Description of a Rare β-Globin Gene Mutation: -86 (CG) (HBB: c.-136CG) Observed in a Syrian Family
| Autor: | Faten Moassas, Hossam Murad, Ayman Alabloog |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Clinical Biochemistry
β globin gene beta-Globins Biology Polymerase Chain Reaction 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis Rare mutations Humans Family Lebanon Promoter Regions Genetic Genetics (clinical) Genetics Syria Biochemistry (medical) beta-Thalassemia Hematology Haplotypes 030220 oncology & carcinogenesis Mutation Female Polymorphism Restriction Fragment Length 030215 immunology |
| Zdroj: | Hemoglobin. 42(3) |
| ISSN: | 1532-432X |
| Popis: | We present the description of a β-thalassemia (β-thal) -86 (CG) (HBB: c.-136CG) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mother in a homozygous state, while it was in the father and in the amniotic fluid sample in a heterozygous state. This mutation is located at -86 within the proximal CACCC box in the promoter of the β-globin gene and is possibly linked with a phenotype of β |
| Databáze: | OpenAIRE |
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