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991.
Fryns JP, Vogels A, Decock P, Van den Berghe H. The hand-foot-genital syndrome: on the variable expression in affected males.
Clin Genet 1993: 43: 232–234. © Munksgaard, 1993
In this report we document male-to-male transmission in the hand-foot-genital syndrome. An affected father transmitted the syndrome to his three sons. A grade IV hypospadias, which was the most severe genital anomaly in affected males, was present in the youngest, moderately mentally retarded microcephalic male sibling. 相似文献
Clin Genet 1993: 43: 232–234. © Munksgaard, 1993
In this report we document male-to-male transmission in the hand-foot-genital syndrome. An affected father transmitted the syndrome to his three sons. A grade IV hypospadias, which was the most severe genital anomaly in affected males, was present in the youngest, moderately mentally retarded microcephalic male sibling. 相似文献
992.
Transformation of primary rat kidney cells with specific genome fragments of oncogenic human adenovirus type 12 provides a suitable model for the study of separate phenotypic manifestations of (tumorigenic) transformation. In this model, oncogenic transformation by specific virus fragments was accompanied by the appearance of a new, high-molecular-weight class of glycoprotein-bound carbohydrates similar as observed in a variety of spontaneous and experimental tumors. These tumor-associated carbohydrate changes were absent on the surface of nontumorigenic cells, morphologically transformed by other Ad 12 genome fragments or on untransformed control cells. It is concluded that tumor-associated changes in membrane carbohydrates are expressed simultaneously with a 60kD T antigen required for oncogenicity. These changes in carbohydrate composition can be distinguished from those induced by morphological transformation and growth per se. 相似文献
993.
994.
Kok Yvette J.M.de; Merkx Gerard F.M.; van der Maarel Silvere M.; Huber Irene; Malcolm Susan; Ropers Hans-Hilger; Cremers Frans P.M. 《Human molecular genetics》1995,4(11):2145-2150
X-linked deafness with stapes fixation (DFN3) is caused by mutationsin the POU3F4 gene at Xq21.1. By employing pulsed field gelelectrophoresis (PFGE) we identified a chromosomal aberrationin the DNA of a DFN3 patient who did not show alterations inthe open reading frame (ORF) of POU3F4. Southern blot analysisindicated that a DNA segment of 150 kb, located 170 kb proximalto the POU3F4 gene, was duplicated. Fluorescence in situ hybridization(FISH) analysis, PFGE, and detailed Southern analysis revealedthat this duplication is part of a more complex rearrangementincluding a paracentric inversion involving the Xq21.1 region,and presumably the Xq21.3 region. Since at least two DFN3-associatedminideletions are situated proximal to the duplicated segment,the inversion most likely disconnects the POU3F4 gene from aregulatory element which is located at a distance of at least400 kb upstream of the POU3F4 gene. 相似文献
995.
Non-lymphoid and lymphoid cells in acute, chronic and relapsing experimental colitis. 总被引:1,自引:2,他引:1 下载免费PDF全文
M J Palmen L A Dieleman M B van der Ende A Uyterlinde A S Pea S G Meuwissen E P van Rees 《Clinical and experimental immunology》1995,99(2):226-232
In rodents, intracolonic administration of ethanol 30% induces an acute colitis, while administration of 2,4,6-trinitrobenzene sulphonic acid (TNBS) in ethanol induces a longer lasting colitis. In the acute and chronic stages of experimental colitis, lymphoid and non-lymphoid cells were studied in the colon by immunohistochemistry. During the acute inflammation a high damage score of the colon was observed, which was related to an increase in the number of macrophages and granulocytes. Also a change in distributional patterns of macrophage subpopulations was found. The chronic stage of TNBS-ethanol-induced colitis was characterized by an increase in the number of lymphocytes, especially T cells. These data suggest that macrophages and granulocytes are important in the acute phase of experimental colitis, while lymphocytes play a pivotal role in the chronic stage. As most inflammatory bowel disease (IBD) patients have relapses during the chronic disease, we attempted to induce a relapse during experimental colitis by giving a second i.p. or s.c. dose of TNBS. This resulted in increased damage scores of the colon, new areas of ulceration and a further increase in macrophage numbers. No effect on the number of granulocytes was seen. These results indicate that it is possible to mimic relapses in experimental colitis by a second administration of TNBS, and suggest that the rats had been sensitized by the first dose of TNBS, given into the colon. 相似文献
996.
997.
