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1.
John G. New 《Journal of comparative physiology. A, Neuroethology, sensory, neural, and behavioral physiology》1990,167(2):285-294
1. Ampullary electroreceptors in elasmobranchs are innervated by fibers of the ALLN, which projects to the dorsal octavolateralis nucleus (DON). The purpose of this study is to examine the response characteristics of ALLN fibers and DON neurons to weak D.C. and sinusoidal electric field stimuli presented as local dipole fields. 2. ALLN fibers respond to presentation of D.C. fields with a phasic burst, followed by a more slowly adapting period of firing. Ascending efferent neurons (AENs) in the DON respond to stimuli with a similar initial burst, which adapts more quickly. 3. Type 1, 2, and 3 neurons are possible local interneurons or commissural DON neurons. Type 1 neurons demonstrate response properties similar to those of AENs. Type 2 cells demonstrated slowly adapting responses to excitatory stimuli, the duration of the response increased with the amplitude of the stimulus. Type 3 neurons demonstrated an increased rate of firing, but the response lacked any specific temporal characteristics. 4. ALLN fibers typically have receptive fields consisting of a single ampulla. The receptive field sizes of DON neurons exhibited varying degrees of convergence for different cell types. 5. Responses of ALLN fibers and DON neurons to weak sinusoidal stimuli demonstrated very similar frequency response characteristics for all cell types. The peak sensitivity of electrosensory neurons was between 5-10 Hz. 相似文献
2.
Phyllis W. Speisere Maria I. New Grace M. Tannin Donald Pickering Soo Young Yang Perrin C. White 《Human genetics》1992,88(6):647-648
Summary An A-to-G transition in the second intron was the sole mutation detected in four Yupik Eskimo patients with salt-wasting congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Allele-specific hybridization should be an efficient means of performing prenatal diagnosis of the disease in this highly inbred population. 相似文献
3.
Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family 总被引:25,自引:0,他引:25
Danièle Carré-Eusèbe Sandrine Imbeaud Madeleine Harbison Maria I. New Nathalie Josso Jean-Yves Picard 《Human genetics》1992,89(4):389-394
Summary The human genome contains a large number of interspersed simple repeat sequences that are variable in length and can therefore serve as highly informative, polymorphic markers. Typing procedures include conventional multilocus and single locus probing, and polymerase chain reaction aided analysis. We have identified simple sequences in a cosmid clone stemming from the human Y chromosome and consisting of (gata)n repeats. We have compared these with two equivalent simple repeat loci from chromosome 12. After amplifying the tandemly repeated motifs, we detected between four and eight different alleles at each of the three loci. Codominant inheritance of the alleles was established in family studies and the informativity of the simple repeat loci was determined by typing unrelated individuals. The polymorphisms are suitable for application in linkage studies, practical forensic case work, deficiency cases in paternity determination, and for studying ethnological questions. The mutational mechanisms that bring about changes in simple repeats located both on the autosomes and on the sex chromosomes, are discussed.Professor Dr. Otto Prokop (Humboldt-Universität Berlin) on the occasion of his 70th birthday 相似文献
4.
S L Sherman C E Aston N E Morton P W Speiser M I New 《American journal of human genetics》1988,42(6):830-838
The segregation of classical and nonclassical 21-hydroxylase deficiency (21-OHD) and its linkage to HLA-B was investigated in 220 families. First, the surprisingly high frequency of the nonclassical 21-OHD gene estimated elsewhere was confirmed using a different methodology which avoided particular assumptions concerning the classification of an individual''s genotype. In the present study the gene frequency was found to be .103 +/- .020 in an ethnically pooled sample and was as high as .223 +/- .062 among Ashkenazi Jews. Second, the segregation analysis of families ascertained through a nonclassical 21-OHD proband and those ascertained through a classical 21-OHD proband showed essentially identical results. A partial recessive model with no recombination between 21-OHD and HLA-B fitted the data better than did a complete recessive model with approximately 0.5% recombination between 21-OHD and HLA-B. The support for the partial over the complete recessive model depended on the assumed ascertainment probability, an unknown parameter in these data. Four families provided most of the evidence against the complete recessive model. All these included an unaffected sib who shared both HLA-B specificities in common with the affected proband. Possible explanations for the condition in these families include recombination, gene conversion, mutation in one of the parental gametes, or technical errors. 相似文献
5.
