Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 481-484, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-288049
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family affected with autosomal-dominant synpolydactyly and to provide the basis for prenatal diagnosis.</p><p><b>METHODS</b>Inheritance pattern was determined by clinical examination and pedigree analysis. Blood samples were obtained from members of the family. Genomic DNA was extracted and sequenced following PCR amplification. Suspected mutation was confirmed by subclone sequencing and agarose gel electrophoresis.</p><p><b>RESULTS</b>A 27 bp expansion mutation in exon 1 of HOXD13 was identified in all affected individuals from the family but not in unaffected members and normal controls. The mutation has caused insertion of 9 alanines in the polyalanine-expansion region of HOXD13 protein.</p><p><b>CONCLUSION</b>A polyalanine-expansion within the HOXD13 probably underlies the disease in this family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Transcription Factors
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Exons
/
Syndactyly
/
Homeodomain Proteins
/
Asian People
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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