Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

1996 ◽  
Vol 98 (5) ◽  
pp. 620-624 ◽  
Author(s):  
Claudia Gaspar ◽  
Iscia Lopes-Cendes ◽  
Anita L. DeStefano ◽  
Patrícia Maciel ◽  
Isabel Silveira ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Linkage Disequilibrium Analysis ◽  
Machado Joseph Disease ◽  
Ethnic Origins

Linkage and linkage disequilibrium analysis of the lipoprotein lipase gene with lipid profiles in Chinese hypertensive families

2005 ◽  
Vol 108 (2) ◽  
pp. 137-142 ◽  
Author(s):  
Wenjie YANG ◽  
Jianfeng HUANG ◽  
Cailiang YAO ◽  
Shaoyong SU ◽  
Donghai LIU ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Lipoprotein Lipase ◽  
Lipid Profiles ◽  
Strong Linkage Disequilibrium ◽  
Nucleotide Polymorphisms ◽  
Linkage Disequilibrium Analysis ◽  
Lipid Levels ◽  
Lipase Gene ◽  
Significant Independent Risk Factor ◽  
Lpl Gene

Elevated TG [triacylglycerol (triglyceride)] is a significant independent risk factor for cardiovascular disease. LPL (lipoprotein lipase) is one of the key enzymes in the metabolism of the TG-rich lipoproteins which hydrolyses TG from the chylomicrons and very-LDL (low-density lipoprotein). To investigate the relationship between the LPL gene and lipid profiles, especially TG, in 148 hypertensive families, we have chosen seven flanking microsatellite markers and four internal markers of the LPL gene and conducted linkage analysis by SOLAR and S.A.G.E. (statistical analysis for genetic epidemiology)/SIBPAL 2 programs, and linkage disequilibrium analysis by QTDT (quantitative transmission/disequilibrium test) and GOLD (graphical overview of linkage disequilibrium). There were statistically significant differences in lipid levels between subjects without and with hypertension within families. A maximum LOD score of 1.3 with TG at the marker D8S261 was observed by SOLAR. Using S.A.G.E./SIBPAL 2, we identified a linkage with TG at the marker ‘ATTT’ located within intron 6 of the LPL gene (P=0.0095). Two SNPs (single nucleotide polymorphisms), HindIII and HinfI, were found in linkage disequilibrium with LDL-cholesterol levels (P=0.0178 and P=0.0088 respectively). A strong linkage disequilibrium was observed between the HindIII in intron 8 and HinfI in the exon 9 (P<0.00001, D′=0.895). Linkage disequilibrium was also found between the ‘ATTT’ polymorphism in intron 6 and two SNPs (P=0.0021 and D′=0.611 for HindIII; and P=0.00004, D′=0.459 for HinfI). The present study in the Chinese families with hypertension suggested that the LPL gene might influence lipid levels, especially TG metabolism. Replication studies both in Chinese and other populations are warranted to confirm these results.

Genetic Linkage and Linkage Disequilibrium Analysis

2012 ◽  
pp. 550-559
Author(s):  
Kongming Wang ◽  
Bernice Porjesz ◽  
Henri Begleiter ◽  
Kevin Jones
Keyword(s):  
Linkage Disequilibrium ◽  
Genetic Linkage ◽  
Linkage Disequilibrium Analysis

scholarly journals Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 137A-137A
Author(s):  
G A Diaz ◽  
B D Gelb ◽  
N Risch ◽  
T Nygaard ◽  
I Maire ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Gaucher Disease ◽  
Linkage Disequilibrium Analysis ◽  
N370s Mutation

scholarly journals Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci

2010 ◽  
Vol 2 (4) ◽  
pp. 210-223 ◽  
Author(s):  
Judy F. Flax ◽  
Abby Hare ◽  
Marco A. Azaro ◽  
Veronica J. Vieland ◽  
Linda M. Brzustowicz
Keyword(s):  
Linkage Disequilibrium ◽  
Linkage Disequilibrium Analysis ◽  
Motor Speech
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