| Title |
The frequency and origin of the sickle cell mutation in the district of Coruche/Portugal
|
|---|---|
| Published in |
Human Genetics, June 1989
|
| DOI | 10.1007/bf00291165 |
| Pubmed ID | |
| Authors |
C. Monteiro, J. Rueff, A. B. Falcao, S. Portugal, D. J. Weatherall, A. E. Kulozik |
| Abstract |
The frequency of the beta S mutation in the district of Coruche/Portugal is estimated to be about 4% from analysis of a group of 181 school children and their teachers in an area in which malaria has been endemic until recently. Several white Portuguese patients with sickle cell disease (six homozygous SS and one S beta degree thalassaemia) were found in a group of 309 further patients who were known and followed up by local medical practitioners. These patients had clinical and haematological features similar to patients of African origin, although their growth and sexual development appeared to be normal. The analysis of an array of polymorphic restriction sites within the beta S globin gene cluster (beta S haplotype) showed patterns that are known to occur in Africa. The frequencies of the three main African beta S haplotypes termed Senegal, Bantu, and Benin reflect the extent of Portuguese naval explorations. It is concluded that the sickle cell gene in Portugal has probably been imported from Africa and has been amplified in comparison with other genes characteristic for African races because of the selective advantage of AS heterozygotes in an area endemic for malaria. |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Portugal | 1 | 4% |
| Unknown | 24 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 8 | 32% |
| Other | 3 | 12% |
| Researcher | 2 | 8% |
| Professor | 2 | 8% |
| Student > Doctoral Student | 1 | 4% |
| Other | 5 | 20% |
| Unknown | 4 | 16% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 24% |
| Biochemistry, Genetics and Molecular Biology | 4 | 16% |
| Agricultural and Biological Sciences | 3 | 12% |
| Social Sciences | 2 | 8% |
| Sports and Recreations | 1 | 4% |
| Other | 3 | 12% |
| Unknown | 6 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 25 November 2009.
All research outputs
#7,454,427
of 22,789,566 outputs
Outputs from Human Genetics
#933
of 2,953 outputs
Outputs of similar age
#4,165
of 14,882 outputs
Outputs of similar age from Human Genetics
#4
of 16 outputs
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