in the Northeast region, with predominant African ancestry, and seven others in indigenous communities, particularly among the Kaingaing in South Brazil. Isolation and inbreeding associated with founder effects seem to be the most plausible explanation. Molecular studies and clinical classification are still limited. Their localization in deprived regions with poor infrastructure makes them particularly vulnerable to the social and clinical consequences of lacking melanin. We reinforce the need for a tailored approach to these communities, including appropriate medical care, social support, and genetic counselling.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge

Moura,

Cardoso-dos-Santos,

Schuler-Faccini

2023

Genet. Mol. Biol.

View full text Add to dashboard Cite

show abstract

“…The early observations include a rare form of oculocutaneous albinism in Ilha dos Lenções [9], the unique syndrome of acheiropodia (OMIM #200500) in southeast Minas Gerais [10], Grebe’s chondrodysplasia (OMIM #200700) in southern Bahia [11], and an endemic area for twinning (OMIM #276400) in Cândido Godói, Rio Grande do Sul state [12]. More recent ongoing investigations include, among others, mucopolyssaccharidosis 6 or Maroteau-Lamy syndrome (OMIM #253200) in Monte Santo, Bahia state [13], Gaucher I disease (OMIM #230800) in Tabuleiro do Norte, Ceara state (Erlane Ribeiro, personal communication), and cystic fibrosis (OMIM #219700) in different areas of the state of Bahia [14].…”

Section: Brazil: Country Reportmentioning

confidence: 99%

Brazil: Public Health Genomics

Castilla

Luquetti²

2008

Public Health Genomics

View full text Add to dashboard Cite

Brazil represents half of South America and one third of Latin America, having more than 186 million inhabitants. After China and India it is the third largest developing country in the world. The wealth is unequally distributed among the states and among the people. Brazil has a large and complex health care system. A Universal Public Health System (SUS: Sistema SPACEnico de Saúde) covers the medical expenses for 80% of the population. The genetic structure of the population is very complex, including a large proportion of tri- hybrid persons, genetic isolates, and a panmictic large majority. Genetic services are offered at 64 genetic centers, half of them public and free. Nationwide networks are operating for inborn errors of metabolism, oncogenetics, and craniofacial anomalies. The Brazilian Society of Medical Genetics (SBGM) has granted 120 board certifications since 1986, and 7 recognized residences in medical genetics are operating in the country. Three main public health actions promoted by the federal government have been undertaken in the last decade, ultimately aimed at the prevention of birth defects. Since 1999, birth defects are reported for all 3 million annual live births, several vaccination strategies aim at the eradication of rubella, and wheat and maize flours are fortified with folic acid. Currently, the government distributes over 2 million US dollars to finance 14 research projects aimed at providing the basis for the adequate prevention and care of genetics disorders through the SUS. Continuity of this proactive attitude of the government in the area of genomics in public health is desired.

show abstract

“…Furthermore, geographic clusters of some single gene diseases in Brazil have been known about for many decades. The pioneer publications include the studies of new mutations for Grebe’s achondrogenesis (OMIM #200700) in the state of Bahia (Quelce-Salgado, 1964); acheiropodia (OMIM #200500) in the state of Minas Gerais (Freire-Maia, 1975, 1981); and oculo-cutaneous albinism (OMIM #203200) in Ilha dos Lençóis (Freire-Maia et al , 1978). Nevertheless, no systematic survey of genetically isolated populations, and/or geographic clusters of genetic disorders, has ever been performed in Brazil on a nationwide level.…”

Section: Introductionmentioning

confidence: 99%

[No Title Available]

Castilla¹,

Schüler‐Faccini

2014

Genet. Mol. Biol.

View full text Add to dashboard Cite

Here we propose a registration process for population genetic isolates, usually geographic clusters of genetic disorders, based on the systematic search of rumors, defined as any type of account regardless of its reliability. Systematically ascertained rumors are recorded, and validated through a progressive process of pre-established steps. This paper outlines the conceptual basis for this approach and presents the preliminary results from a rumor-based nationwide registry of genetically isolated populations, named CENISO (Censo Nacional de Isolados), operating in Brazil since 2009. During the first four years of its existence (2009–2013), a total of 191 Rumors were registered and validated, resulting in a prevalence rate of one per million inhabitants of Brazil. When the five statutory geographic regions of Brazil were considered, more Rumors were registered for the Northeast (2.11; 1.74–2.54 per 106) than for the remaining four regions, North, Center-West, Southeast, and South, which did not differ among themselves. About half (86/191) of the recorded rumors were proven to be geographic clusters; of these disorders, 58 were autosomal recessive, 17 autosomal dominant, 5 X-linked, 3 multifactorial, and one environmental (thalidomide embryopathy).

show abstract

Genetic Investigations in a Northern Brazilian Island

Cited by 12 publications

References 0 publications

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge

Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge

Brazil: Public Health Genomics

[No Title Available]

Contact Info

Product

Resources

About