Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome
| Autor: | Raouf Hafsia, Meriem Oueslati, Salem Abbes, Nawel Trabelsi, Wijdene Elborgi, Dorra Chaouachi, Imen Boudriga, Faten Haddad, Imen Darragi, Leila Chaouch, Houyem Ouragini |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Tunisia Polyadenylation Clinical Biochemistry beta-Globins 03 medical and health sciences Genotype medicine Humans Globin Glucuronosyltransferase Gene Genetics (clinical) Polymerase Genetics biology Biochemistry (medical) Haplotype beta-Thalassemia Promoter RNA 3' Polyadenylation Signals Hematology Middle Aged medicine.disease Gilbert's syndrome 030104 developmental biology Mutation biology.protein Gilbert Disease |
| Zdroj: | Hemoglobin. 41(2) |
| ISSN: | 1532-432X |
| Popis: | We report here the clinical, hematological and molecular data in a 50-year-old patient with β-thalassemia intermedia (β-TI) caused by a homozygous β+ mutation on the β-globin gene polyadenylation (polyA) signal (AATAAA>AAAAAA). β Haplotype analysis was accomplished by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype and framework analysis showed that this mutation is associated with the [- - - - + + +] β haplotype and framework 1 (CCGCT) (FW1). This mutation was previously reported in the heterozygous state in association with the codon 9 (+TA) mutation in a β-TI patient originating from Tunisia. To the best of our knowledge, this is the first report describing this mutation in the homozygous state. The case reported here, coinherited Gilbert's syndrome, which is characterized by hyperbilirubinemia. This conclusion was reached by the investigation of the promoter region [A(TA)nTAA] motif of the UGT1A1 gene, showing the (TA)6/(TA)7 genotype. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |