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Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism 总被引:8,自引:4,他引:4 下载免费PDF全文
L B Giebel R K Tripathi K M Strunk J M Hanifin C E Jackson R A King R A Spritz 《American journal of human genetics》1991,48(6):1159-1167
We have identified three different tyrosinase gene mutant alleles in four unrelated patients with type IB ("yellow") oculocutaneous albinism (OCA) and thus have demonstrated that type IB OCA is allelic to type IA (tyrosinase negative) OCA. In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406. In the second family, type IB OCA results from compound heterozygosity for a type IA OCA allele (codon 81 Pro----Leu) and a novel type IB allele (codon 275 Val----Phe). In the third patient, type IB OCA results from compound heterozygosity for the same type IB allele (codon 275 Val----Phe) and a novel type IB OCA allele. In a fourth patient, type IB OCA results from compound heterozygosity for the codon 81 type IA OCA allele and a type IB allele that contains no identifiable abnormalities; dysfunction of this type IB allele apparently results from a mutation either well within one of the large introns or at some distance from the tyrosinase gene. In vitro expression of the Amish type IB allele in nonpigmented HeLa cells demonstrates that the Pro----Leu substitution at codon 406 greatly reduces but does not abolish tyrosinase enzymatic activity, a finding consistent with the clinical phenotype. 相似文献
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Two methods, digestion and elution, were used to recover parasitic nematodes from 470 flatfish belonging to species in the family Pleuronectidae. Samples of similar fish were collected from market lots; half of each sample was subjected to digestion, and half was subjected to elution (sedimentation). The edible (flesh) and the inedible (viscera) portions of each fish were analyzed separately. The total number of nematodes recovered by digestion was 1,110, which was not significantly greater than the 922 nematodes recovered by elution. However, digestion recovered 1,062 nematodes of the anisakine genera Anisakis and Phocanema, which are potentially pathogenic for human consumers of raw of semiraw fish. This number is significantly greater than the 608 pathogenic nematodes recovered by elution. Digestion also recovered 242 more nematodes from the edible flesh than did elution. Conversely, more nonpathogenic nematodes were recovered by elution. Approximately half the fish (240) had been collected in Boston markets, and the other half (230) had been collected in San Francisco markets. Fish from San Francisco each contained an average of eight nematodes, and those from Boston contained an average of less than one nematode per fish. 相似文献
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By analysing rumen content samples from 105 dead specimens, the annual diet of the Roe deer ( Capreolus capreolus ) in the New Forest, Hampshire, was determined over the period from November 1970 to March 1973. Bramble and rose formed the bulk of the diet throughout the year, comprising the largest food fraction in all months except January and April. In January to March, foliage from felled conifers, Calluna , and ivy were major foods, plus lesser amounts of grasses, herbs and fungi. From May until early winter, herbs and grasses were important. New, tender, spring and summer growth from broadleaved deciduous trees, bilberry and holly was eaten in appreciable quantities. Acorns were a characteristic autumnal food. Abundant potential foods which Roe deer seldom selected included rushes, sedges, mosses, bark and dead hardwood leaves. Widespread species that Roe rarely consumed were Corsican pine, Erica tetralix, E. cinerea , gorses, bog myrtle and the grasses Agrostis setacea, Brachypodium sylvaticum, Deschampsia caespitosa and Molinia caerulea . 相似文献
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Migration of IgA-bearing lymphocytes into salivary glands 总被引:4,自引:0,他引:4
The relative migratory properties of [125I]iododeoxyuridine-labeled dividing mesenteric lymph node (MLN) and peripheral lymph node (PLN) cells were assessed in mice using the adoptive transfer system. MLN cells from virgin donors showed a greater tendency to localize in MLN, small intestine, and mammary glands (lactating recipients only) of virgin and lactating recipients. In addition, MLN cells were shown to selectively localize in the salivary (submandibular and sublingual) glands. The relative migratory properties of MLN and PLN cell populations were identical when donor cells were obtained from virgin or lactating animals. Selective depletion of IgA-bearing cells from the MLN transfer cell population abrogated the preferential localization in control mucosal tissues and salivary glands. These data show that the salivary glands can be included as an additional mucosal area populated by gut-derived IgA-bearing cells and provides direct evidence that the common mucosal immune sytstem extends to secretory tissue in the oral cavity. 相似文献
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