Identification of a rare D13S317-5 allele in an ethnic Han Chinese from Hainan / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To report on a rare D13S317-off-ladder (OL) allele identified in an ethnic Han Chinese from Hainan.</p><p><b>METHODS</b>The rare allele D13S317-OL was detected with a short tandem repeat (STR)-PCR method and DNA sequencing.</p><p><b>RESULTS</b>The core repeat sequence of the rare allele was found to be [TATC]5.</p><p><b>CONCLUSION</b>The rare D13S317-5 allele also exists among ethnic Hans from Hainan, which may have a significant value for personal identification and paternity testing.</p>

Identification of Biomarkers in Urothelium Carcinoma base on Transcriptome Sequencing / 实用医学杂志

Objective To explore the dignostic value of the candidate molecular markers in Urothelium carcinoma based on Illumina Transcriptome Sequencing. Methods Candidate genes which were screened with transcriptome sequencing were validated by using real-time fluorescent quantitative PCR in 31 pairs of tumor and normal tissues of Urothelium carcinoma patients from Affliated Hai kou Hospital Xiangya School of Medicine Central South University. Results The four candidate genes (CDH1,VEGFA,PTPRF and CLDN7) in tumor tissues were up-regulated compared with normal groups in samples of sequencing. The relative expression of VEGFA mRNA were higher than that in normal tissues. There were significant difference in two groups (P 0.05). PTPRF was closely related with the recurrence of tumor (P=0.002), and the predict sensitivity and speciality rate were 90.0%and 83.3%respectively. Conclusions CDH1 and VEGFA play important roles in the occurrence and development of bladder urothelial carcinoma, and they may be the possible biomarkers. PTPRF is expected to be a molecular reference recurrent predictor of bladder tumor.

Analysis of the expression in platelets membrane glycoprotein of the MYH9-RD family by flowcytometry / 中华检验医学杂志

Objective To explore the pathogenic mechanism by detecting the expression of membrane glycoprotein in the platelets of nonmuscle myosin heavy chain 9 related disease (MYH9-RD)patients.Methods Periperal bloods were obtained from 11 MYH9-RD patients and 7 normal family members.Flow cytometry was used for detecting the expression of the platelet membrane glycoprotein including GP Ⅱ b/Ⅲa(CD41/61),GP Ⅰ a(CD49b),GP Ⅰ b/Ⅸ/Ⅴ (CD42a) GP Ⅰ b(CD42b) and GPⅣCD36).Results The expression fluorescence intensity of platelet membrane glycoprotein GP Ⅱ b/Ⅲ a CD41/61),GPⅠa(CD49b),GP Ⅰ b/Ⅸ/Ⅴ (CD42a) GP Ⅰ b(CD42b) and GPⅣ (CD36) are 653.7 ±192.7,420.0 ± 151.3,667.7 ± 371.3 and 236.4 ± 64.2 respectively,which are significantly higher than those in normal controls (406.7 ± 126.1,181.2 ± 29.3,271.4 ± 91.6 and 136.1 ± 23.5 ; P ＜ 0.01) ; The expression of GP Ⅰ a(CD49b) was lower in patients with MYH9-RD (139.1 ± 54.9) than that in normal controls (192.2 ± 143.4),but there was no significant difference (P ＞ 0.05).Conclusion In our study,the diverse clinical manifestations in patients with MYH9-RD is probably associated with the expression level of platelet membrane glycoprotein