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Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples

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Journal of Genetics and Genomics 2016年第3期43卷 121-131页

作者： Qinghua Zhou Shen-Yin Wu katherine amato Autumn DiAdamo Peining Li The First Affiliated Hospital The Biomedical Translational Research Institute Jinan University Guangzhou 510632 China Department of Genetics Yale University School of Medicine New Haven CT 06520 USA

Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants （CNVs） in products of conception （POC） and the underlying gene- dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genornic hybridiza- tion （aCGH） analysis was performed as a salvage procedure for 128 POC culture failure （POC-CF） samples and as a supplemental procedure for 106 POC normal karyotype （POC-NK） samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate （ADR） of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis （IPA） was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomai trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization （FISH） testing with probes of chromosomes X/Y/ 18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.

关键词： Products of conception (POC) Culture failure Normal karyotype Array comparative genomic hybridization (aCGH) Chromosomal andgenomic abnormalities Apoptosis

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Specialized digestive adaptations within the hindgut of a colobine monkey

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The Innovation 2022年第2期3卷 103-109页

作者： Rui Liu katherine amato Rong Hou Andres Gomez Derek W.Dunn Jun Zhang Paul A.Garber Colin A.Chapman Nicoletta Righini Gang He Gu Fang Yuhang Li Baoguo Li Songtao Guo Shaanxi Key Laboratory for Animal Conservation School of Life SciencesNorthwest UniversityXi’an 710069China Department of Anthropology Northwestern UniversityEvanstonIL 60208USA Department of Animal Science University of Minnesota Twin CitiesSt.PaulMN 55455USA Department of Anthropology and Program in EcologyEvolution and Conservation BiologyUniversity of Illinois at Urbana-ChampaignUrbana-ChampaignIL 61801USA Center for the Advanced Study of Human Paleobiology Department of AnthropologyThe George Washington UniversityWashingtonDC 20037USA School of Life Sciences University of KwaZulu-NatalScottsvillePietermaritzburg 3209South Africa Instituto de Investigaciones en Comportamiento Alimentario y Nutrición(IICAN) Universidad de Guadalajara49000 Ciudad GuzmánJaliscoMexico

In mammal herbivores,fiber digestion usually occurs predominantly in either the foregut or the *** of mechanisms showing synergistic function in both gut regions for the digestion of fiber and other nutrients in wild mammals are rare because it requires integrative study of anatomy,physiology,and gut *** monkeys(Colobinae)are folivorous,with high-fiber foods fermented primarily in their foreguts.

关键词： anatomy gut primarily

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Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples

Spectrum of Cytogenomic Abnormalities Revealed by Array Comp...

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第十四次全国医学遗传学学术会议

作者： Qinghua Zhou Shen-Yin Wu katherine amato Autumn Diadamo Peining Li The First Affiliated Hospital The Biomedical Translational Research InstituteJinan University Department of Genetics Yale University School of Medicine

Approximately 30%of pregnancies after implantation end up in spontaneous abortions,and 50%of them are caused by chromosomal ***,the spectrum of genomic copy number variants(CNVs)in products of conception(POC)and the underlying gene-dosage-sensitive mechanisms causing spontaneous abortions remain largely *** this study,array comparative genomic hybridization(aCGH)analysis was performed as a salvage procedure for 128 POC culture failure(POC-CF)samples and as a supplemental procedure for 106 POC normal karyotype(POC-NK)*** abnormalities were detected in 10%of POC-CF and pathogenic CNVs were detected in 3.9%of POC-CF and 5.7%of POC-NK *** results from this study and relevant case series through a literature review demonstrated an abnormality detection rate(ADR)of 35%for chromosomal abnormalities in POCCF,3.7%for pathogenic CNVs in POC-CF,and 4.6%for pathogenic CNVs in *** Ingenuity Pathway Analysis(IPA)was performed on the gene content from pathogenic CNVs found in POC *** denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in *** summary,a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples.A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomal trisomy is proposed.A rationalized approach using firstly FISH testing with probes of chromosomes X/Y/18,13/21,and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.

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