首页|期刊导航|中国神经再生研究（英文版）|Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China A case report
中国神经再生研究（英文版）2011，Vol.6Issue(26)：2047-2049,3.DOI:10.3969/j.issn.1673-5374.2011.26.009
Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China A case report
Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China A case report
摘要
Abstract
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.关键词
prenatal diagnosis/spinocerebellar ataxia type 3/Machado-Joseph disease/CAG-trinucleotide repeats/genetic counselingKey words
prenatal diagnosis/spinocerebellar ataxia type 3/Machado-Joseph disease/CAG-trinucleotide repeats/genetic counseling引用本文复制引用
Lifang Lei,Kun Xia,Beisha Tang,Junling Wang,Shen Zhang,Hong Jiang,Lu Shen,Qian Xu,Xinxiang Yan,Yi Yuan,Qian Pan..Prenatal diagnosis of spinocerebellar ataxia type 3/Machado-Joseph disease in mainland China A case report[J].中国神经再生研究（英文版）,2011,6(26):2047-2049,3.基金项目
grants from the National Science and Technology Pillar Program in the Eleventh Five-year Plan Period,No.2006BAI05A07 （）
the Major State Basic Research Development Program of China (973 Program),No.2006cb500700 （973 Program）
the National Key Technologies Research and Development Program of China,No.2004BA720A03 （）
the National Natural Science Foundation of China,No.30871354,30710303061 and 30470619 （）
the Key Project in the Natural Science Foundation of Hunan Province,No.08JJ3048 （）
the Natural Science Foundation of Hunan Province,No.11JJ5071 （）
the Science and Technology Planning Project of Hunan Province,No.2009SK3172 （）
the Graduate Degree Thesis Innovation Foundation of Central South University,No.2008yb030 （）
