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[TBX5 mutation in Chinese patients with Holt-Oram syndrome]
1Department of Cardiothoracic Surgery, the Second Affiliated Hospital, Hunan Medical University, Changsha, Hunan, P. R. China. markzhou@public.cs.hn.cn
Objective:
To analyse TBX5 mutation in Chinese patients with Holt-Oram syndrome(HOS).
Methods:
Seven HOS families were analysed with single strand conformation polymorphism(SSCP) and sequencing.
Results:
Three SSCP changes were detected and identified as the TBX5 gene mutation at three new sites. One of the changes is a frameshift mutation caused by a base cytidine deletion at the cDNA sequence of 416, which altered all the codons after the point, thus it can not encode the protein of normal amino acid sequence; another is a missense mutation induced by a base substitution(C-->A) at the cDNA sequence of 145, which made the codon of that point change from CAG-->AAG, and encoded amino acid changed from glutamine(Gln) to lysine(Lys), consequently the change weakened the function of TBX5 protein; the third is also a missense mutation which resulted from a base substitution (T-->C) at the cDNA sequence of 161, this change made the codon of that point change from ATC-->ACC, it changed the encoded amino acid from isoleucine(Ile) to threonine(Thr), which reduced the function of TBX5 protein.
Conclusion:
HOS in Chinese is caused by mutation in TBX5.