AIM： To identify the precise location of putative tumor suppressor genes （TSGs） on the short arm of chromosome 8 in patients with hepatocellular carcinoma （HCC）. METHODS： We used 16 microsatellite markers inform...AIM： To identify the precise location of putative tumor suppressor genes （TSGs） on the short arm of chromosome 8 in patients with hepatocellular carcinoma （HCC）. METHODS： We used 16 microsatellite markers informative in Japanese patients, which were selected from 61 pub- lished markers, on 81：）, to analyze the frequency of loss of heterozygosity （LOH） in each region in 33 cases （56 lesions） of HCC. RESULTS： The frequency of LOH at 8p23.2-21 with at least one marker was 63% （20/32） in the informative cases. More specifically, the frequency of LOH at 8p23.2, 8p23.1, 8p22, and 8p21 was 6%, 52%, 47%, and 13% in HCC cases. The LOH was significantly more frequent at 8p23.1 and 8p22 than the average （52% vs 220, P = 0.0008; and 47% vs 22%, P = 0.004, respectively） or others sites, such as 8p23.2 （52% vs 60, P = 0.003; 47% vs 220, P = 0.004） and 8p21 （52% vs 13%, P = 0.001; 47% vs 13%, P = 0.005） in liver cancer on the basis of cases. Notably, LOH frequency was significantly higher at D85277, DSS503, DSS1130, DSS552, DSS254 and D8S258 than at the other sites. However, no allelic loss was detected at any marker on 8p in the lesions of nontumor liver tissues. CONCLUSION： Deletion of 8p, especially the loss of 8p23.1-22, is an important event in the initiation or promotion of HCC. Our results should be useful in identi- fying critical genes that might lie at 8p23.1-22.展开更多
Objective:To evaluate the performance of optical genomemapping(OGM)in identifying an inversion located in the short armof chromosome 8(8p,8p23.1),flanked by regions of complex segmental duplication(SD),using the GRCh3...Objective:To evaluate the performance of optical genomemapping(OGM)in identifying an inversion located in the short armof chromosome 8(8p,8p23.1),flanked by regions of complex segmental duplication(SD),using the GRCh38 and telomere-to-telomere(T2T)genome references.Methods:We investigated a couple suspected of carrying the 8p23.1 inversion due to a terminal deletion combined with an interstitial duplication of 8p found in their abortus.OGM was performed on both individuals.The data were mapped to the current GRCh38 and the updated T2T genome references,respectively.Results:The 8p23.1 inversion was observed in the female when mapping OGM data to the T2T assembly.In contrast,under the GRCh38 reference,the orientation between the suspected breakpoints within the SD regions could not be distinguished.Additional variants of uncertain significance were also identified in both individuals.Conclusion:Our findings highlight the superiority of the T2T reference in recognizing structural variations involving SD regions.The enhanced SV detection using the T2T reference may contribute to a better understanding of genome instability and human diseases.展开更多
文摘AIM： To identify the precise location of putative tumor suppressor genes （TSGs） on the short arm of chromosome 8 in patients with hepatocellular carcinoma （HCC）. METHODS： We used 16 microsatellite markers informative in Japanese patients, which were selected from 61 pub- lished markers, on 81：）, to analyze the frequency of loss of heterozygosity （LOH） in each region in 33 cases （56 lesions） of HCC. RESULTS： The frequency of LOH at 8p23.2-21 with at least one marker was 63% （20/32） in the informative cases. More specifically, the frequency of LOH at 8p23.2, 8p23.1, 8p22, and 8p21 was 6%, 52%, 47%, and 13% in HCC cases. The LOH was significantly more frequent at 8p23.1 and 8p22 than the average （52% vs 220, P = 0.0008; and 47% vs 22%, P = 0.004, respectively） or others sites, such as 8p23.2 （52% vs 60, P = 0.003; 47% vs 220, P = 0.004） and 8p21 （52% vs 13%, P = 0.001; 47% vs 13%, P = 0.005） in liver cancer on the basis of cases. Notably, LOH frequency was significantly higher at D85277, DSS503, DSS1130, DSS552, DSS254 and D8S258 than at the other sites. However, no allelic loss was detected at any marker on 8p in the lesions of nontumor liver tissues. CONCLUSION： Deletion of 8p, especially the loss of 8p23.1-22, is an important event in the initiation or promotion of HCC. Our results should be useful in identi- fying critical genes that might lie at 8p23.1-22.
基金supported by funding for Clinical Trials from the Affiliated Drum Tower Hospital,Medical School of Nanjing University(2022-LCYJ-MS-06).
文摘Objective:To evaluate the performance of optical genomemapping(OGM)in identifying an inversion located in the short armof chromosome 8(8p,8p23.1),flanked by regions of complex segmental duplication(SD),using the GRCh38 and telomere-to-telomere(T2T)genome references.Methods:We investigated a couple suspected of carrying the 8p23.1 inversion due to a terminal deletion combined with an interstitial duplication of 8p found in their abortus.OGM was performed on both individuals.The data were mapped to the current GRCh38 and the updated T2T genome references,respectively.Results:The 8p23.1 inversion was observed in the female when mapping OGM data to the T2T assembly.In contrast,under the GRCh38 reference,the orientation between the suspected breakpoints within the SD regions could not be distinguished.Additional variants of uncertain significance were also identified in both individuals.Conclusion:Our findings highlight the superiority of the T2T reference in recognizing structural variations involving SD regions.The enhanced SV detection using the T2T reference may contribute to a better understanding of genome instability and human diseases.
