Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 277-280, 2005.
Artigo
em Inglês
| WPRIM
| ID: wpr-321107
ABSTRACT
<p><b>OBJECTIVE</b>To study the clinical features and to identify homeobox D13 (HOXD13) gene mutation of the affected individuals in a Chinese synpolydactyly (SPD) kindred.</p><p><b>METHODS</b>Clinical data and peripheral blood samples of SPD family members were obtained through field investigation. For every member of this pedigreeìthe fragment containing mutational hot spots of HOXD13 was amplified by PCR for mutation screening. To examine whether there is any other mutation within coding sequence of HOXD13, exon 1 and exon 2 of HOXD13 were also amplified by PCR. All the amplified fragments were electrophoresed on 2% agarose gels and then the mutant fragments were electrophoresed on 5% polyacrylamide gels to be separated. Purified PCR products of normal and selected mutant alleles were directly sequenced.</p><p><b>RESULTS</b>Comparing the HOXD13 coding sequence of the affected individuals with HOXD13 sequence in the GenBank and with that of the unaffected, an inserted segment coding 8 alanine residues within HOXD13 was found segregating with the disorder. This mutation is also termed polyalanine expansion. The 8-alanine expansion can be interpreted as a reduplication of normal alanines 5-12.</p><p><b>CONCLUSION</b>The results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fatores de Transcrição
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Reação em Cadeia da Polimerase
/
Sindactilia
/
Proteínas de Homeodomínio
/
Genética
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2005
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS