Advances in congenital vertebral malformation caused by genomic copy number variation / 中华外科杂志
Chinese Journal of Surgery
;
(12): 313-316, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-349202
ABSTRACT
Congenital vertebral malformation (CVM) is a congenital vertebral structural deformity caused by abnormal somitogenesis during embryonic development, of which the reason lies in gene mutation or abnormal regulation of the genes that coordinate somitogenesis during embryonic period. ICVAS had proposed a new classification algorithm for CVM, which facilitated exploration for its genetic etiology. Genomic Copy Number Variation (CNV) is a kind of DNA mutation, which is important for human evolution, phenotype polymorphism and diseases. Series of advances have been made on genetic causes of CVM, especially on CVM caused by CNV. CNVs of chromosome 16p11.2, 10q24.31, 17p11.2, 20p11, 22q11.2 and a few other regions are associated with CVM, indicating that gene dosage may play important roles in the development of the spinal cord.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Coluna Vertebral
/
Anormalidades Congênitas
/
Dosagem de Genes
/
Variações do Número de Cópias de DNA
/
Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Surgery
Ano de publicação:
2016
Tipo de documento:
Artigo
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