Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly.
- Author:
Yan LI
1
;
Qian XIN
;
Shan SHAN
;
Jiangxia LI
;
Qiji LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; China; DNA Mutational Analysis; Exons; Female; Genes, Dominant; Homeodomain Proteins; genetics; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Syndactyly; genetics; Transcription Factors; genetics
- From: Chinese Journal of Medical Genetics 2015;32(4):481-484
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation in a Chinese family affected with autosomal-dominant synpolydactyly and to provide the basis for prenatal diagnosis.
METHODSInheritance 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.
RESULTSA 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.
CONCLUSIONA polyalanine-expansion within the HOXD13 probably underlies the disease in this family.
