Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea
s.l; s.n; 2003. 5 p. tab.
Non-conventional
em En
| SES-SP, HANSEN, HANSENIASE, SESSP-ILSLACERVO, SES-SP
| ID: biblio-1240969
Biblioteca responsável:
BR191.1
Localização: [{"text": "BR191.1", "_a": "09125/s"}]
ABSTRACT
Interleukin-12 receptor beta 1 ( IL12RB1), interleukin-12 receptor beta 2 ( IL12RB2), and interferon gamma receptor 1 ( IFNGR1) perform important roles in the host defense against intracellular pathogens such as Mycobacteria. Several mutations within their genes have been confirmed as associated with increased susceptibility to mycobacterial infection. However, the association between mutations of the IL12RB1, IL12RB2, and IFNGR1 encoding genes and lepromatous leprosy has not been studied. This study screened for polymorphisms within IL12RB1, IL12RB2, and IFNGR1 encoding genes in the Korean populations using polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) DNA sequencing assay, and an association study was performed using the missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), and 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14M), and 1443 T/C (L467P) for the IFNGR1 encoding genes. There were no differences in the genotype and allele frequencies of IL12RB1 and IFNGR1 genes between 93 lepromatous leprosy patients and 94 control subjects. In conclusion, missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14 M), and 1443 T/C (L467P) of the IFNGR1 encoding genes have no association with the susceptibility to lepromatous leprosy in the Korean population.
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Coleções:
06-national
/
BR
Base de dados:
HANSEN
/
HANSENIASE
/
SES-SP
/
SESSP-ILSLACERVO
Assunto principal:
Hanseníase Virchowiana
/
Receptores de Interferon
/
Receptores de Interleucina
/
Predisposição Genética para Doença
/
Mutação de Sentido Incorreto
/
Coreia (Geográfico)
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Non-conventional
País de publicação:
Estados Unidos