Study of SMN gene in Chinese children with spinal muscular atrophy / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 539-543, 2010.
Artículo
en Chino
| WPRIM
| ID: wpr-347548
ABSTRACT
<p><b>OBJECTIVE</b>To study the incidence of homozygous absence of SMN1 exons 7 and 8, SMN gene conversion frequency and SMN subtle mutations in children with spinal muscular atrophy (SMA).</p><p><b>METHODS</b>The homozygous deletion was detected by PCR-RFLP in 106 Chinese children with SMA, gene conversion by RFLP and subtle mutations by sequencing.</p><p><b>RESULTS</b>The rate of deletion of SMN1 exons 7 and/or 8 was 91.5%. Deletion of SMN1 exon 8 but existence of exon 7 was noted in one child with SMA. There were no significant differences in the gene conversion frequency among children with different types of SMA and who had homozygous deletion of SMN1 exon 7 but existence of exon 8. The gene conversion frequency was 8.3% in children with homozygous deletion of SMN1 exon 7. No subtle mutations were found around SMN1 exon 7.</p><p><b>CONCLUSIONS</b>Deletion of SMN1 exons 7 and/or 8 is the main cause of SMA in Chinese children. There exists a SMN gene conversion phenomenon in SMA. Deletion of exon 8 might lead to SMA. The hot area of subtle mutations of this disease might not be around SMN1 exon 7.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Atrofia Muscular Espinal
/
Eliminación de Gen
/
Repeticiones de Microsatélite
/
Proteína 1 para la Supervivencia de la Neurona Motora
/
Conversión Génica
/
Genética
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2010
Tipo del documento:
Artículo
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