Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene / 中华血液学杂志
Chinese Journal of Hematology
; (12): 536-539, 2004.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-291384
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>The mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Pedigree
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Telangiectasia, Hereditary Hemorrhagic
/
DNA Mutational Analysis
/
Base Sequence
/
Antigens, CD
/
Exons
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Point Mutation
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Receptors, Cell Surface
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Codon, Nonsense
Type of study:
Prognostic study
Limits:
Aged
/
Female
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Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2004
Document type:
Article