Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 189-191, 2005.
Article
en Zh
| WPRIM
| ID: wpr-321130
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).</p><p><b>METHODS</b>PANK2 gene mutations were detected by PCR, DNA sequence analyses, restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons.</p><p><b>RESULTS</b>Novel compound heterozygous PANK2 gene mutations, A803G and T1172A, in exons 3 and 5, respectively, were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5'-UTR, IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a, IVS1+42 c>a, were first reported.</p><p><b>CONCLUSION</b>PANK2 gene mutations can cause HSS in Chinese patients.</p>
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Índice:
WPRIM
Asunto principal:
Linaje
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Análisis Mutacional de ADN
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Secuencia de Bases
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China
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Reacción en Cadena de la Polimerasa
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Fosfotransferasas (Aceptor de Grupo Alcohol)
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Polimorfismo Conformacional Retorcido-Simple
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Genética
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Neurodegeneración Asociada a Pantotenato Quinasa
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Mutación
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2005
Tipo del documento:
Article