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1.
J Biomol Screen ; 14(1): 92-6, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19171925

RESUMO

Single nucleotide polymorphisms (SNPs) have recently replaced microsatellites as the genetic markers of choice in linkage analysis, primarily because they are more abundant and the genotypes more amenable for automatic calling. One of the most recently launched linkage mapping sets (LMS) is the Applied Biosystems Human LMS 4K, which is a genome-wide linkage set based on the SNPlex technology and the use of clustered SNPs. In this article the authors report on their experience with this set and the associated genotyping software GeneMapper version 4.0, which they have used for linkage analyses in 17 moderate to large families with assumed monogenic disease. For comparison of methods, they also performed a genome-wide linkage analysis in 1 of the 17 families using the Affymetrix GeneChip Human Mapping 10K 2.0 array. The conclusion is that both methods performed technically well, with high call rates and comparable and low rates of Mendelian inconsistencies. However, genotyping is less automated in GeneMapper version 4.0 than in the Affymetrix software and thus more time consuming.


Assuntos
Ligação Genética/genética , Genoma Humano/genética , Estudo de Associação Genômica Ampla , Família Multigênica/genética , Polimorfismo de Nucleotídeo Único/genética , Marcadores Genéticos/genética , Humanos , Software
2.
Alcohol Alcohol ; 42(6): 525-8, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17670801

RESUMO

AIMS: It has been reported that alcohol has multiple effects on appetite. To elucidate potential mechanisms we measured the levels of plasma leptin and the vasoactive factors after red wine intake. METHODS: We conducted a randomized crossover trial to study the effect of red wine on the levels of leptin, TNF-alpha, TGF- beta(1), IL-6, ICAM-1, and VCAM-1 in healthy, non-smoking individuals. The subjects were randomized to drinking one glass of red wine (150 ml, 15 g alcohol) every day ('wine period') or to undergo a period of total abstention from alcohol ('abstention period'). After 3 weeks they switched the intervention group. Eighty-seven volunteers completed the study (mean age 50 years). RESULTS: After 3 weeks' daily intake of red wine, plasma leptin was significantly increased (from 6308 pg/ml to 7402 pg/ml, P = 0.05). There was a marked gender difference, as leptin levels increased only in females (P = 0.012). When calculated as leptin/body mass index (BMI) ratio, the trend and results were similar. Red wine consumption had no significant effect on other vasoactive factors measured in this study. CONCLUSION: Red wine increases levels of the appetite-regulating hormone leptin in females, but not in males. Whether red wine has an effect on appetite-regulation in its own right, remains to be solved.


Assuntos
Tecido Adiposo/metabolismo , Consumo de Bebidas Alcoólicas/sangue , Leptina/sangue , Vinho , Adulto , Idoso , Estudos Cross-Over , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Caracteres Sexuais , Fator de Crescimento Transformador alfa/sangue , Molécula 1 de Adesão de Célula Vascular/sangue
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