Strong association between HLA-Cw*0706 and HLA-B*44032 in the Bubi population from Equatorial Guinea
van der Vlies SA Voorter CE de Pablo R Vilches C van den Berg-Loonen EM 《Tissue antigens》2000,55(1):57-60
Unrelated Bubi, native to the island of Bioko (Equatorial Guinea), were previously typed by low-resolution polymerase chain reaction using sequence-specific primers (PCR-SSP) and serology for HLA-A, -B and -C. HLA-B*44 was found frequently and associated with Cw*07. We have studied the HLA subtypes of 20 B*44pos/Cw*07pos Bubi individuals. HLA-B and -C were typed by sequencing exons 2 and 3. To distinguish the alleles Cw*1701/02/03, Cw*07011/012/06 and Cw*1801/02 additional sequencing of exon 1 or 5 was performed. All 20 B*44pos/Cw*07pos individuals of the Bubi population were typed Cw*0706 positive. Nineteen of them carried the B*44032 allele and one B*4407. In addition, 19 B*44neg/ Cw*07pos Bubi individuals were typed for HLA-C and none of them proved Cw*0706 positive. To determine whether the association between Cw*0706 and B*44032 was limited to the Bubi, 19 individuals from Dutch Caucasian families were typed in which B44 and Cw7 segregated on one haplotype. None of these individuals showed the presence of B*44032 or Cw*0706. The haplotypes found in the Dutch Caucasians were B*4402-Cw*0704, B*44031-Cw*07011 and B*44031-Cw*0702. The present observation indicates a strong association between B*44032 and Cw*0706 in the Bubi population. 相似文献
998.
Previously, we reported that PorA expression in Neisseria meningitidis is modulated by variation in the length of the homopolymeric tract of guanidine residues between the -35 and -10 regions of the promoter or by deletion of porA. To reveal additional mechanisms of variation in PorA expression, the meningococcal isolates from 41 patients and 19 carriers were studied. In addition, at least 3 meningococcal isolates from different body parts of each of 11 patients were analyzed. Sequence analysis of the porA promoter showed that the spacer between the -35 and -10 regions varies in length between 14 and 24 bp. PorA expression was observed in strains with a porA promoter spacer of 16 to 24 bp. All but one strain with a porA promoter spacer of 16 to 20 bp and undetectable PorA expression have a homopolymeric tract of 8 or 6 instead of 7 adenine residues in the porA coding region. The other PorA-negative strain had a single-base-pair deletion in the coding region. The highest level of PorA expression was observed in strains with a promoter spacer of 17 or 18 bp. PorA expression was reduced twofold in strains with a porA promoter spacer of 16 or 19 bp. Strains with a 16-bp promoter spacer with substitutions in the polyguanidine tract displayed increased levels of PorA expression compared to strains with a homopolymeric tract of guanidine residues in the porA promoter. In conclusion, meningococci display multiple mechanisms for varying PorA expression. 相似文献
999.
Sciot R Dal Cin P Samson I van den Berghe H Van Damme B 《Virchows Archiv : an international journal of pathology》1999,434(2):177-180
Cytogenetic analysis of a juxta-articular myxoma revealed two distinct cytogenetically abnormal cell populations: inv(2)(p15q36)
and +7, t(8;22)(q11–12; q12–13). These clonal chromosomal changes, the first to be reported in this tumour type, suggest that
at least some juxta-articular myxomas are neoplastic rather than reactive in nature.
Received: 8 June 1998 / Accepted: 17 August 1998 相似文献
1000.
Del-Favero J; Krols L; Michalik A; Theuns J; Lofgren A; Goossens D; Wehnert A; Van den Bossche D; Van Zand K; Backhovens H; van Regenmorter N; Martin JJ; Van Broeckhoven C 《Human molecular genetics》1998,7(2):177-186
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCAII) was
previously mapped by linkage analysis studies to chromosome 3p12- p21.1
(SCA7). Positional cloning efforts have recently identified a novel gene,
SCA7 , containing a translated CAG repeat, expanded in SCA7 patients. We
cloned the SCA7 gene from a yeast artificial chromosome (YAC) clone contig
spanning the SCA7 candidate region. Using a combination of genomic
sequencing and cosmid-based exon trapping, two expressed sequence tags were
identified. Sequencing of the corresponding cDNA clones and RT-PCR analysis
identified the full- length SCA7 cDNA. Together, our sequence data defined
the intron/exon boundaries of the first two coding exons of the SCA7 gene,
with the first exon containing the expanded CAG repeat. Further, sequence
comparison with the published SCA7 cDNA identified one additional putative
exon in the 5'-UTR region of the SCA7 gene. The SCA7 gene was mapped on the
YAC contig in the 2.5 cM interval between D3S1600 and D3S1287. In one
extended Belgian SCA7 pedigree the expanded alleles ranged from 38 to at
least 55 repeats with allele lengths being inversely correlated with onset
age of ADCAII symptoms. The SCA7 repeats increased in length in successive
generations. Normal alleles had from four to 18 repeats, with 10 repeats
being the most common allele.
相似文献