Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy[J] . Zhaoxia Ren,Pei-Yu Lin,Gordon K. Klintworth,Fumino Iwata,Francis L. Munier,Daniel F. Schorderet,Leila El Matri,Veena Theendakara,Surendra Basti,Madhukar Reddy,Fielding J. Hejtmancik.Human ...
aHowever, it is also possible that variants identified in populations of European descent might not be applicable among Asians because of underlying genetic heterogeneity (both allelic and locus heterogeneity). 然而,它也是可能的在欧洲血脉的人口辨认的变形也许不是可适用的在亚洲人之中由于部下的基因非...
(Merlo and Boyle, 2003). Complex diseases often display allelic andlocus heterogeneity(Botstein and Risch, 2003; Goldsteinet al., 2003). In the case of allelic heterogeneity, multiple mutations within the same gene lead to the illness, while in the case of locus heterogeneity one sees ...
using autoimmune and infectious diseases as examples (Boxes 2 and 3). We also discuss the relationships between the MHC variants involved in both autoimmune and infectious diseases and offer insights into the MHC-associated immune responses underlying disease onset and pathogenesis. Finally, we discuss...
Another is that high and extensive LD in the locus makes it difficult to identify causal and independent loci. Non-additive allelic effects in the MHC, and epistatic effects between the MHC and other loci, can also complicate inference of the underlying haplotype structure and disease ...
Autosomal recessive retinitis pigmentosa (arRP) is characterized by considerable allelic and nonallelic heterogeneity. Mutations have been described in the... A Martínez-Mir,M Bayés,Llusa Vilageliu,... - 《Genomics》 被引量: 149发表: 1997年 Identification of a modifier gene locus on chromosome...
Using a three-color palette, we track the dynamic 3D locations of multiple reference points along a chromatin loop. Casilio imaging reveals intercellular heterogeneity and interallelic asynchrony in chromatin interaction dynamics, underscoring the importance of studying genome structures in 4D....
Most autosomal genes are thought to be expressed from both alleles, with some notable exceptions, including imprinted genes and genes showing random monoallelic expression (RME). The extent and nature of RME has been the subject of debate. Here we invest
On the basis of these results, it is reasonable to conclude that heterogeneity exists in sample in the present study; however, we cannot distinguish between allelic heterogeneity, locus heterogeneity, and the existence of nongenetic causes. At the same time, these results also suggest that the ...
Power of Genetic Association Studies in the Presence of Linkage Disequilibrium and Allelic Heterogeneity Transmission disequilibrium testAllelic heterogeneityObjectives: The calculation of the power and sample size required for association studies is essential, ... Sheila A Fisher, Cathryn M Lewis - 《Huma...