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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Sep 10;36(9):866-869. doi: 10.3760/cma.j.issn.1003-9406.2019.09.003.

[Prenatal diagnosis for 30 women carrying a FMR1 mutation].

[Article in Chinese]

Author information

1
Center for Medical Genetics, School of Life Science, Central South University, Changsha, Hunan 410078, China. duanranhui@sklmg.edu.cn; wulingqian@sklmg.edu.cn.

Abstract

OBJECTIVE:

To determine the CGG repeat number and methylation status of FMR1 gene for fetuses whose mothers have carried a FMR1 mutation.

METHODS:

For 30 pregnant women, the fetal CGG repeat number was determined with a GC-rich PCR system by using chorionic villus, amniotic fluid or umbilical blood samples. The methylation status of the FMR1 gene was confirmed with Southern blotting.

RESULTS:

In total 30 prenatal diagnoses were performed for 29 carriers of FMR1 gene mutations and 1 with FMR1 gene deletion mosaicism. Three fetuses were found to carry premutations, 9 were with full mutations and 1 with mosaicism of premutation and full mutations. Eighteen fetuses were normal.

CONCLUSION:

Considering the genetic complexity of Fragile X syndrome (FXS), single method may not suffice accurate determination of their genetic status. The pitfalls and technical limitations of protocols requires adoption of personalized strategy for its prenatal diagnosis.

[Indexed for MEDLINE]

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