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1.
Am J Hum Genet ; 67(6): 1382-8, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11078474

RESUMO

Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphedema of the limbs, with variable age at onset, and double rows of eyelashes (distichiasis). Other complications may include cardiac defects, cleft palate, extradural cysts, and photophobia, suggesting a defect in a gene with pleiotrophic effects acting during development. We previously reported neonatal lymphedema, similar to that in Turner syndrome, associated with a t(Y;16)(q12;q24.3) translocation. A candidate gene was not found on the Y chromosome, and we directed our efforts toward the chromosome 16 breakpoint. Subsequently, a gene for LD was mapped, by linkage studies, to a 16-cM region at 16q24.3. By FISH, we determined that the translocation breakpoint was within this critical region and further narrowed the breakpoint to a 20-kb interval. Because the translocation did not appear to interrupt a gene, we considered candidate genes in the immediate region that might be inactivated by position effect. In two additional unrelated families with LD, we identified inactivating mutations-a nonsense mutation and a frameshift mutation-in the FOXC2 (MFH-1) gene. FOXC2 is a member of the forkhead/winged-helix family of transcription factors, whose members are involved in diverse developmental pathways. FOXC2 knockout mice display cardiovascular, craniofacial, and vertebral abnormalities similar to those seen in LD syndrome. Our findings show that FOXC2 haploinsufficiency results in LD. FOXC2 represents the second known gene to result in hereditary lymphedema, and LD is only the second hereditary disorder known to be caused by a mutation in a forkhead-family gene.


Assuntos
Proteínas de Ligação a DNA/genética , Ligação Genética/genética , Linfedema/genética , Mutação/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Sequência de Bases , Criança , Cromossomos Humanos Par 16/genética , Fissura Palatina/genética , Análise Mutacional de DNA , Edema/genética , Feminino , Fatores de Transcrição Forkhead , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Fotofobia/genética , Mapeamento Físico do Cromossomo , Síndrome
2.
Genome Res ; 6(7): 633-8, 1996 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8796351

RESUMO

A PCR method for uniform amplification of a mixture of DNA templates differing in GC content is described using the two enzyme approach (Klentaq1 and Pfu DNA polymerase) and a combination of DMSO and betaine. This method was applied to amplify the CGG repeat region from the fragile X region.


Assuntos
Composição de Bases , DNA/genética , Reação em Cadeia da Polimerase/métodos , Betaína , Proteínas de Transporte/genética , DNA/química , DNA Polimerase Dirigida por DNA , Dimetil Sulfóxido , Feminino , Síndrome do Cromossomo X Frágil/genética , Humanos , Complexo Principal de Histocompatibilidade/genética , Masculino , Proteínas de Membrana/genética , Dados de Sequência Molecular , Transportador 1 de Cátions Orgânicos , Receptores da Transferrina/genética , Moldes Genéticos , Repetições de Trinucleotídeos
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