Bệnh lý di truyền do đột biến gen

Bệnh di truyền là nhóm bệnh lý có nguyên nhân do bất thường trong cấu trúc di truyền của một cá thể. Những bất thường về di truyền có thể dao động từ rất nhỏ cho đến rất lớn, từ một đột biến đơn gen của phân tử ADN bất thường nhiễm sắc thể (NST) về số lượng, cấu trúc hay toàn bộ NST ở người.

Bệnh di truyền có thể di truyền từ bố mẹ sang con cái hoặc do các đột biến mới phát sinh. Bệnh di truyền được chia thành 4 nhóm lớn dựa trên căn nguyên gây ra bệnh:

* Bệnh lý nhiễm sắc thể

* Bệnh di truyền đơn gen, đa gen

* Bệnh di truyền đa nhân tố

* Bệnh di truyền ty thể

Để hiểu rõ hơn Cục Thông tin khoa học và công nghệ quốc gia xin giới thiệu một số bài nghiên cứu đã được xuất bản chính thức và các bài viết được chấp nhận đăng trên những cơ sở dữ liệu học thuật chính thống.

1. Sciencedirect

1. Associations between host genetic variants and Herpes Simplex Labialis in the TwinsUK cohort
Archives of Oral Biology 17 November 2022 Volume 145 (Cover date: January 2023) Article 105587
Pasquale Santamaria, Ruth C. E. Bowyer, Luigi Nibali
https://www.sciencedirect.com/science/article/pii/S0003996922002448/pdfft?md5=66e52b5594f4202368d9cacc76c02006&pid=1-s2.0-S0003996922002448-main.pdf

2. Highly efficient Runx1 enhancer eR1-mediated genetic engineering for fetal, child and adult hematopoietic stem cells
Gene 13 November 2022 Volume 851 (Cover date: 30 January 2023) Article 147049
Cai Ping Koh, Avinash Govind Bahirvani, Motomi Osato
https://www.sciencedirect.com/science/article/pii/S0378111922008691/pdfft?md5=9aa233b1a986b3df461867b9ab80f2ad&pid=1-s2.0-S0378111922008691-main.pdf

3. Prevalence and genetic analyses of Saprolegnia strains isolated from Nile tilapia farms at northern Egypt
Aquaculture 17 October 2022 Volume 563, Part 1 (Cover date: 30 January 2023) Article 738946
Samar A. El Gamal, Rawia Saad AdawyEman Zahran
https://www.sciencedirect.com/science/article/pii/S0044848622010638/pdfft?md5=48721f3b2e91f40cb2d940ceddc38af8&pid=1-s2.0-S0044848622010638-main.pdf

4. Therapeutic approaches in different congenital myopathies
Current Opinion in Pharmacology 10 December 2022 Volume 68 (Cover date: February 2023) Article 102328
Charlotte Gineste, Jocelyn Laporte
https://www.sciencedirect.com/science/article/pii/S1471489222001552/pdfft?md5=91bb12e661522a38fa777f3a0ba9ea2d&pid=1-s2.0-S1471489222001552-main.pdf

5. Genetic influences on human blood metabolites in the Japanese population
iScience 6 December 2022 Volume 26, Issue 1 (Cover date: 20 January 2023) Article 105738
Takeshi Iwasaki, Yoichiro Kamatani, Fumihiko Matsuda
https://www.sciencedirect.com/science/article/pii/S2589004222020119/pdfft?md5=62bf5942ebab266ed69111441e2ef2f7&pid=1-s2.0-S2589004222020119-main.pdf

6. Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary
European Journal of Medical Genetics 13 November 2022 Volume 66, Issue 1 (Cover date: January 2023) Article 104668
Ewelina Bukowska-Olech, Filip Glista, Aleksander Jamsheer
https://www.sciencedirect.com/science/article/pii/S176972122200249X/pdfft?md5=6217ddd07a432262a0d82624175aabc9&pid=1-s2.0-S176972122200249X-main.pdf

7. Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan
European Journal of Medical Genetics 19 November 2022 Volume 66, Issue 1 (Cover date: January 2023) Article 104667
Midori Kimura, Sawako Matsuzaki, Kiyoko Kato
https://www.sciencedirect.com/science/article/pii/S1769721222002488/pdfft?md5=eff6510fc90453df0c02f3e80deadf02&pid=1-s2.0-S1769721222002488-main.pdf

8. Trio-based exome sequencing broaden the genetic spectrum in keratoconus
Experimental Eye Research 9 December 2022 Volume 226 (Cover date: January 2023) Article 109342
Liyan Xu, Kaili Yang, Shengwei Ren
https://www.sciencedirect.com/science/article/pii/S0014483522004237/pdfft?md5=3a0b306f950c66323ccdf09a038e7283&pid=1-s2.0-S0014483522004237-main.pdf

9. Genetic regulation of circular RNA expression in human aortic smooth muscle cells and vascular traits
Human Genetics and Genomics Advances 30 November 2022 Volume 4, Issue 1 (Cover date: 12 January 2023) Article 100164
Redouane Aherrahrou, Dillon Lue, Mete Civelek
https://www.sciencedirect.com/science/article/pii/S2666247722000811/pdfft?md5=b2d1db445df4ea8e27af11d07205e7c3&pid=1-s2.0-S2666247722000811-main.pdf

10. The glucocerebrosidase mutations and uric acid levels in Parkinson’s disease: A 3-years investigation of a potential biomarker”
Clinical Parkinsonism & Related Disorders 17 December 2022 Volume 8 (Cover date: 2023) Article 100177
Mehrdad Mozafar, Sina Kazemian, Mahsa Mayeli
https://www.sciencedirect.com/science/article/pii/S2590112522000482/pdfft?md5=408e076db20b7554c05781ca9d4e1fa4&pid=1-s2.0-S2590112522000482-main.pdf

11. Insights from multi-omics integration in complex disease primary tissues
Trends in Genetics 19 September 2022 Volume 39, Issue 1 (Cover date: January 2023) Pages 46-58
Peter Kreitmaier, Georgia Katsoula, Eleftheria Zeggini
https://www.sciencedirect.com/science/article/pii/S0168952522002256/pdfft?md5=5a3b274f0ff732dc7123bd999d204252&pid=1-s2.0-S0168952522002256-main.pdf

12. Genetic analysis of production traits and body size measurements and their relationships with metabolic diseases in German Holstein cattle
Journal of Dairy Science 21 November 2022 Volume 106, Issue 1 (Cover date: January 2023) Pages 421-438
Christin Schmidtmann, Dierck Segelke, Georg Thaller
https://www.sciencedirect.com/science/article/pii/S0022030222006828/pdfft?md5=2aab5d0613e11dab2ec2171358f24939&pid=1-s2.0-S0022030222006828-main.pdf

13. Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos
Human Genetics and Genomics Advances19 November 2022Volume 4, Issue 1 (Cover date: 12 January 2023)Article 100160
Kurt D. Christensen, Mengran Zhang, Tamar Sofer
https://www.sciencedirect.com/science/article/pii/S266624772200077X/pdfft?md5=4c8060b3d578b7ed85af64029170ce53&pid=1-s2.0-S266624772200077X-main.pdf

14. Clonal hematopoiesis and cardiovascular diseases: role of JAK2V617F
Journal of Cardiology 12 February 2022 Volume 81, Issue 1 (Cover date: January 2023) Pages 3-9
Tomofumi Misaka, Yusuke Kimishima, Yasuchika Takeishi
https://www.sciencedirect.com/science/article/pii/S0914508722000247/pdfft?md5=97e229e6ce80124835a47c15536f6b77&pid=1-s2.0-S0914508722000247-main.pdf

