Microsatellite-Based Candidate Gene Linkage Analysis Studies

2008 ◽  
pp. 75-86 ◽  
Author(s):  
Cathryn Mellersh
Keyword(s):  
Linkage Analysis ◽  
Candidate Gene ◽  
Gene Linkage

scholarly journals Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

2011 ◽  
Vol 44 (8) ◽  
pp. 793-800
Author(s):  
L.V.S. Teixeira ◽  
K.L. Mandelbaum ◽  
L.V. Pereira ◽  
A.B.A. Perez
Keyword(s):  
Linkage Analysis ◽  
Candidate Gene ◽  
Marfan Syndrome ◽  
Genetic Heterogeneity ◽  
Gene Linkage

scholarly journals Combined bulked segregant sequencing and traditional linkage analysis for identification of candidate gene for purple leaf sheath in maize

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0190670 ◽  
Author(s):  
Pengcheng Li ◽  
Cancan Du ◽  
Yingying Zhang ◽  
Shuangyi Yin ◽  
Enying Zhang ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Candidate Gene ◽  
Leaf Sheath ◽  
Purple Leaf

Abstract 1743: Identification of a Novel Susceptibility Locus at 9q21 for Familial Bicuspid Aortic Valve Disease

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Stephen H McKellar ◽  
Marineh Yagubyan ◽  
Ramanath Majumdar ◽  
David J Tester ◽  
Mariza de Andrade ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Linkage Analysis ◽  
Microsatellite Markers ◽  
Candidate Gene ◽  
Candidate Genes ◽  
Bicuspid Aortic Valve ◽  
Fine Mapping ◽  
Aortic Valve Disease ◽  
Biological Plausibility ◽  
Genome Wide

Background: Bicuspid aortic valve disease (BAV), the most common congenital cardiovascular malformation, has an incidence of 0.5–1.0% of live births. While most cases of BAV appear to be sporadic, familial inheritance patterns have been observed consistent with autosomal dominant inheritance with variable penetrance. However, little is known about specific genetic loci responsible for familial BAV. Here, we performed linkage analysis on a large multi-generational pedigree affected with BAV. Methods: We identified a large, five-generation pedigree (136 family members) with 10 individuals having BAV. Two-dimensional echocardiography was used to assign aortic valve phenotype. Genome-wide linkage analysis using 430 microsatellite markers (Marshfield Clinic) and fine mapping using 100 single nucleotide polymorphisms (Affymetrix) on chromosome 9 was performed on genomic DNA from all available family members. Logarithm of odds (LOD) scores of >2.0 were considered suggestive of linkage. Comprehensive splice site/open reading frame mutational analysis of candidate genes residing in the putative locus is underway using PCR, DHPLC, and DNA sequencing. A candidate gene, KLF9, Krüppel-like factor 9 was analyzed for mutations because of its role in cardiogenesis. Results: Multi-point genome-wide linkage analysis demonstrated a 7 cM region on chromosome 9q21 that was suggestive of linkage for familial BAV with a maximum multipoint LOD score of 2.8 flanked by the microsatellite markers GATA7D12 and D9S1834. This region contains several candidate genes with biological plausibility for BAV phenotype. KLF9- encoded Krüppel-like factor 9, localized to chromosome 9q21, was targeted as a prime candidate gene for familial BAV. However, no mutations involving the translated exons of KLF9 were detected. Further fine mapping studies and candidate gene analysis are currently underway. Conclusions: We report a novel susceptibility locus on chromosome 9q21 for BAV in a large multi-generational family. Although coding region mutations in KLF9 are not responsible for BAV in this pedigree, several candidate genes with biological plausibility for the development of congenital BAV lie within this region and warrant further scrutiny.

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

1995 ◽  
Vol 23 (3) ◽  
pp. 205-212 ◽  
Author(s):  
Alberto E. Turco ◽  
Ezio M. Padovani ◽  
Bernard Peissel ◽  
Gian Paolo Chiaffoni ◽  
Sandro Rossetti ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Linkage Analysis ◽  
Polycystic Kidney Disease ◽  
Newborn Infant ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Gene Linkage ◽  
Autosomal Dominant Polycystic Kidney ◽  
Infant Case

scholarly journals Using Genomic Resources for Linkage Analysis in Peromyscus with an Application for Characterizing Dominant Spot

2020 ◽  
Author(s):  
Zhenhua Shang ◽  
David J Horovitz ◽  
Ronald H McKenzie ◽  
Jessica L Keisler ◽  
Michael R Felder ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Neural Crest ◽  
Candidate Gene ◽  
Gene Regulatory Network ◽  
Regulatory Network ◽  
Cholesterol Metabolism ◽  
Deer Mouse ◽  
Genomic Resources ◽  
Hybrid Offspring ◽  
Gene Regulatory

Abstract Background: Peromyscus are the most common mammalian species in North America and are widely used in both laboratory and field studies. The deer mouse, P. maniculatus and the old-field mouse, P. polionotus, are closely related and can generate viable and fertile hybrid offspring. The ability to generate hybrid offspring, coupled with developing genomic resources, enables researchers to conduct linkage analysis studies to identify genomic loci associated with specific traits. Results: We used available genomic data to identify DNA polymorphisms between P. maniculatus and P. polionotus and used the polymorphic data to identify the range of genetic complexity that underlies physiological and behavioral differences between the species, including cholesterol metabolism and genes associated with autism. In addition, we used the polymorphic data to conduct a candidate gene linkage analysis for the Dominant spot trait and determined that Dominant spot is linked to a region of chromosome 20 that contains a strong candidate gene, Sox10. During the linkage analysis, we found that the spot size varied quantitively in affected Peromyscus based on genetic background. Conclusions: The expanding genomic resources for Peromyscus facilitate their use in linkage analysis studies, enabling the identification of loci associated with specific traits. More specifically, we have linked a coat color spotting phenotype, Dominant spot, with Sox10, a member the neural crest gene regulatory network, and that there are likely two genetic modifiers that interact with Dominant spot. These results establish Peromyscus as a model system for identifying new alleles of the neural crest gene regulatory network.

scholarly journals Linkage analysis of the genetic determinants of T-cell IL-4 secretion, and identification of Flj20274 as a putative candidate gene

2005 ◽  
Vol 6 (4) ◽  
pp. 290-297 ◽  
Author(s):  
P Choi ◽  
D Xanthaki ◽  
S J Rose ◽  
M Haywood ◽  
H Reiser ◽  
...  
Keyword(s):  
T Cell ◽  
Linkage Analysis ◽  
Candidate Gene ◽  
Genetic Determinants ◽  
Putative Candidate Gene

scholarly journals Candidate gene linkage approach to identify DNA variants that predispose to preterm birth

2012 ◽  
Vol 73 (2) ◽  
pp. 135-141 ◽  
Author(s):  
Elise N.A. Bream ◽  
Cara R. Leppellere ◽  
Margaret E. Cooper ◽  
John M. Dagle ◽  
David C. Merrill ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Candidate Gene ◽  
Gene Linkage ◽  
Dna Variants
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