β-thalassemia mutations in the Portuguese population
Coutinho Gomes, M. P. ; Gomes da Costa, M. G. ; Braga, L. B. ; Cordeiro-Ferreira, N. T. ; Loi, A. ; Pirastu, M. ; Cao, A.
Springer
Published 1988
Springer
Published 1988
| ISSN: |
1432-1203
|
|---|---|
| Source: |
Springer Online Journal Archives 1860-2000
|
| Topics: |
Biology
Medicine
|
| Notes: |
Summary In this study we have carried out haplotype analysis on the β-globin gene cluster and characterized the β-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/β-thalassemia originating from southern Portugal. We found that three mutations, namely the β°-39, β° IVS-1 nt 1 and β+ IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the β-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the β° mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal.
|
| Type of Medium: |
Electronic Resource
|
| URL: |
| _version_ | 1798295621894930432 |
|---|---|
| autor | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. |
| autorsonst | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. |
| book_url | http://dx.doi.org/10.1007/BF00291226 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM205618634 |
| issn | 1432-1203 |
| journal_name | Human genetics 〈Berlin〉 |
| materialart | 1 |
| notes | Summary In this study we have carried out haplotype analysis on the β-globin gene cluster and characterized the β-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/β-thalassemia originating from southern Portugal. We found that three mutations, namely the β°-39, β° IVS-1 nt 1 and β+ IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the β-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the β° mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal. |
| package_name | Springer |
| publikationsjahr_anzeige | 1988 |
| publikationsjahr_facette | 1988 |
| publikationsjahr_intervall | 8014:1985-1989 |
| publikationsjahr_sort | 1988 |
| publisher | Springer |
| reference | 78 (1988), S. 13-15 |
| search_space | articles |
| shingle_author_1 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. |
| shingle_author_2 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. |
| shingle_author_3 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. |
| shingle_author_4 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. |
| shingle_catch_all_1 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. β-thalassemia mutations in the Portuguese population Summary In this study we have carried out haplotype analysis on the β-globin gene cluster and characterized the β-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/β-thalassemia originating from southern Portugal. We found that three mutations, namely the β°-39, β° IVS-1 nt 1 and β+ IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the β-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the β° mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal. 1432-1203 14321203 Springer |
| shingle_catch_all_2 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. β-thalassemia mutations in the Portuguese population Summary In this study we have carried out haplotype analysis on the β-globin gene cluster and characterized the β-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/β-thalassemia originating from southern Portugal. We found that three mutations, namely the β°-39, β° IVS-1 nt 1 and β+ IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the β-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the β° mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal. 1432-1203 14321203 Springer |
| shingle_catch_all_3 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. β-thalassemia mutations in the Portuguese population Summary In this study we have carried out haplotype analysis on the β-globin gene cluster and characterized the β-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/β-thalassemia originating from southern Portugal. We found that three mutations, namely the β°-39, β° IVS-1 nt 1 and β+ IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the β-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the β° mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal. 1432-1203 14321203 Springer |
| shingle_catch_all_4 | Coutinho Gomes, M. P. Gomes da Costa, M. G. Braga, L. B. Cordeiro-Ferreira, N. T. Loi, A. Pirastu, M. Cao, A. β-thalassemia mutations in the Portuguese population Summary In this study we have carried out haplotype analysis on the β-globin gene cluster and characterized the β-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/β-thalassemia originating from southern Portugal. We found that three mutations, namely the β°-39, β° IVS-1 nt 1 and β+ IVS-1 nt 110 are prevalent accounting for 53%, 32% and 10% of the β-thalassemia chromosomes respectively. In general each mutation was associated with a specific chromosomal haplotype; the β° mutation, however, was linked to three different haplotypes. These results indicate that three oligo-probes complementary to the most common mutations allow prenatal diagnosis by oligonucleotide analysis in 96% of the couples at risk of having offspring with thalassemia major in southern Portugal. 1432-1203 14321203 Springer |
| shingle_title_1 | β-thalassemia mutations in the Portuguese population |
| shingle_title_2 | β-thalassemia mutations in the Portuguese population |
| shingle_title_3 | β-thalassemia mutations in the Portuguese population |
| shingle_title_4 | β-thalassemia mutations in the Portuguese population |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:07.058Z |
| titel | β-thalassemia mutations in the Portuguese population |
| titel_suche | β-thalassemia mutations in the Portuguese population |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM205618634 |