1.The relationship between the expression of P16 and the prognosis of oesophagus cancer
Xiaohu LIN ; Xingyue LIN ; Liyu JIANG ; Yuancun CHEN ; Yu ZHOU
Chinese Journal of Primary Medicine and Pharmacy 2008;15(12):1939-1940
Objective Previons studies showed that,the gene of P16 is a kind of gene suppressing the cancer.its function once lose,the cell may change to cancer.Methods The expression of P16 has a closely relation with the malignant latent and evolve of the oesophagus cancer.ResulIs This research explored the relation between the P16 expression and the prognosis of oesophagus cancer,the results showed the positive rate of the expression of P16 is more low the rate ofexistence is more low,it in dicates the expression rate of P16 can reflect the prognosis of oesophagus cancer cell.Conclusion The expression of P16 missing or descending is closely rehted with the aggravate and evolve of oesophagus cancer,therefore the expression of P16 had a relation with the prognosis of oesophagus cancer.
2.Gene mutation analysis of glucose-6-phosphate dehydrogenase deficiency among infants in Kunming
Guoqi CHEN ; Baosheng ZHU ; Jing HE ; Yuancun ZHAO ; Ying CHAN ; Junyue LIN ; Xiaoyan ZHOU ; Hong CHEN ; Yinhong ZHANG
Chinese Journal of Laboratory Medicine 2024;47(3):293-300
Objective:To analyze the genetic mutation characteristics of glucose-6-phosphate dehydrogenase (G6PD) deficiency among infants in Kunming.Methods:A total of 15 533 infants (7 994 males and 7 539 females) born in Kunming from January 1, 2018, to December 31, 2020, with an age range of 2 to 44 days, were selected. G6PD enzyme activity and gene mutation types were detected using fluorescence quantitative analysis, multicolor melting curve analysis (MMCA), and Sanger sequencing. Droplet digital PCR (ddPCR) was used for quantitative analysis of a newly identified variant family to determine the mutant allele proportion in family members. Meanwhile,the protein structure model and pathogenicity prediction of the novel variant were analyzed.Data analysis was conducted using SPSS 26.0. Specifically, chi-square tests were used for the detection rates of G6PD enzyme activity and gene mutations between different genders. One-way analysis of variance (ANOVA) was used for the comparison of enzyme activity among different mutation types.Results:Among 15 533 infants, 143 cases (129 males and 14 females) were tested positive for G6PD activity, with a detection rate of 0.92% (143/15 533). The difference in detection rates between males and females was statistically significant (χ 2=96.76, P<0.001). Out of 89 enzyme activity-positive cases (83 males and 6 females) underwent genetic testing, 77 (72 males and 5 females) were detected by MMCAand other 12 negative samples were underwent further Sanger sequencing, revealing mutations in 6 samples, all of which were males. Among the 83 individuals with gene mutations, 78 had heterozygous mutations, 1 had a homozygous mutation, and 4 had compound heterozygous mutations. A total of 12 mutation types were detected, with G6PD c.487G>A, c.1024C>T, c.1388G>A, and c.1376G>T being the most common, accounting for 74.70% (62/83) of all mutation types. The average G6PD enzyme activity of c.1376G>T was the lowest, and the differences were statistically significant compared to the average enzyme activity of the other three mutations ( P<0.05). One male infant with a newly identified G6PD c.242G>C mutation was detected, predicted to be pathogenic. ddPCR confirmed that the mother of the affected child was a c.242G>C mutant chimera, with a chimera proportion of 6.66%. Conclusions:In the Kunming region, the predominant G6PD deficiency gene mutation is c.487G>A, with the detection of a novel G6PD c.242G>C mutation. The application of ddPCR technology can assist in detecting the proportion of mutation chimeras.