15. Identification and classification of coronavirus genomic signals based on linear predictive coding and machine learning methods
Biomedical Signal Processing and Control 23 September 2022 Volume 80, Part 1 (Cover date: February 2023) Article 104192
Amin Khodaei, Parvaneh Shams, Behzad Mozaffari-Tazehkand
https://www.sciencedirect.com/science/article/pii/S1746809422006462/pdfft?md5=236f914c004e0bbc9770f8f6619f1194&pid=1-s2.0-S1746809422006462-main.pdf

16. A review on the potential effects of environmental and economic factors on sheep genetic diversity: Consequences of climate change
Saudi Journal of Biological Sciences 17 November 2022 Volume 30, Issue 1 (Cover date: January 2023) Article 103505
George Wanjala, Putri Kusuma Astuti, Szilvia Kusza
https://www.sciencedirect.com/science/article/pii/S1319562X22004211/pdfft?md5=8d1c537ae5876ab915d9754dd3033ed7&pid=1-s2.0-S1319562X22004211-main.pdf

17. Genetic diversity of Plasmodium vivax isolates from pregnant women in the Western Brazilian Amazon: A prospective cohort study
The Lancet Regional Health - Americas 2 December 2022 Volume 18 (Cover date: February 2023) Article 100407
Jamille Gregório Dombrowski, Holly Acford-Palmer, Claudio Romero Farias Marinho
https://www.sciencedirect.com/science/article/pii/S2667193X22002241/pdfft?md5=314c4d2d6c8841a58100b64b5252d706&pid=1-s2.0-S2667193X22002241-main.pdf

18. Insights into the genetic covariation between harvest survival and growth rate in olive flounder (Paralichthys olivaceus) under commercial production environment
Aquaculture and Fisheries 25 November 2021 Volume 8, Issue 2 (Cover date: March 2023) Pages 135-140
Yangzhen Li, Yuanri Hu, Weiwei Zheng
https://www.sciencedirect.com/science/article/pii/S2468550X21001507/pdfft?md5=149fd88996a2073f89c775cf14eb1703&pid=1-s2.0-S2468550X21001507-main.pdf

19. Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries
International Journal of Cardiology 13 September 2022 Volume 371 (Cover date: 15 January 2023) Pages 153-159
Odilia I. Woudstra, Doris Skoric-Milosavljevic, Michael W. T. Tanck
https://www.sciencedirect.com/science/article/pii/S0167527322013316/pdfft?md5=09899523b60d681c93b13aa641ef3b0f&pid=1-s2.0-S0167527322013316-main.pdf

20. Investigations on white spot disease reveal high genetic diversity of the fish parasite, Ichthyophthirius multifiliis (Fouquet, 1876) in China
Aquaculture 9 September 2022 Volume 562 (Cover date: 15 January 2023) Article 738804
Hao Yang, Xiao Tu, Zemao Gu
https://www.sciencedirect.com/science/article/pii/S0044848622009218/pdfft?md5=74da2505bb2143bcd93d98dcad4524f4&pid=1-s2.0-S0044848622009218-main.pdf

21. Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Cytokine30 November 2022Volume 162 (Cover date: February 2023)Article 156088
Karina ColonettiFilippo Pinto e VairoIda Vanessa Doederlein Schwartz
https://www.sciencedirect.com/science/article/pii/S1043466622002976/pdfft?md5=9fdde0523a390a27cda8ee9fd3fa150c&pid=1-s2.0-S1043466622002976-main.pdf

22. Circulating and skin biopsy-present cytokines related to the pathogenesis of cutaneous lupus erythematosus
Autoimmunity Reviews 20 December 2022 Volume 22, Issue 2 (Cover date: February 2023) Article 103262
Valeria Erazo-Martínez, Gabriel J. Tobón, Carlos A. Cañas
https://www.sciencedirect.com/science/article/pii/S1568997222002324/pdfft?md5=b85dc09492dc31889e7bfbc4cd615eb0&pid=1-s2.0-S1568997222002324-main.pdf

