Diagnostic strategy of β-thalassemic mutation in a tunisian family, application in prenatal diagnosis;Stratégie diagnostique des mutations β-thalassémiques dans une famille tunisienne, application au diagnostic prénatal

Annales de Biologie Clinique

Volumn 61, Issue 2, 2003, Pages 229-233

  Khelil, A H ^a   Laradi, S ^a,b   Ferchichi, S ^b   Carion, N ^d   Bejaoui M ^e   Saad, A ^b   Chaieb, A ^b   Miled, A ^b   Chibani, J Ben ^a   Perrin, P ^c  

^a UNIVERSITY OF MONASTIR   (Tunisia)

^b FARHAT HACHED HOSPITAL   (Tunisia)

^c UNIVERSITÉ LYON 1   (France)

^d Hôpital Cochin Port Royal ^*  (France)

^e CENTRE NATIONAL DE GREFFE DE MOELLE OSSEUSE   (Tunisia)

Author keywords

thalassemic mutation; ARMS; DGGE; Hemoglobinopathie

Indexed keywords

ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; CHILD; CODON; FEMALE; GENETICS; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; TUNISIA;

ADULT; BASE SEQUENCE; BETA-THALASSEMIA; CHILD; CODON; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; TUNISIA;

EID: 0242416615     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Kyriacou K, Al Quobaili F, Pavlou E, Christopoulos G, Ioannou P, Kleanthous M. Molecular characterization of β-thalassemia in Syria. Hemoglobin 2000; 24: 1-13.
2. El Braiki L. Contribution à l'étude du coût de la prise en charge de la β-thalassémie en Tunisie. Thèse de Doctorat en Medecine, Faculté de médecine de Monastir, 1993.
3. Ghanem N, Girodon E, Vidaud M, Martin J. A comprehensive scanning method for rapid detection of β globin gene mutations and polymorphisms. Human Mutation 1992; 1: 229-39.
4. Fernandez E, Bienvenu T, Desclaux F, Beldjord C. Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent mediterranean β-thalassemic mutations. PCR: methods and applications 1993: 122-4.
5. Laradi S, Haj Khelil A, Omri H, et al. Analyse moléculaire et diagnostic prénatal de la β-thalassémie: à propos de notre expérience en Tunisie centrale. Ann Biol Clin 2000; 58: 453-60.
6. Newton CRG. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 1989; 17: 2503-16.
7. Perrin P, Bouhass R, Mselli L, et al. Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: implications for their origin. Gene 1998; 213: 169-77.
8. Chibani J, Vidaud M, Duquesnoy P, et al. The peculiar spectrum of β-thalassemia genes in Tunisia. Hum Genet 1988; 78: 190-2.
9. Fattoum S, Guemira F, Oner C. β-thalassemia, HbS-β thalassemia and sickle cell anemia among Tunisians. Hemoglobin 1991; 15: 1-9.
10. es journées biologiques. Hammamet: Association tunisienne des sciences biologiques, 20-23 mars 2002.