Application of FMCA in families with enlarge vestibular aqueduct and in prenatal diagnosis
GAO Hui
LIU Jingjing
SHEN Shanshan
LIANG Shaoming
WEI Lingeng
WANG Shayan
Abstract：Objective To report applications of the FMCA technology for testing the SLC26A4 gene in families with bilateral enlarged vestibular aqueduct (EVA) to analyze relations between EVA and SLC26A4 and to determine conditions for optimization of the FMCA technology. Methods Clinical data of EVA families were collected. IVS7-2A>G, 2168A>G, 1229C>T mutations of the SLC26A4 gene in 107 normal controls and 19 subjects from 6 EVA families were analyzed by FMCA technology and results were confirmed with direct DNA sequencing. Results Heterozygous mutations of SLC26A4 were detected in 2 subjects among the 107 normal controls (1.87%). In the EVA families, homozygous mutations of the SLC26A4 gene was detected in 3 subjects, compound heterozygous mutations in 3 subjects and simple heterozygous muta-tions in 10 subjects (84.21%), and 3 subjects showed no mutations. The technology was used in prenatal diagnosis in one family and showed IVS7-2A>G/1229C>T compound heterozygous mutations of the SLC26A4 gene. All results were consis-tent with DNA sequencing. Conclusion Our study shows that FMCA can quickly detect IVS7-2A>G, 2168A>G, 1229C>T mutations of the SLC26A4 gene. Backed by DNA sequencing, our results indicate that FMCA can be used as a fast, econom-ic and effective method in diagnosis of genetic diseases and in prenatal diagnosis.
Keywords：Hereditary hearing lossEnlarge Vestibular AqueductSLC26A4FMCAMelting Curve Analysis Based on Probes
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 536-540 )