Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 905-909, 2019.
Article
en Zh
| WPRIM
| ID: wpr-776778
Biblioteca responsable:
WPRO
ABSTRACT
OBJECTIVE@#To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.@*METHODS@#Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified in other family members and 100 healthy controls. Polyphen-2 and SIFT software were used to predict the effect of the mutation, and Swiss-model software was used to simulate the protein structure.@*RESULTS@#Three patients were found to carry a c.893G>A mutation in exon 8 of the LBR gene, which resulted in substitution of the 298th amino acid residue glycine by glutamic acid (p.Gly298Glu). The same mutation was not found in healthy family members and 100 healthy controls. The mutation was predicted to be damaging. Bioinformatic simulation showed the mutation has altered the 3D structure of the LBR protein.@*CONCLUSION@#The c.893G>A (p.Gly298Glu) mutation in the LBR gene probably underlies the PHA in this pedigree and has enriched the spectrum of LBR gene mutations.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
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Anomalía de Pelger-Huët
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Análisis Mutacional de ADN
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Estudios de Casos y Controles
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Reacción en Cadena de la Polimerasa
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Exones
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Receptores Citoplasmáticos y Nucleares
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Genética
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Mutación
Tipo de estudio:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Article