23. Population genetic and evolution analysis of Vibrio isolated from Turkish fish farms
Aquaculture 19 August 2022 Volume 562 (Cover date: 15 January 2023) Article 738728
Muhammed Duman, Noemí Buján, Izzet Burcin Saticioglu
https://www.sciencedirect.com/science/article/pii/S0044848622008456/pdfft?md5=68a7d86bd6912c0b037e1af26785b012&pid=1-s2.0-S0044848622008456-main.pdf

24. Clinical trials and promising preclinical applications of CRISPR/Cas gene editing
Life Sciences 17 November 2022 Volume 312 (Cover date: 1 January 2023) Article 121204
Barış ÇerçiIhsan Alp Uzay, Pervin Dinçer
https://www.sciencedirect.com/science/article/pii/S0024320522009043/pdfft?md5=97445af8f3bea3ededc10989a7961ecb&pid=1-s2.0-S0024320522009043-main.pdf

25. Molecular genetic characterization of Philadelphia chromosome-positive acute myeloid leukemia
Leukemia Research 16 December 2022 Volume 124 (Cover date: January 2023) Article 107002
Qianghua Zhou, Davidson Zhao, Hong Chang
https://www.sciencedirect.com/science/article/pii/S0145212622003782/pdfft?md5=ce679690333fe08b0b3ecb4a1187616d&pid=1-s2.0-S0145212622003782-main.pdf

26. Disentangling genetic variation for endurance and resistance to visceral white-nodules disease in large yellow croaker (Larimichthys crocea) using genome information
Aquaculture 11 November 2022 Volume 564 (Cover date: 15 February 2023) Article 739045
Zeyu Li, Ming Fang, Zhiyong Wang
https://www.sciencedirect.com/science/article/pii/S0044848622011620/pdfft?md5=3dde0b6b5934b7cc4f9d15767a9ddd3e&pid=1-s2.0-S0044848622011620-main.pdf

27. The role of genetic risk factors of Alzheimer's disease in synaptic dysfunction
Seminars in Cell & Developmental Biology 30 July 2022 Volume 139 (Cover date: April 2023) Pages 3-12
Wing-Yu Fu, Nancy Y. Ip
https://www.sciencedirect.com/science/article/pii/S1084952122002403/pdfft?md5=d2f1d9b9a008249239fc546edcb76a13&pid=1-s2.0-S1084952122002403-main.pdf

28. Genetic link between rheumatoid arthritis and autoimmune liver diseases: A two-sample Mendelian randomization study
Seminars in Arthritis and Rheumatism24 November 2022Volume 58 (Cover date: February 2023)Article 152142
Junyu FanTing JiangDongyi He
https://www.sciencedirect.com/science/article/pii/S0049017222001937/pdfft?md5=d91b88406957e6cf8bc740d0dd5773a2&pid=1-s2.0-S0049017222001937-main.pdf

29. Genetic and epigenetic defects of the RNA modification machinery in cancer
Trends in Genetics 12 November 2022 Volume 39, Issue 1 (Cover date: January 2023) Pages 74-88
Ines Orsolic, Arnaud Carrier, Manel Esteller
https://www.sciencedirect.com/science/article/pii/S0168952522002529/pdfft?md5=e04c506f356e86d86f7d341ea2a260f2&pid=1-s2.0-S0168952522002529-main.pdf

30. Predicting time-to-conversion for dementia of Alzheimer's type using multi-modal deep survival analysis
Neurobiology of Aging 17 October 2022 Volume 121 (Cover date: January 2023) Pages 139-156
Ghazal Mirabnahrazam, Da Ma, Mirza Faisal Beg
https://www.sciencedirect.com/science/article/pii/S0197458022002196/pdfft?md5=6fa730709434c3b061a83434e25ad585&pid=1-s2.0-S0197458022002196-main.pdf

31. Mitochondrial copper in human genetic disorders
Trends in Endocrinology & Metabolism 23 November 2022 Volume 34, Issue 1 (Cover date: January 2023) Pages 21-33
Natalie M. Garza, Abhinav B. Swaminathan, Vishal M. Gohil
https://www.sciencedirect.com/science/article/pii/S1043276022001990/pdfft?md5=760eab81ede46324358020daae35f9b6&pid=1-s2.0-S1043276022001990-main.pdf

