Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 63-65, 2008.
Article
de Zh
| WPRIM
| ID: wpr-229819
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.</p><p><b>RESULTS</b>Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.</p><p><b>CONCLUSION</b>All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
/
Analyse de mutations d'ADN
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Séquence nucléotidique
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Études cas-témoins
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Exons
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Alignement de séquences
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Pemphigus chronique bénin familial
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Délétion de séquence
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Calcium-Transporting ATPases
/
Codon non-sens
Type d'étude:
Diagnostic_studies
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Observational_studies
Limites du sujet:
Adult
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Female
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Humans
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Male
langue:
Zh
Texte intégral:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Année:
2008
Type:
Article