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Updated: Aug 20, 2026
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene]
Bing-shou Xie1, Shuang Xie, Ping Chen
1Wenzhou 3rd People's Hospital, Wenzhou 325000, China.
Objective:
To identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.
Methods:
Genomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing.
Results:
The mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.
Conclusion:
The hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.
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