32. Genetic screening of MMP1 as a potential pathogenic gene in chronic obstructive pulmonary disease
Life Sciences 26 November 2022 Volume 313 (Cover date: 15 January 2023) Article 121214
Erkang Yi, Weitao Cao, Pixin Ran
https://www.sciencedirect.com/science/article/pii/S0024320522009146/pdfft?md5=da7fdb9ee7a3512145a555e6a715c6cf&pid=1-s2.0-S0024320522009146-main.pdf

33. Influence of genetic variants and mRNA expression of interleukin IL17A gene in asthma susceptibility
Gene 16 December 2022 Volume 854 (Cover date: 20 February 2023) Article 147119
Soujanya Ganta, Prasanna Latha Komaravalli, Suman Latha Gaddam
https://www.sciencedirect.com/science/article/pii/S0378111922009398/pdfft?md5=89b291013c2339698bcfd2d1959b9727&pid=1-s2.0-S0378111922009398-main.pdf

34. Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies
Pediatric Neurology 26 October 2022 Volume 138 (Cover date: January 2023) Pages 71-80
Isabel Haviland, Carolyn I. Daniels, Heather E. Olson
https://www.sciencedirect.com/science/article/pii/S0887899422002223/pdfft?md5=ebc867cdd66b362307f961d5a5ed5533&pid=1-s2.0-S0887899422002223-main.pdf

35. Genetic susceptibility, homocysteine levels, and risk of all-cause and cause-specific mortality: A prospective cohort study
Clinica Chimica Acta 5 November 2022 Volume 538 (Cover date: 1 January 2023) Pages 1-8
Tingting Mo, Pinpin Long, Tangchun Wu
https://www.sciencedirect.com/science/article/pii/S0009898122013596/pdfft?md5=069aa0a9cd6d2866df361bbfe81b039b&pid=1-s2.0-S0009898122013596-main.pdf

36. Genetic characterization of genes encoding the major surface proteins of Anaplasma marginale from cattle isolates in Thailand reveals multiple novel variants
Ticks and Tick-borne Diseases 16 December 2022 Volume 14, Issue 2 (Cover date: March 2023) Article 102110
Apinya Arnuphapprasert, Yudhi Ratna Nugraheni, Morakot Kaewthamasorn
https://www.sciencedirect.com/science/article/pii/S1877959X22002126/pdfft?md5=6c819364e346e07d240548283239b9dd&pid=1-s2.0-S1877959X22002126-main.pdf

37. Non-invasive diagnosis of endometriosis: Immunologic and genetic markers
Clinica Chimica Acta 12 November 2022 Volume 538 (Cover date: 1 January 2023) Pages 70-86
Seyed Moein Mahini, Mohammad Younesi, Navid Jamali
https://www.sciencedirect.com/science/article/pii/S0009898122013717/pdfft?md5=81b9192cb91d79e3e970cd8b59840873&pid=1-s2.0-S0009898122013717-main.pdf

38. HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
European Journal of Medical Genetics 29 November 2022 Volume 66, Issue 1 (Cover date: January 2023) Article 104673
Maryanne Caruana, Marieke J. Baars, Guillaume Jondeau
https://www.sciencedirect.com/science/article/pii/S1769721222002543/pdfft?md5=500707967922bea10032db6cb018b53b&pid=1-s2.0-S1769721222002543-main.pdf

39. Direct and maternal genetic effects for preinflection point growth traits and humoral immunity in quail
Poultry Science 12 November 2022 Volume 102, Issue 2 (Cover date: February 2023) Article 102340
Hojjat Sarvari-Kalouti, Ali Maghsoudi, Farzad Bagherzadeh-Kasmani
https://www.sciencedirect.com/science/article/pii/S0032579122006344/pdfft?md5=3a96803147e161ae16783aa8c2970a6a&pid=1-s2.0-S0032579122006344-main.pdf

40. Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry
Biological Psychiatry 2 September 2022 Volume 93, Issue 1 (Cover date: 1 January 2023) Pages 45-58
Clara A. Moreau, Annabelle Harvey, Sebastien Jacquemont
https://www.sciencedirect.com/science/article/pii/S0006322322015529/pdfft?md5=24441b8fad1c296f46dd4671edc8faf2&pid=1-s2.0-S0006322322015529-main.pdf

41. Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients
Gene 2 December 2022 Volume 853 (Cover date: 15 February 2023) Article 147087
Bingyu Jin, Jing Li, Ming Yan
https://www.sciencedirect.com/science/article/pii/S0378111922009076/pdfft?md5=9b6792db34a6582c5258d9d1c8d49575&pid=1-s2.0-S0378111922009076-main.pdf

42. High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification
Human Genetics and Genomics Advances 20 October 2022 Volume 4, Issue 1 (Cover date: 12 January 2023) Article 100156
Scott Mastromatteo, Angela Chen, Lisa J. Strug
https://www.sciencedirect.com/science/article/pii/S2666247722000732/pdfft?md5=3bbdda99a4079518181654f9f718bed6&pid=1-s2.0-S2666247722000732-main.pdf

43. Comparative analysis unravels genetic recombination events of Vibrio parahaemolyticus recA gene
Infection, Genetics and Evolution 19 December 2022 Volume 107 (Cover date: January 2023) Article 105396
C. W. R. Gunasekara, L. G. T. G. Rajapaksha, S. H. M. P. Wimalasena
https://www.sciencedirect.com/science/article/pii/S1567134822001939/pdfft?md5=7f374ebdb853cba21c773c6902f5804a&pid=1-s2.0-S1567134822001939-main.pdf

44. Genetic diversity, population structure, linkage disequilibrium and GWAS for resistance to WSSV in Pacific white shrimp (Litopenaeus vannamei) using a 50K SNP chip
Aquaculture 16 September 2022 Volume 562 (Cover date: 15 January 2023) Article 738835
Thania Medrano-Mendoza, Baltasar F. García, Gabriel R. Campos-Montes
https://www.sciencedirect.com/science/article/pii/S0044848622009528/pdfft?md5=8636a3d12b000aafe94b1cabeecf8f78&pid=1-s2.0-S0044848622009528-main.pdf

45. Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum
Pediatric Neurology 11 November 2022 Volume 139 (Cover date: February 2023) Pages 7-12
Ayca Kocaaga, Sevgi Yimenicioglu
https://www.sciencedirect.com/science/article/pii/S0887899422002375/pdfft?md5=c88c20e9d5a31cc4c682f17e76ba7274&pid=1-s2.0-S0887899422002375-main.pdf

46. Genetic risk score is associated with T2DM and diabetes complications risks
Gene 26 September 2022 Volume 849 (Cover date: 15 January 2023) Article 146921
Jaroslav A. Hubacek, Lucie Dlouha, Terezie Pelikanova
https://www.sciencedirect.com/science/article/pii/S0378111922007417/pdfft?md5=a370a080bef08bd7d538f0c7c9bb7936&pid=1-s2.0-S0378111922007417-main.pdf

47. Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS)
Gene 27 October 2022 Volume 851 (Cover date: 30 January 2023) Article 146956
José M. Lázaro-Guevara, Bryan-Josué Flores-Robles, Stéphanie C. Thébault
https://www.sciencedirect.com/science/article/pii/S0378111922007764/pdfft?md5=40b55aa815b02457db3233d338c24204&pid=1-s2.0-S0378111922007764-main.pdf

48. ECG-based techniques to enhance clinical practice in cardiac genetic disease management
Journal of Electrocardiology 14 November 2022 Volume 76 (Cover date: January–February 2023) Pages 55-60
Machteld Boonstra, Manon Kloosterman, Peter Loh
https://www.sciencedirect.com/science/article/pii/S002207362200214X/pdfft?md5=5ff80e3b55c9961db56041d7db27515b&pid=1-s2.0-S002207362200214X-main.pdf

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