Interaction of Chromosomes bearing 1, 2 or 3 α-Globin genes in an american black family with α-thalassemia
| Autor: | Gwendolyn B. Sancar, R. Bellevue, Marisol M. Cedeno, R. F. Rieder |
|---|---|
| Rok vydání: | 1982 |
| Předmět: |
Genetics
Biochemistry (medical) Clinical Biochemistry Hematology Biology Molecular biology Globins Chromosome 17 (human) Phenotype Chromosome 16 Chromosome 4 Chromosome 3 Chromosome 18 hemic and lymphatic diseases Chromosome 19 Humans Thalassemia Chromosome 21 Genetics (clinical) Chromosome 12 Chromosomes Human 16-18 |
| Zdroj: | Hemoglobin. 6:99-114 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | Utilizing restriction endonuclease mapping and molecular hybridization we have determined the number and arrangement of the alpha-globin genes in members of an American Black family in which alpha-thalassemia is present. In addition to chromosomes bearing 0, 1 or 2 alpha-genes, an unusual chromosome bearing 3 alpha-globin genes was detected in 3 family members. In 2 family members the 3 alpha-globin gene chromosome was present opposite a chromosome containing a single alpha-globin gene; these cases represent the first reports of the alpha alpha alpha/-alpha genotype. The presence of the stigmata of "mild" alpha-thalassemia trait in one of these subjects indicates that the 3 alpha-gene chromosome probably does not direct the synthesis of significantly more alpha-globin chains than does the 2 alpha-gene chromosome. |
| Databáze: | OpenAIRE |
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