الفهرس 
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Abstract
Detection of NKX2.5 gene mutations in patients with isolated atrial septal defect
Ghada Mohamed shehata
The objective of this study is to screen for mutations in the NKX2.5 gene in patients affected by isolated non-syndromic atrial septal defects (ASD) in order to assess the role of NKX2.5 mutations in causing these defects.
The study included 25 unrelated patients with isolated non-syndromic ASD. Control group was 10 normal persons who had no personal or family history of any congenital heart diseases. Screening for hot spots for mutations was done using PCR-SSCP (Single stranded conformation polymorphism) and restriction enzyme assay for the analysis of two exons in four fragments( 1A, 1B, 2A& 2B). DNA sequencing analysis was done for samples with abnormal electrophoretic mobility in SSCP.
Mutation analysis using restriction enzyme assay identified mutation in 3 out of the 25 cases (12%) (Thr178 Met, Asn188 Lys) in the homeodomain . And polymorphism (silent mutation) in 2 of the 25 cases in exon 1(8%), by DNA sequencing analysis of cases having abnormal migration pattern by SSCP method. It can also be concluded from the current study that, SSCP is not a sensitive method for screening of mutations and direct DNA sequencing and / or restriction enzyme analysis should be used for detection of mutations. Also screening of mutations in NKX2.5 gene in familial cases of ASD is needed to identify a possible diagnostic tool for carrier detection and prenatal diagnosis of CHDs
Key words
-Atrial septal defect - NKX2.5 -Point mutation -Transcription factors