Molecular and prenatal diagnosis of a pedigree with spinocerebellar ataxia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 320-323, 2010.
Artículo
en Chino
| WPRIM
| ID: wpr-348988
ABSTRACT
<p><b>OBJECTIVE</b>To identify the type of a pedigree with spinocerebellar ataxia, and carry out asymptomatic carrier detection and prenatal diagnosis.</p><p><b>METHODS</b>The blood samples of two patients in the spinocerebellar ataxia pedigree were collected. Based on the clinical characteristics of the pedigree and the disease incidence in China, the regions containing the CAG repeat of the SCA1, SCA2 and SCA3/MJD genes were amplified by polymerase chain reaction (PCR). The numbers of CAG repeats in the normal and abnormal allele fragments were identified by using agarose gel electrophoresis and DNA sequencing. We further carried out tests on the children of the patients and fetus to identify the presence of the abnormal allele.</p><p><b>RESULTS</b>The numbers of CAG repeat in the SCA1 and SCA2 genes were in the normal range. The CAG repeat number in one allele of SCA3/MJD gene was in the normal range, while that in the other allele was in the abnormal range. One of the children of the patients and the fetus carried the abnormal allele.</p><p><b>CONCLUSION</b>It was confirmed that the pedigree was SCA3/MJD by gene diagnosis. One of the children of the patients was asymptomatic carrier and the fetus also carried the abnormal allele.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Diagnóstico Prenatal
/
Proteínas Represoras
/
Proteínas Nucleares
/
Reacción en Cadena de la Polimerasa
/
Predisposición Genética a la Enfermedad
/
Ataxias Espinocerebelosas
/
Ataxina-3
/
Ataxinas
/
Genética
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2010
Tipo del documento:
Artículo
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