1.The Abnormal Karyotype Spectrum, Disease Correlation and Characteristics of High-frequency Gene Mutations in Patients with Lymphohematopoietic System Diseases
Feicheng YANG ; Jie HU ; Qing HU ; Yanchun LI ; Xiao LIU ; Xiaming TAN
Journal of Sun Yat-sen University(Medical Sciences) 2026;47(2):306-314
ObjectiveTo analyze the characteristics of chromosomal variations and disease spectrum in patients with lymphohematopoietic system diseases in Hunan region. MethodsA cross-sectional study was conducted, collecting clinical data of 548 patients with lymphohematopoietic system diseases who underwent bone marrow chromosome karyotype analysis at Hunan Provincial People's Hospital from January 2021 to July 2025. G-banding technique was used to detect bone marrow chromosome karyotypes, and chromosome number and structural abnormalities were determined in accordance with the International System for Human Cytogenomic Nomenclature (ISCN) 2024. Retrospective statistical analysis was performed to correlate karyotype abnormality data with disease phenotypes such as myelodysplastic syndrome and acute/chronic leukemia. Classification of the types, frequencies, and reproducibility of variations was calculated to clarify the correlation between karyotypes and disease phenotypes. ResultsAmong the 548 patients who completed bone marrow chromosome karyotype analysis, 127 had chromosomal abnormalities (84 males and 43 females, mean age 58.26 years). Among patients with autosomal abnormalities, 64 cases were detected with translocations (a total of 67 mutations), with t(9;22)(q34;q11.2) (22 cases) and t(15;17)(q24;q21) (10 cases) as high-frequency translocations. Chromosomes 9, 15, etc. were high-frequency variant chromosomes, and 29 cases had complex mutations such as deletions/duplications, with +8 being the common type. There were 27 cases of sex chromosome abnormalities: 7 cases of X chromosome abnormalities (2 cases of chimerism) and 20 cases of Y chromosome deletions (7 cases of 45,X,-Y/46,XY chimerism). Karyotype-disease correlation showed that t(9;22) was detected 9 times in acute leukemia and 8 times in chronic myeloid leukemia; +8, -Y, etc. were associated with multiple types of hematological diseases, and the same karyotype could correspond to multiple disease phenotypes. ConclusionThe high-frequency chromosomal abnormalities, karyotype-disease correlations, and high-frequency NGS genes in patients with lymphohematopoietic system diseases, providing a basis for their precise diagnosis and treatment.
2.Reform in the course on General Biology in application-oriented universities.
Ying LI ; Liang ZHOU ; Xiaming CHEN
Chinese Journal of Biotechnology 2022;38(4):1662-1670
General Biology is basic discipline in Environmental Science and Engineering, which lays a basis for the specialized courses in this major. As the course involves a wide range of knowledge, traditional "cramming education" cannot attract the interest of students. To meet the needs of talents against the backdrop of "double world-class project", our teaching team applied the "double-cycle teaching mode" of blended teaching in the first class along with ideological education, professional education, innovation and entrepreneurship education in the second class of this course. With this method, major headway has been made in this course. This study is expected to serve as a reference for reform in other relevant courses.
Biology
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Curriculum
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Humans
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Students
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Universities

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