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

Genetic Linkage and Linkage Disequilibrium Analysis

2010 ◽  
pp. 550-559
Author(s):  
Kongming Wang ◽  
Bernice Porjesz ◽  
Henri Begleiter ◽  
Kevin Jones
Keyword(s):  
Linkage Disequilibrium ◽  
Genetic Linkage ◽  
Linkage Disequilibrium Analysis

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.

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 The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog

2019 ◽  
Vol 20 (6) ◽  
pp. 1404 ◽  
Author(s):  
Sae-Young Won ◽  
Yong-Chan Kim ◽  
Kiwon Kim ◽  
An-Dang Kim ◽  
Byung-Hoon Jeong
Keyword(s):  
Linkage Disequilibrium ◽  
Prion Disease ◽  
Genetic Linkage ◽  
Protein Gene ◽  
Prnp Gene ◽  
Nucleotide Polymorphisms ◽  
Direct Dna Sequencing ◽  
Disease Resistant ◽  
Genetic Features ◽  
Resistant Animal

Prion disease has displayed large infection host ranges among several species; however, dogs have not been reported to be infected and are considered prion disease-resistant animals. Case-controlled studies in several species, including humans and cattle, indicated a potent association of prion protein gene (PRNP) polymorphisms in the progression of prion disease. Thus, because of the proximal location and similar structure of the PRNP gene among the prion gene family, the prion-like protein gene (PRND) was noted as a novel candidate gene that contributes to prion disease susceptibility. Several case-controlled studies have confirmed the relationship of the PRND gene with prion disease vulnerability, and strong genetic linkage disequilibrium blocks were identified in prion-susceptible species between the PRNP and PRND genes. However, to date, polymorphisms of the dog PRND gene have not been reported, and the genetic linkage between the PRNP and PRND genes has not been examined thus far. Here, we first investigated dog PRND polymorphisms in 207 dog DNA samples using direct DNA sequencing. A total of four novel single nucleotide polymorphisms (SNPs), including one nonsynonymous SNP (c.149G>A, R50H), were identified in this study. We also found two major haplotypes among the four novel SNPs. In addition, we compared the genotype and allele frequencies of the c.149G>A (R50H) SNP and found significantly different distributions among eight dog breeds. Furthermore, we annotated the c.149G>A (R50H) SNP of the dog PRND gene using in silico tools, PolyPhen-2, PROVEAN, and PANTHER. Finally, we examined linkage disequilibrium between the PRNP and PRND genes in dogs. Interestingly, we did not find a strong genetic linkage between these two genes. To the best of our knowledge, this was the first genetic study of the PRND gene in a prion disease-resistant animal, a dog.

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

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 ◽  
Patr&#x000ED;cia Maciel ◽  
Isabel Silveira ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Linkage Disequilibrium Analysis ◽  
Machado Joseph Disease ◽  
Ethnic Origins
Sign in / Sign up

Export Citation Format

Share Document