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11.
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP) 总被引:2,自引:2,他引:2
Roepman R; Bauer D; Rosenberg T; van Duijnhoven G; van de Vosse E; Platzer M; Rosenthal A; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(6):827-833
The gene for the most frequent from of X-linked retinitis pigmentosa
(XLRP), RP3, has been assigned by genetic and physical mapping to a segment
of less than 1000 kbp, which is flanked by the marker DXS1110 and the
ornithine transcarbamylase (OTC) gene. In search of microdeletions, we have
screened the DNA of 30 unrelated patients with XLRP by employing a
representative set of YAC-derived DNA fragments that were generated by
restriction enzyme digestion and PCR amplification. In one of these
patients, a 6.4 kbp microdeletion was detected which was not present in the
DNA of 444 male controls. A cosmid contig spanning the deletion was
constructed and used to isolate cDNAs from retina-specific libraries. Exons
corresponding to these expressed sequences as well as other putative exons
were identified by sequencing more than 30 kbp of the critical region. So
far, no point mutations in these putative exon sequences have been
identified.
相似文献
12.
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 总被引:6,自引:7,他引:6
Roepman R; van Duijnhoven G; Rosenberg T; Pinckers AJ; Bleeker-Wagemakers LM; Bergen AA; Post J; Beck A; Reinhardt R; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(7):1035-1041
The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-
linked RP (XLRP), has been mapped previously to a chromosome interval of
less than 1000 kbp between the DXS1110 marker and the OTC locus at
Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization
(YRH)', we have recently identified a small XLRP associated microdeletion
in this interval, as well as several putative exons including the 3' end of
a gene that was truncated by the deletion. cDNA library screening and
sequencing of a cosmid centromeric to the deletion has now enabled us to
identify numerous additional exons and to detect several point mutations in
patients with XLRP. The predicted gene product shows homology to RCC1, the
guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our
findings suggest that we have cloned the long-sought RP3 gene, and that it
may encode the GEF of a retina-specific GTP-binding protein.
相似文献
13.
Increased replication of HIV-1 at sites of Mycobacterium tuberculosis infection: potential mechanisms of viral activation 总被引:2,自引:0,他引:2
14.
Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family 总被引:3,自引:0,他引:3
Fagerheim T; Nilssen O; Raeymaekers P; Brox V; Moum T; Elverland HH; Teig E; Omland HH; Fostad GK; Tranebjaerg L 《Human molecular genetics》1996,5(8):1187-1191
Hereditary hearing impairment affects about 1 in 1000 newborns. In most
cases hearing loss is non-syndromic with no other clinical features, while
in other families deafness is associated with specific clinical
abnormalities. Analysis of large families with non-syndromic and syndromic
deafness have been used to identify genes or gene locations that cause
hearing impairment. The present report describes a large Norwegian family
with autosomal dominant non-syndromic, progressive high tone hearing loss
with linkage to 1q21-q23. A maximum LOD score of 7.65 (theta = 0.00) was
obtained with the microsatellite marker D1S196. Analysis of recombinant
individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104
and D1S466. The region contains several attractive candidate genes. This
report supports the idea of extensive genetic heterogeneity in hereditary
hearing impairment and represents the first localization of a deafness gene
in a Norwegian family.
相似文献
15.
Correlation of tensile strength with bursting pressure in the evaluation of intestinal anastomosis 总被引:2,自引:0,他引:2
Ikeuchi D Onodera H Aung T Kan S Kawamoto K Imamura M Maetani S 《Digestive surgery》1999,16(6):478-485
BACKGROUND: Although bursting pressure and tensile strength have long been measured to evaluate anastomotic techniques, it has yet to be clarified whether or not they are correlated, what implications they have, and which should be used as a gold standard. MATERIAL AND METHODS: Using an experimental model to estimate pressure and tension in the same colonic anastomosis, the following variables were measured in 48 rats between days 0 and 14: bursting pressure (BP); minimal tensile strength (MITS) necessary to break a part of the anastomosis, and maximal tensile strength (MATS) needed to disrupt the whole anastomosis. Also, circulatory wall tension (CWT) was derived from BP and the anastomotic circumference (AC), and longitudinal wall tension (LWT) from MITS and AC. These variables were compared using correlation and regression analysis. RESULTS: During the lag phase (days < or = 4) there was poor correlation between pressure-related and tension-related variables whereas highly significant correlations were noted in the subsequent fibroplastic phase (day > or = 5). It was shown by regression lines that positive MITS and MATS were expected when BP was zero. CONCLUSION: Contrary to the previous assumption, no correlation was found between BP and tensile strength in the critical postoperative period. Based on our present and previous studies, measurement of MITS is recommended to evaluate the healing of colonic anastomosis. 相似文献
16.
