Rapid prenatal diagnosis of spinocerebellar ataxia type 3 by using fluorescent PCR.
- Author:
Do Jin KIM
1
;
So Yeon PARK
;
Mi Jin KIM
;
Moon Hee LEE
;
Sung Han SHIM
;
Hyun Mee RYU
Author Information
1. Laboratory of Medical Genetics, Medical Research Institute Cheil General Hospital and Women's Healthcare Center, Seoul, Korea. hmryu@yahoo.com
- Publication Type:Case Report
- Keywords:
Prenatal diagnosis;
Spinocerebellar ataxia Type 3;
Fluorescent probes
- MeSH:
Female;
Humans
- From:Journal of Genetic Medicine
2007;4(1):84-87
- CountryRepublic of Korea
- Language:English
-
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.
