目的应用SNP芯片检测方法,对染色体结果为46,XX,add(2)(q37)的1例新生儿多发畸形患儿进行全基因组拷贝数变异(copy number variants,CNVs)的检测,分析其中罕见CNVs与表型的相关性。方法对于1例新生儿多发畸形病例,采用Affymetrix SNP芯...目的应用SNP芯片检测方法,对染色体结果为46,XX,add(2)(q37)的1例新生儿多发畸形患儿进行全基因组拷贝数变异(copy number variants,CNVs)的检测,分析其中罕见CNVs与表型的相关性。方法对于1例新生儿多发畸形病例,采用Affymetrix SNP芯片筛查全基因组CNVs,经过筛选得到罕见潜在致病性CNVs。将这些CNVs片段结合患儿的表型进行文献比对。结果本例患儿的主要表型包括:小耳畸形、外耳廓卷曲、小下颌、颈蹼、双手通贯掌、双足内翻、室间隔缺损、动脉导管未闭、卵圆孔未闭、肺动脉高压、二尖瓣狭窄、脊柱后凸畸形。本例患儿共得到潜在致病性CNVs片段4个,大小为4 282.936kb^17 912.863kb,集中在2号、4号染色体长臂,邻近合并后得到2个,分别为2q37.1~q37.3缺失和4q32.3~q35.2重复。文献回顾,发现本例患儿耳部、心脏、骨骼畸形等表型与2q37缺失综合征有关;而更多相应表型如耳部、下颌、颈部畸形和通贯掌、足内翻、心脏畸形、脊柱畸形则与4q部分三体综合征有交叉。结论本研究首次报道了1例罕见的2q37缺失综合征合并4q部分三体综合征的复杂染色体变异。展开更多
AIM: To search candidate tumor suppressor genes (TSGs) on chromosome 4q through detecting high loss of heterozygosity (LOH) regions in sporadic colorectal carcinoma in Chinese patients. METHODS: Thirteen fluorescent l...AIM: To search candidate tumor suppressor genes (TSGs) on chromosome 4q through detecting high loss of heterozygosity (LOH) regions in sporadic colorectal carcinoma in Chinese patients. METHODS: Thirteen fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by polymerase chain reaction (PCR). PCR products were eletrophoresed on an ABI 377 DNA sequencer. Genescan 3.7 and Genotype 3.7 software were used for LOH scanning and analysis. Comparison between LOH frequency and clinicopathological factors were performed by χ2 test. RESULTS: Data were collected on all informative loci. The average LOH frequency on 4q was 28.56%. The D4S2915 locus showed highest LOH frequency (36.17%). Two obvious deletion regions were detected: one between D4S3000 and D4S2915 locus (4q12-21.1), another flanked by D4S407 and D4S2939 locus (4q25-31.1). None case showed complete deletion of 4q, most cases displayed interstitial deletion pattern solely. Furthermore, compared with clinicopathological features, a significant relationship was observed between LOH frequencies on D4S3018locus. In tumors larger than 5 cm in diameter, LOH frequency was significantly higher than tumors that were less than 5 cm (56% vs 13.79%, P = 0.01). On D4S1534 locus, LOH was significantly associated with liver metastasis (80% vs 17.25%, P = 0.012). No relationship was detected on other locus compared with clinicopathologial features. CONCLUSION: By high resolution deletion mapping, two high frequency regions of LOH (4q12-21.1 and 4q25-31.1) were detected, which may contribute to locate TSGs on chromosome 4q involved in carcinogenesis and progression of sporadic colorectal carcinoma.展开更多
The paper deals with the power quality analysis of interlaced four quadrant (4Q) converters with constant switching frequency. These are in fact the input stages of the locomotives and high speed trains supplied by 25...The paper deals with the power quality analysis of interlaced four quadrant (4Q) converters with constant switching frequency. These are in fact the input stages of the locomotives and high speed trains supplied by 25 kV, 50 Hz and 15 kV, 16.7 Hz lines. Due to the high power needed for the trains circulation, the 4Q converter can absorb distorted currents, whose harmonic content can affect the signaling systems and communication devices. The presence of more converters gives the opportunity, using dedicated commutation strategy, to interlace them in order to reduce the harmonic content in the absorbed current. In the paper a suitable model of more 4Q converters is developed. The control logic implemented in the model allows the evaluation of the harmonic contribution of both single converter and the interlaced configuration. The analysis is carried out through electromagnetic transient simulations.展开更多
基金The National Natural Science Foundation of China, No. 30080016 and No. 30470977
文摘AIM: To search candidate tumor suppressor genes (TSGs) on chromosome 4q through detecting high loss of heterozygosity (LOH) regions in sporadic colorectal carcinoma in Chinese patients. METHODS: Thirteen fluorescent labeled polymorphic microsatellite markers were analyzed in 83 cases of colorectal carcinoma and matched normal tissue DNA by polymerase chain reaction (PCR). PCR products were eletrophoresed on an ABI 377 DNA sequencer. Genescan 3.7 and Genotype 3.7 software were used for LOH scanning and analysis. Comparison between LOH frequency and clinicopathological factors were performed by χ2 test. RESULTS: Data were collected on all informative loci. The average LOH frequency on 4q was 28.56%. The D4S2915 locus showed highest LOH frequency (36.17%). Two obvious deletion regions were detected: one between D4S3000 and D4S2915 locus (4q12-21.1), another flanked by D4S407 and D4S2939 locus (4q25-31.1). None case showed complete deletion of 4q, most cases displayed interstitial deletion pattern solely. Furthermore, compared with clinicopathological features, a significant relationship was observed between LOH frequencies on D4S3018locus. In tumors larger than 5 cm in diameter, LOH frequency was significantly higher than tumors that were less than 5 cm (56% vs 13.79%, P = 0.01). On D4S1534 locus, LOH was significantly associated with liver metastasis (80% vs 17.25%, P = 0.012). No relationship was detected on other locus compared with clinicopathologial features. CONCLUSION: By high resolution deletion mapping, two high frequency regions of LOH (4q12-21.1 and 4q25-31.1) were detected, which may contribute to locate TSGs on chromosome 4q involved in carcinogenesis and progression of sporadic colorectal carcinoma.
文摘The paper deals with the power quality analysis of interlaced four quadrant (4Q) converters with constant switching frequency. These are in fact the input stages of the locomotives and high speed trains supplied by 25 kV, 50 Hz and 15 kV, 16.7 Hz lines. Due to the high power needed for the trains circulation, the 4Q converter can absorb distorted currents, whose harmonic content can affect the signaling systems and communication devices. The presence of more converters gives the opportunity, using dedicated commutation strategy, to interlace them in order to reduce the harmonic content in the absorbed current. In the paper a suitable model of more 4Q converters is developed. The control logic implemented in the model allows the evaluation of the harmonic contribution of both single converter and the interlaced configuration. The analysis is carried out through electromagnetic transient simulations.
