Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree / 中国实验血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.</p>