Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 677-680, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-229846
ABSTRACT
<p><b>OBJECTIVE</b>To screen all ten genes between D15S971 and D15S1012 in five Chinese families with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).</p><p><b>METHODS</b>DNA samples from 5 HSP-TCC families were screened for mutations in AK128197, MGC14798, HH114, MEIS2, MGC35118, SPRED1, AK128458, FLJ38426, RASGRP1 and AK093014 on chromosome 15q13-15 between microsatellites D15S971 and D15S1012 by polymerase chain reaction, direct sequencing and cosegreagation analysis.</p><p><b>RESULTS</b>No disease-causing mutations were found in the 10 genes, but 13 polymorphisms were identified in which two were novel.</p><p><b>CONCLUSION</b>This study did not support the ten genes between D15S971 and D15S1012 were the disease-causing genes of the 5 HSP-TCC families.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Cromossomos Humanos Par 15
/
Paraplegia Espástica Hereditária
/
Corpo Caloso
/
Paraparesia Espástica
/
Povo Asiático
/
Genes Recessivos
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2007
Tipo de documento:
Artigo
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