Segmental duplications on rice (Oryza sativa L.) chromosomes 8, 9, 11, and 12 were studied by examining the distributions of sequences resolved by 13 probes detecting multiple copies of DNA sequences. Four of the hyb...Segmental duplications on rice (Oryza sativa L.) chromosomes 8, 9, 11, and 12 were studied by examining the distributions of sequences resolved by 13 probes detecting multiple copies of DNA sequences. Four of the hybridization bands detected by a repetitive sequence probe, rTRS, were mapped to the ends of all the four chromosomes. Two or three of the bands detected by each of the other 12 probes were also mapped to different chromosomes. The bands detected by the same probe usually occurred in similar locations of different chromosomes. Loci detected by different DNA probes were often similarly arranged on different chromosomes. Chromosomes 8 and 9 showed colinearity of marker loci arrangement indicating a possible common origin. A segment on chromosome 9 was also very similar to the previously reported duplicated fragments on the ends of chromosomes 11 and 12 which were also detected in this study, indicating a likely common origin. Moreover, the various degrees of distributional similarity of the segments suggest a complex relationship among the chromosomes in the evolution of the rice genome. These results support the proposition that chromosome duplication and diversification may be a mechanism for the origin and evolution of the chromosomes in the rice genome.展开更多
Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a ...Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 2 para 0. Her first pregnancy at 2012 was diagnosed to be dichorionic twin pregnancy and her second pregnancy at 2014 was a singleton pregnancy. After a routine ultrasound scan at 22 week＇s gestation, all the fetuses were diagnosed with critical CHDs. The first fetus （male） exhibited tetralogy of Fallot, atrial septal defect, persistent left superior vena cava, and coronary sinus dilatation while the examination of the second fetus （male） revealed atrioventricular septal detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.展开更多
文摘Segmental duplications on rice (Oryza sativa L.) chromosomes 8, 9, 11, and 12 were studied by examining the distributions of sequences resolved by 13 probes detecting multiple copies of DNA sequences. Four of the hybridization bands detected by a repetitive sequence probe, rTRS, were mapped to the ends of all the four chromosomes. Two or three of the bands detected by each of the other 12 probes were also mapped to different chromosomes. The bands detected by the same probe usually occurred in similar locations of different chromosomes. Loci detected by different DNA probes were often similarly arranged on different chromosomes. Chromosomes 8 and 9 showed colinearity of marker loci arrangement indicating a possible common origin. A segment on chromosome 9 was also very similar to the previously reported duplicated fragments on the ends of chromosomes 11 and 12 which were also detected in this study, indicating a likely common origin. Moreover, the various degrees of distributional similarity of the segments suggest a complex relationship among the chromosomes in the evolution of the rice genome. These results support the proposition that chromosome duplication and diversification may be a mechanism for the origin and evolution of the chromosomes in the rice genome.
基金This work was supported by grants from the National Natural Science Foundation of China （N o. 81071159）, Beijing Municipal Science and Technology Commission （No. Z 141107002514006） and Beijing Municipal Administration of Hospital Clinical Medicine Development of Special Foundation （No, XMLX201310）.
文摘Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 2 para 0. Her first pregnancy at 2012 was diagnosed to be dichorionic twin pregnancy and her second pregnancy at 2014 was a singleton pregnancy. After a routine ultrasound scan at 22 week＇s gestation, all the fetuses were diagnosed with critical CHDs. The first fetus （male） exhibited tetralogy of Fallot, atrial septal defect, persistent left superior vena cava, and coronary sinus dilatation while the examination of the second fetus （male） revealed atrioventricular septal detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.
