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61.
62.
Various aspects of the reproduction and embryology of Walker Lake Lahontan tui chub, Gila bicolor , were investigated during the spring–summer period of 1976, 1977, and 1981. Tui chub were found to spawn in littoral regions of the lake beginning in late May or early June. Early in the season male chub substantially outnumbered females over the spawning grounds, with a normal 1:1 sex ratio gradually approached as the season progressed. The developmental period between fertilization to hatch-out was shortened by increases in water temperature. Selected stages of embryonic development are described from egg fertilization through post-hatch.  相似文献   
63.
In this study we report convincing statistical support for a sixth type 1 diabetes (T1D) locus in the innate immunity viral RNA receptor gene region IFIH1 (also known as mda-5 or Helicard) on chromosome 2q24.3. We found the association in an interim analysis of a genome-wide nonsynonymous SNP (nsSNP) scan, and we validated it in a case-control collection and replicated it in an independent family collection. In 4,253 cases, 5,842 controls and 2,134 parent-child trio genotypes, the risk ratio for the minor allele of the nsSNP rs1990760 A --> G (A946T) was 0.86 (95% confidence interval = 0.82-0.90) at P = 1.42 x 10(-10).  相似文献   
64.
Identification of genetic variants that contribute to risk of hypertension is challenging. As a complement to linkage and candidate gene association studies, we carried out admixture mapping using genome-scan microsatellite markers among the African American participants in the US National Heart, Lung, and Blood Institute's Family Blood Pressure Program. This population was assumed to have experienced recent admixture from ancestral groups originating in Africa and Europe. We used a set of unrelated individuals from Nigeria to represent the African ancestral population and used the European Americans in the Family Blood Pressure Program to provide estimates of allele frequencies for the European ancestors. We genotyped a common set of 269 microsatellite markers in the three groups at the same laboratory. The distribution of marker location-specific African ancestry, based on multipoint analysis, was shifted upward in hypertensive cases versus normotensive controls, consistent with linkage to genes conferring susceptibility. This shift was largely due to a small number of loci, including five adjacent markers on chromosome 6q and two on chromosome 21q. These results suggest that chromosome 6q24 and 21q21 may contain genes influencing risk of hypertension in African Americans.  相似文献   
65.
ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity. Platelet dysfunction is common. Affected infants do not thrive and usually die in the first year of life. To elucidate the molecular basis of ARC, we mapped the disease to a 7-cM interval on 15q26.1 and then identified germline mutations in the gene VPS33B in 14 kindreds with ARC. VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion.  相似文献   
66.
RNA processing and human disease   总被引:9,自引:0,他引:9  
Gene expression involves multiple regulated steps leading from gene to active protein. Many of these steps involve some aspect of RNA processing. Diseases caused by mutations that directly affect RNA processing are relatively rare compared with mutations that disrupt protein function. The vast majority of diseases of RNA processing result from loss of function of a single gene due to mutations in cis-acting elements required for pre-messenger RNA (mRNA) splicing. However, a few diseases are caused by alterations in the trans-acting factors required for RNA processing and in the vast majority of cases it is the pre-mRNA splicing machinery that is affected. Clearly, alterations that disrupt splicing of pre-mRNAs from large numbers of genes would be lethal at the cellular level. A common theme among these diseases is that only subsets of genes are affected. This is consistent with an emerging view that different subsets of exons require different sets of cis-acting elements and trans-acting factors.  相似文献   
67.
D W Cooper 《Nature》1971,230(5292):292-294
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68.
69.
Immunoglobulin heavy-chain switching in pre-B leukaemias   总被引:3,自引:0,他引:3  
H Kubagawa  M Mayumi  W M Crist  M D Cooper 《Nature》1983,301(5898):340-342
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70.
Rethinking synchronization of mammalian cells for cell cycle analysis   总被引:3,自引:0,他引:3  
An analysis of different classes of forced or batch synchronization methods reveals why these methods, in theory, do not produce synchronized cultures. Cells may be aligned for a particular property after specific treatments, but these aligned cells do not correspond to any particular cell age during the normal cell cycle. The experimental methods analyzed are those that arrest cells with a G1 phase amount of DNA, those that inhibit DNA synthesis, and those that arrest cells at mitosis. Release of arrested cells from inhibition does not produce cells reflecting cells during the normal division cycle. Thus, cells produced by batch or forcing methods are not experimental models for analysis of the normal cell cycle.  相似文献   
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