6.
Gene engineering by selectable intraplasmid recombination: construction of novel dihydrofolate reductase minigenes 总被引:1,自引:0,他引:1
An intraplasmid recombination system in Escherichia coli has been designed to make possible the engineering of various genes using methods that greatly reduce dependence on appropriately placed restriction enzyme sites. This system has been used to manipulate intervening sequences in dihydrofolate reductase minigenes and to vary the number of 48-bp repeats in the promoter region. In this method, the two fragments to be recombined are cloned into a plasmid separated by a fragment of DNA containing an expressible galactokinase-encoding gene (galK). Selection for loss of the galK gene, but for retention of the plasmid in E. coli, results in a plasmid in which the two fragments have undergone homologous recombination. Several new plasmids are reported here which contain an expressible galK gene flanked by multiple restriction sites. These plasmids should be useful in recombination and as convenient sources of a gene for which both positive and negative selections are available in E. coli. 相似文献
7.
8.
Litman GW; Rast JP; Shamblott MJ; Haire RN; Hulst M; Roess W; Litman RT; Hinds- Frey KR; Zilch A; Amemiya CT 《Molecular biology and evolution》1993,10(1):60-72
Immunoglobulins are encoded by a large multigene system that undergoes
somatic rearrangement and additional genetic change during the development
of immunoglobulin-producing cells. Inducible antibody and antibody-like
responses are found in all vertebrates. However, immunoglobulin possessing
disulfide-bonded heavy and light chains and domain-type organization has
been described only in representatives of the jawed vertebrates. High
degrees of nucleotide and predicted amino acid sequence identity are
evident when the segmental elements that constitute the immunoglobulin gene
loci in phylogenetically divergent vertebrates are compared. However, the
organization of gene loci and the manner in which the independent elements
recombine (and diversify) vary markedly among different taxa. One striking
pattern of gene organization is the "cluster type" that appears to be
restricted to the chondrichthyes (cartilaginous fishes) and limits
segmental rearrangement to closely linked elements. This type of gene
organization is associated with both heavy- and light-chain gene loci. In
some cases, the clusters are "joined" or "partially joined" in the germ
line, in effect predetermining or partially predetermining, respectively,
the encoded specificities (the assumption being that these are expressed)
of the individual loci. By relating the sequences of transcribed gene
products to their respective germ-line genes, it is evident that, in some
cases, joined-type genes are expressed. This raises a question about the
existence and/or nature of allelic exclusion in these species. The
extensive variation in gene organization found throughout the vertebrate
species may relate directly to the role of intersegmental
(V<==>D<==>J) distances in the commitment of the individual
antibody-producing cell to a particular genetic specificity. Thus, the
evolution of this locus, perhaps more so than that of others, may reflect
the interrelationships between genetic organization and function.
相似文献
9.
10.
M. S. Pollack M. I. New G. J. O'Neill L. S. Levine C. Callaway S. Pang E. Cacciari F. Mantero A. Cassio C. Scaroni G. Chiumello G. F. Rondanini L. Gargantini G. Giovannelli R. Virdis E. Bartolotta C. Migliori C. Pintor L. Tato F. Barboni B. Dupont 《Human genetics》1981,58(3):331-337
Summary HLA genotype and HLA-linked marker data for 40 unrelated patients from central Italy and 2 unrelated patients from Sardinia with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) were analyzed. The results confirm that the HLA-linked 21-OH-def gene is associated with several different HLA determinants and complete HLA haplotypes, although the only determinant with significantly increased frequency was the complement C2 allele C2B. The HLA antigens B8 and DR3 were found in significantly decreased frequencies. The haplotype A3, Cw6, Bw47, BfF, DR7, which is exceptionally rare in the general population but which has been found in many other 21-OH-def patients from diverse geographical origins, was also found in one of the Italian patients. This and other HLA haplotype associations found among the Italian patients may represent mutations that have occurred on HLA haplotypes with genetic linkage disequilibrium or, alternatively, may represent mutations that have not yet had time to become randomly associated with different HLA complex determinants. The marked negative associations with B8 and DR3 could, however, result from an interaction between the gene products of the HLA complex and the 21-OH-def phenotype. 相似文献