Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China

Spinocerebellar ataxia type 3/Machado-Joseph disease （SCA3/MJD） is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in...

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Published in中国神经再生研究：英文版 Vol. 6; no. 26; pp. 2047 - 2049
Main Author Lifang Lei Junling Wang Shen Zhang Hong Jiang Lu Shen Qian Xu Xinxiang Yan Yi Yuan Qian Pan Kun Xia Beisha Tang
Format Journal Article
LanguageEnglish
Published 2011
Subjects
CAG重复
三核苷酸重复
中国大陆
产前诊断
小脑
神经系统疾病
脊髓
调型
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Summary:Spinocerebellar ataxia type 3/Machado-Joseph disease （SCA3/MJD） is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in mainland China in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.
Bibliography:prenatal diagnosis; spinocerebellar ataxia type 3/Machado-Joseph disease; CAG-trinucleotide repeats; genetic counseling
Spinocerebellar ataxia type 3/Machado-Joseph disease （SCA3/MJD） is a progressive, currently untreatable and ultimately fatal ataxic disorder that belongs to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Here, we present the first prenatal diagnosis of SCA3/MJD in mainland China in a woman who was known to carry an expanded CAG-trinucleotide repeat in the MJD1 gene. After evaluating motivation and psychological tolerance of the couple, amniocentesis was performed after 14 weeks of gestation. Polymerase chain reactions followed by T-vector cloning and direct sequencing were employed to evaluate the CAG-repeat number of the fetal MJD1 gene. We identified a truncated CAG expansion of 78 repeats in the MJD1 gene of the fetus compared with 81 repeats in his mother.
11-5422/R
ISSN:1673-5374
DOI:10.3969/j.issn.1673-5374.2011.26.009