1.
Clin Rheumatol
; 19(4): 262-4, 2000.
Artigo
em Inglês
| MEDLINE
| ID: mdl-10941804
RESUMO
Co-occurrent autoimmune disease and fragile X syndrome has been reported in the literature and we have therefore studied the expansion of Cytosine-Guanine-Guanine (CGG) repeat in FMR1 gene in a series of females with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome, with PCR and Southern blot methods. The average length of trinucleotide repeat was not increased in these female patients as compared with controls. These preliminary data on a short series of patients suggest a possible absence of trinucleotide repeat expansion abnormality associated with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome.
Assuntos
Síndrome do Cromossomo X Frágil/genética , Lúpus Eritematoso Sistêmico/genética , Síndrome de Sjogren/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Idoso , Alelos , Southern Blotting , Feminino , Homozigoto , Humanos , Pessoa de Meia-Idade , Mutação , Reação em Cadeia da Polimerase , Polimorfismo Genético
2.
Am J Med Genet
; 78(3): 242-4, 1998 Jul 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-9677058