Steroid sulfatase gene mutation in a Chinese pedigree with X-linked ichthyosis / 中华皮肤科杂志
Chinese Journal of Dermatology
;
(12): 203-204, 2011.
Artículo
en Chino
| WPRIM
| ID: wpr-413658
ABSTRACT
Objective To detect the steroid sulfatase (STS) gene mutation in a Chinese pedigree with X-linked ichthyosis (XLI). Methods Genomic DNA was extracted from the peripheral blood of 3 affected patients and unaffected members in this family and 50 unrelated healthy volunteers followed by the amplification of the exon 1 and exon 10 of STS gene by PCR. Results Complete deletion of the exon 1 to 10 of STS gene was detected in all the patients in this pedigree with XLI, while no mutation was found in this gene in unaffected members of this family or normal human controls. Conclusion The complete deletion of STS gene is likely to be the main cause of the phenotype of XLI in this family.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Dermatology
Año:
2011
Tipo del documento:
Artículo
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