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Issues in the Reconstruction of Gene Order Evolution

Journal of Computer Science & Technology 2010年第1期25卷 10-25页

作者： David Sankoff 郑春芳 Adriana Muoz 杨振宇 Zaky Adam Robert Warren 蔡维仁祝谦 Department of Mathematics and Statistics University of Ottawa Department of Biology University of Ottawa Dpartement d'informatique et de recherche oprationnelle Universit de Montral School of Information Technology and Engineering University of Ottawa Canada5Biology Department The Pennsylvania State University University Park Department of Computer Science Virginia Polytechnic Institute Falls Church Department of Biochemistry University of Ottawa Department of Computer Science Princeton University

As genomes evolve over hundreds of millions years, the chromosomes become rearranged, with segments of some chromosomes inverted, while other chromosomes reciprocally exchange chunks from their ends. These rearrangements lead to the scrambling of the elements of one genome with respect to another descended from a common ancestor. Multidisciplinary work undertakes to mathematically model these processes and to develop statistical analyses and mathematical algorithms to understand the scrambling in the chromosomes of two or more related genomes. A major focus is the reconstruction of the gene order of the ancestral genomes.

关键词： chromosome rearrangement comparative genomics gene clusters phylogenomics

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Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities

Reproductive outcomes in recurrent pregnancy loss associated...

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第十二次全国医学遗传学学术会议

作者： Yuan Dong Lei-Lei Li Rui-Xue Wang Xiao-Wei Yu Xin Yu Rui-Zhi Liu Center for Reproductive Medicine Center for Prenatal DiagnosisFirst HospitalJilin University Department of Cell Biology Norman Bethune College of Medicine Jilin University

Objective:To compare the subsequent reproductive outcomes in couples with a history of recurrent pregnancy loss(RPL) associated with and without chromosome abnormalities. Methods:A retrospective cohort and case-control study were *** karyotype analysis was performed on 2720 couples with RPL using standard GTG-banding,C-banding and *** means of a questionnaire,the clinical features and detailed obstetric history were *** reproductive outcomes were recorded through telephone interviews for at least 12 months after chromosome *** carriers’ family members were recalled back to be interviewed about reproductive history and performed karyotype ***:Among the 2720 RPL couples,there were 137 carrier couples with chromosomal abnormalities(5.04%, 137/2720),including 74 cases of structural chromosome rearrangements(2.72%),55 cases of polymorphisms(2.02%) and *** the 339 participant couples,the delivery rate in normal chromosome group was slightly higher than all chromosomal abnormality group(56.7%vs 51.3%, P=0.357);the miscarriage and unpregnancy rate were a little lower(11.9%vs 13.3%,P=0.729;31.5%vs 35.4%,P=0.464),although the differences were not statistically *** types of chromosome abnormality groups were also followed by similar subsequent reproductive outcomes(P>0.05).Through the pedigree analysis,chromosomal abnormalities of 17 carriers were inherited from one of their parents,another one was de novo and inherited from his mother ***,most of their parents did not have the same history of ***: Couples with RPL associated with parental chromosomal abnormalities do not have significantly lower live birth rate than non-carrier *** karyotype analysis might not be a good predictor of the subsequent reproductive outcomes.

关键词： chromosome rearrangement chromosome abnormality Recurrent pregnancy loss Miscarriage Polymorphism Stillbirth

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