Tri-primer-florescence PCR-Sanger sequencing method for screening of full and pre-mutations of FMR1 gene.
- Author:
Sha SHA
1
,
2
,
3
;
Xue HE
;
Dongya YUAN
;
Jianfang ZHANG
;
Longli KANG
Author Information
- Publication Type:Journal Article
- MeSH: DNA Primers; genetics; Female; Fluorescence; Fragile X Mental Retardation Protein; genetics; Fragile X Syndrome; genetics; Humans; Male; Mutation; genetics; Polymerase Chain Reaction; methods
- From: Chinese Journal of Medical Genetics 2016;33(6):844-848
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen for CGG repeats in the FMR1 gene among patients with fragile X syndrome and carriers of pre-mutations.
METHODSPotential full and pre-mutations of the FMR1 gene were detected with a Tri-primer-florescence PCR-Sanger sequencing method. The results were validated with positive and negative controls.
RESULTSAll positive and negative controls were confirmed. A male patient was found to have > 200 CGG repeats (full mutation). For a pregnant women who was heterozygous for 35/115 CGG repeats, > 200 CGG repeats were also found with amniotic fluid sample from her fetus who was a male. The result was confirmed by following selective abortion with informed consent.
CONCLUSIONTri-primer-florescence PCR-Sanger sequencing is a simple, effective and reliable method for routine screening of patients/carriers with full/pre-mutations of the FMR1 gene in the population.
