Objective: To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree.
Methods: 14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing.
Results: A nonsense mutation c.447G > A was found in exon 4 of ENG gen of the pedigreee, resulting in change of Trp 149 into Stop, while no gene mutation was found in ALK1 gene.
Conclusion: The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.
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| http://dx.doi.org/10.7534/j.issn.1009-2137.2015.04.049 | DOI Listing |
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