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91.
P. van't Veer I. E. Lobbezoo J. M. Martín-Moreno E. Guallar J. Gómez-Aracena A. F. Kardinaal L. Kohlmeier B. C. Martin J. J. Strain M. Thamm P. van Zoonen B. A. Baumann J. K. Huttunen F. J. Kok 《BMJ (Clinical research ed.)》1997,315(7100):81-85
OBJECTIVE: To examine any possible links between exposure to DDE (1,1-dichloro-2,2-bis (p-chlorophenyl)ethylene), the persistent metabolite of the pesticide dicophane (DDT), and breast cancer. DESIGN: Multicentre study of exposure to DDE by measurement of adipose tissue aspirated from the buttocks. Laboratory measurements were conducted in a single laboratory. Additional data on risk factors for breast cancer were obtained by standard questionnaires. SETTING: Centres in Germany, the Netherlands, Northern Ireland, Switzerland, and Spain. SUBJECTS: 265 postmenopausal women with breast cancer and 341 controls matched for age and centre. MAIN OUTCOME MEASURE: Adipose DDE concentrations. RESULTS: Women with breast cancer had adipose DDE concentrations 9.2% lower than control women. No increased risk of breast cancer was found at higher concentrations. The odds ratio of breast cancer, adjusted for age and centre, for the highest versus the lowest fourth of DDE distribution was 0.73 (95% confidence interval 0.44 to 1.21) and decreased to 0.48 (0.25 to 0.95; P for trend = 0.02) after adjustment for body mass index, age at first birth, and current alcohol drinking. Adjustment for other risk factors did not materially affect these estimates. CONCLUSIONS: The lower DDE concentrations observed among the women with breast cancer may be secondary to disease inception. This study does not support the hypothesis that DDE increases risk of breast cancer in postmenopausal women in Europe. 相似文献
92.
A new genus of Platycopioida is described from a boxcore sample taken at a depth of 534 m in the ArcticBarents Sea. This is the deepest record ofPlatycopioida so far. Sarsicopia gen. n. is thesistergroup of a taxon comprising Platycopia and Nanocopia; the sistergroup ofthese is Antrisocopia. Sarsicopia gen. n.is the only platycopioid to retain 2 inner setae onthe second endopod segment P2–P4, and 8 setae in thethird endopod segment of P2. The male antennnule isremarkable in having a geniculation located betweenancestral segments XX and XXI. It is suggested thatthis flexure zone was already present in thegroundpattern of Copepoda. Platycopia and Nanocopia have secondarily lost thisgeniculation. 相似文献
93.
94.
Cathy M. Tuck-Muller Harold Chen José E. Martínez Chuen-Cheh Shen Shibo Li Christine Kusyk Denise A. S. Batista Yogendra M. Bhatnagar Edmund Dowling Wladimir Wertelecki 《Human genetics》1995,96(1):119-129
Dicentrics are among the most common structural abnormalities of the human Y chromosome. Predicting the phenotypic consequences of different duplications and deletions of dicentric Y chromosomes is usually complicated by varying degrees of mosaicism (45,X cell lines), which may, in some cases, remain undetected. Molecular studies in patients with dicentric Y chromosomes have been few, and only two studies have attempted to determine the presence of SRY (the putative testis-determining factor gene). We report an 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly who has a 45,X/46,X,idic(Y)(p11.32)/47,X,idic(Y)(p11.32),idic(Y) (p11.32) karyotype. Southern analysis using Y-specific probes (Y97, 2D6, 1F5, pY3.4) and polymerase chain reaction (PCR) analysis using primers for ZFY and SRY were positive for all loci tested, indicating that almost all of the Y chromosome was present. Our findings and an extensive review of the literature emphasize the importance of molecular analyses of abnormal Y chromosomes before any general conclusions can be reached concerning the relative effects of the Y-chromosome abnormality and mosaicism on sexual differentiation. 相似文献
95.
An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q 总被引:7,自引:0,他引:7
José M. Millán Francisco Martínez Concha Vilela Magdalena Beneyto Félix Prieto Carmen Nájera 《Human genetics》1995,96(2):216-218
Retinitis pigmentosa is the most prevalent inherited disorder of the retina. It can be autosomal dominant (adRP), autosomal recessive (arRP) or X-linked (XLRP). A form of adRP mapping to chromosome 7q was reported in a large Spanish pedigree. We have typed DNA from the members of another Spanish family for polymorphic markers from the known candidate genes. Positive lod scores were obtained only for the markers located on 7q31-35, giving a maximum lod score of 2.98 (3.01 by multipoint analysis) at = 0.00 for D7S480. A brief clinical evaluation is given. 相似文献
96.
