[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].
Zhonghua Yi Xue Za Zhi
; 92(4): 254-8, 2012 Jan 31.
Article
em Zh
| MEDLINE
| ID: mdl-22490798
ABSTRACT
OBJECTIVE:
To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family.METHODS:
Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplification techniques (PCR-Walking), multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family.RESULTS:
A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 (± 2) to c.885 + 4923 (± 2). The patient was homozygous for deletion mutation.CONCLUSION:
A large deletion mutation was first detected and identified in OCA4.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
/
Albinismo Oculocutâneo
/
Deleção de Sequência
/
Consanguinidade
/
Antígenos de Neoplasias
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2012
Tipo de documento:
Article