LeLe Aung Richard Gorlick John H Healey Weiji Shi Howard T Thaler Nicholas A Shorter Andrew G Huvos Paul A Meyers 《Journal of clinical oncology》2003,21(2):342-348
PURPOSE: The prognosis for patients who develop metachronous skeletal osteosarcoma (OS) has been considered grave compared with that for patients with relapse limited to the lungs. We investigated the incidence and outcome of metachronous skeletal OS after initial treatment of the primary tumor. PATIENTS AND METHODS: Twenty-three (median age 18.7 years) of 426 patients with nonmetastatic, high-grade primary OS treated at Memorial Sloan-Kettering Cancer Center (New York, NY) between February 1973 and May 2000 developed metachronous skeletal OS. Initial therapy included combination chemotherapy and surgery. Treatment of subsequent relapses consisted of chemotherapy or radiation alone or surgery with or without additional individualized chemotherapy. RESULTS: The median time from the diagnosis of primary OS to the development of metachronous OS was 1.4 years (range, 0.2 to 11.3 years). Median survival was 1.5 years (95% confidence interval [CI], 0.8 to 6.9 years). Two- and 5-year postmetachronous overall survival was 43.5% (95% CI, 23.2% to 63.7%) and 33% (95% CI, 13% to 53%), respectively. At last follow-up (range, 0.1 to 12.8 years), five (30.4%) patients were alive with no evidence of disease (range, 1.7 to 12.8 years; median, 4.4 years). For 11 patients who developed metachronous OS 24 months or more from initial diagnosis, 5-year postmetachronous survival rate for patients receiving combined modality versus monotherapy was 83% (95% CI, 54% to 100%) and 40% (95% CI, 0% to 83%), respectively. CONCLUSION: In a small subset of patients who developed late metachronous OS, combined-modality therapy with surgery and aggressive chemotherapy may result in long-term postmetachronous survival. This implies that principles used in treatment of primary OS may be applied to patients with late metachronous skeletal OS. 相似文献
17.
Two girls (a 5 year old and a 21 month old) experiencing mononucleosis syndrome with coincidental human herpesvirus (HHV)-7 and Epstein-Barr virus (EBV) infections are described. One patient had primary HHV-7 infection and reactivated EBV infection. The other had primary HHV-7 and EBV infections. These cases indicated that HHV-7 is capable of inducing infectious mononucleosis-like illness. Multiple herpesvirus infection in one of the patients also suggests that interaction among herpesviruses can occur in vivo. The consequence of this interaction may have clinical implications. 相似文献
18.
Zhang JD Cao YB Xu Z Sun HH An MM Yan L Chen HS Gao PH Wang Y Jia XM Jiang YY 《第二军医大学学报》2006,27(6):664-664
Antifungal activity of natural products is being studied widely. Saponins are known to be antifungal and antibacterial. We have isolated eight steroid saponins from Tribulus terrestris L. , namely TTS-8, TTS-9, TTS-10, TTS-11, TTS-12, TTS-13, TTS-14 and TTS-15. TTS-12 and TTS-15 were identified as tigogenin-3-O-β-D-xylopyranosyl(1→ 2)-[-β-D-xylopyranosyl( 1 → 3 ) 3-β- D-glucopyranosyl ( 1 → 4 )- 1- α-L-rhamnopyranosyl ( 1 → 2 ) 3-β-D-galactopyranoside and tigogenin-3-O-β-D-glucopyranpyranosyl(1→2)-[-β-D-xylopyranosyl(1→ 3)3-β-D-glucopyranosyl(1→4)-β-D-galactopyranoside, respectively. The in vitro antifungal activities of the eight saponins against six fluconazole-resistant yeasts, Candida albicans, Candida glabrata, Candida para psilosis , Candida tropicalis , Candida krusei , and Cryptococcus neo f ormans were studied using microbroth dilution assay. The results showed that TTS-12 and TTS-15 were very effective against several pathogenic candidal species and C. neoformans in vitro. It is noteworthy that TTS-12 and TTS-15 were very active against fluconazole-resistant C. albicans (MIC80 = 4.4, 9.4 mg/ml), C. neoformans (MIC80 =10.7, 18.7 mg/ml) and inherently resistant C. krusei (MIC80 =8.8, 18.4 mg/ml). So in vivo activity of TTS-12 in a vaginal infection model with fluconazole-resistant C. albicans was studied in particular. Our studies revealed TTS-12 also showed in vivo activities against fluconazole-resistant yeasts. In conclusion, steroid saponins TTS-12 and TTS-15 from Tribulus terrestris L. have significant in vitro antifungal activity against fluconazole-resistant fungi, especially TTS-12 also showed in vivo activity against fluconazole-resistant C. albicans. 相似文献
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20.
Joey Kuok Hoong Yam Thet Tun Aung Song Lin Chua Yingying Cheng Gurjeet Singh Kohli Jianuan Zhou Florentin Constancias Yang Liu Zhao Cai May Margarette Santillan Salido Daniela I. Drautz-Moses Scott A. Rice Stephan Christoph Schuster Zhao Zhi Boo Bin Wu Staffan Kjelleberg Tim Tolker-Nielsen Rajamani Lakshminarayanan Roger W. Beuerman Liang Yang Michael Givskov 《Infection and immunity》2022,90(8)