Gene frequencies at 13 isozyme loci were determined in three South American taxa of cultivated potatoes [the diploid group (gp.) Stenotomum, the diploid subgroups (subgp.) Goniocalyx, and the tetraploid gp. Andigena ofS. tuberosum], in the diploid weed speciesS. sparsipilum, and in most of the main cultivars now raised in the Northern Hemisphere (the tetraploid gp. Tuberosum ofS. tuberosum). High levels of genetic variability (mean number of alleles per locus, percentage of polymorphic loci, and mean heterozygosity) were detected, being higher in tetraploid potatoes. An equilibrium among the evolutionary factors which increase genetic variability and artificial selection for maximum yield would explain the high uniformity of heterozygosity values we observed in both Andigena (0.36 ± 0.02) and Tuberosum (0.38 ± 0.01) cultivars.—The low value of genetic distance (D = 0.044) between Stenotomum and Goniocalyx does not support the status of species forS. goniocalyx.—In most isozyme loci, the electromorphs of gp. Andigena were a combination of those found in both gp. Stenotomum andS. sparsipilum, suggesting an amphidiploid origin of gp. Andigena from that two diploid taxa. The presence in Andigena of unique electromorphs, which were lacking in both gp. Stenotomum andS. sparsipilum, suggests that other diploid species could be also implied in the origin of tetraploid Andean potatoes. Furthermore, since Andigena were more related to Stenotomum (D = 0.052) than toS. sparsipilum (D = 0.241), the autopolyploidization of Stenotomum individuals and the subsequent hybridization with gp. Andigena may also have occurred. Thus, our study suggests a multiple origin (amphidiploidy, autoploidy, and hybridization at tetraploid level) of gp. Andigena.—Most of the electromorphs of gp. Tuberosum were also found in gp. Andigena; both the direct derivation of that group from the Andean tetraploid potatoes and the repeated introgression provided by breeding programmes could explain this result. However, the allele c of Pgm-B, present in 30 out of 76 Tuberosum cultivars from Northern Hemisphere as well as in 3 Chilean Tuberosum cultivars, lacks in the 258 Andigena genotypes sampled, suggesting that Chilean germplasm could have taken part in the origin of at least the 39% of the potato cultivars from Europe and North America analyzed here.—The distanceWagner procedure provides an estimate of a 30% of heterogeneity in the evolutionary divergence shown by different groups of cultivated potatoes. Diploid groups show a higher (22.5%) evolutionary rate than tetraploids, which can be attributed to both tetrasomic inheritance and facultative autofecundation that exists in Andigena and Tuberosum groups. Thus, artificial selection acting since 10000 years has not resulted in a higher rate of molecular evolution at the isozyme level in the tetraploids. 相似文献
97.
J. del Mazo J. A. Abrisqueta Amalia Pérez-Castillo V. Aller M. Angeles Martín Lucas M. Luisa de Torres M. José Martín 《Human genetics》1978,44(1):105-108
Summary A new case of ring chromosome 4 in a 2-day-old female child with multiple malformations is described. By means of the GTG-banding technique, a karyotype 46,XX,r(4), (p16q35) was determined. The characteristics of the child's karyotype and the relationship with the structure of the chromosome, especially the location of the deletion that produces the syndrome, are compared with previous reports. 相似文献
98.
Six new species ofPenicillium Linkex Fries are described and illustrated. Four of them have been recovered from the atmosphere in Madrid, Spain, the other two species were isolated from must and from soil respectively. They clearly differ from all species of the genus described so far and are, therefore described and proposed as new taxa:Penicillium gerundense sp. nov.,Penicillium valentinum sp. nov.,Penicillium alicantinum sp. nov.,Penicillium malacaense sp. nov.,Penicillium tarraconense sp. nov., andPenicillium vasconiae sp. nov. 相似文献
99.
100.
The sympathetic influences on the rabbit unstimulated parotid gland were studied. The experiments were carried out in anaesthetized rabbits with the Stenon aduct cannulated. Direct stimulation of the superior cervical ganglion elicits variable salivary flows. The high amylase content in the saliva points to a sympathetic secretory action upon acinar cells. The administration of alpha-adrenergic blocking agents (dihydroergotamine, phentolamine and phenoxybenzamine) clearly reduces and even abolishes the effect of the sympathetic stimulation upon flow. The administration of a beta-adrenergic blocking agent (propranolol) slightly reduces the sympathetic action. However the amylase activity is greatly reduced. All this suggests that the secretory effects on the fluid fraction should predominantly be alpha-adrenergic while on the secretion of enzymes the beta-receptors should play an important role. 相似文献