The spectrum of beta-thalassemia mutations in southern Thailand.
Southeast Asian J Trop Med Public Health
;
1995 ; 26 Suppl 1(): 229-34
Artículo
en Inglés
| IMSEAR
| ID: sea-34350
ABSTRACT
Beta-thalassemia mutations in 282 alleles of 253 unrelated individuals originating from various provinces in the south of Thailand were characterized by dot blot hybridization, specific PCR-amplification and direct DNA sequencing. It was possible to characterize the mutations in 274 (97.2%) of alleles studied. Twelve different point mutations and two different large deletions of the beta-globin gene were identified. Seven common mutations, namely 4 bp deletion at codons 41/42. IVS1 position 5 (G-C), codon 19 (AAC-AGC), codon 17 (AAG-TAG), IVS1 position 1 (G-T), position -28 (A-G) and 3.5 kb deletion, accounted for about 91.5%. The mutations at mRNA cap site + 1 (A-C) and IVS1 position 1 (G-A), previously undescribed in Thailand, were found in 1 and 2 individuals, respectively. A novel mutation of 105 bp deletion at the 5' end of beta-globin gene was detected in a family originating from this area. The knowledge from this study should be useful for planning of genetic counseling and prenatal diagnosis programs for patients with beta-thalassemia in the south of Thailand.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Tailandia
/
Humanos
/
Codón
/
Globinas
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Sondas de Oligonucleótidos
/
Reacción en Cadena de la Polimerasa
/
Eliminación de Secuencia
/
Mutación Puntual
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Southeast Asian J Trop Med Public Health
Año:
1995
Tipo del documento:
Artículo
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