Rapid prenatal diagnosis of spinocerebellar ataxia type 3 by using fluorescent PCR
Journal of Genetic Medicine
;
: 84-87, 2007.
Artigo
em Inglês
| WPRIM
| ID: wpr-33494
ABSTRACT
Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age at onset of disease is related to the size of the expanded CAG repeat. We present the prenatal diagnosis of SCA3 in a woman whose husband was known to carry an unstable CAG repeat expansion in the MJD gene. The diagnosis was made using PCR with a fluorescent probe for an expanded MJD allele. The normal ranges of (CAG)n of SCA3 are 14~38 repeats. The husband, who had a family history of SCA3, has an expanded allele of 69 CAG repeats with a normal allele of 27 repeats. His wife had two normal alleles with 26 and 32 CAG repeats. The fetus had two normal alleles with 26 and 27 CAG repeats; consequently, the baby was healthy. We report a case of prenatal diagnosis of SCA3 using a fluorescent PCR which is rapid and accurate.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2007
Tipo de documento:
Artigo
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