Uncommon allele in APO AI-CIII-AIV gene cluster in a family with congenital generalized lipodystrophy
São Paulo med. j
;
115(6): 1593-5, nov.-dez. 1997. ilus
Artigo
em Inglês
| LILACS
| ID: lil-209327
RESUMO
Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo Al-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Apolipoproteínas
/
Triglicerídeos
/
Família Multigênica
/
Alelos
/
Lipodistrofia
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
São Paulo med. j
Assunto da revista:
Cirurgia Geral
/
Cincia
/
Ginecologia
/
Medicina
/
Medicina Interna
/
Obstetr¡cia
/
Pediatria
/
Sa£de Mental
/
Sa£de P£blica
Ano de publicação:
1997
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS