Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1161-1164, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-274074
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Telangiectasia, Hereditary Hemorrhagic
/
Polymerase Chain Reaction
/
Exons
/
Codon, Nonsense
/
Mutation
Limits:
Humans
Language:
Chinese
Journal:
Journal of Experimental Hematology
Year:
2015
Type:
Article
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