Association of p53 codon 72 polymorphism with liver metastases of colorectal cancers positive for p53 overexpression / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

<p><b>OBJECTIVE</b>To evaluate the association between p53 codon 72 polymorphism (R72P) and the risk of colorectal liver metastases.</p><p><b>METHODS</b>The p53 R72P genotype was identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 78 consecutive colorectal cancer patients with liver metastases and 214 age- and sex-matched cases with nonmetastatic colorectal cancer.</p><p><b>RESULTS</b>The R allele of the p53 R72P polymorphism was more frequently found in metastatic cases than in nonmetastatic cases (P=0.075). Carriers of the 72R allele had a 2.25-fold (95% CI (confidence interval)=1.05 to approximately 4.83) increased risk of liver metastases. On the stratification analysis, 72R-carrying genotype conferred a 3.46-fold (95% CI=1.02 to approximately 11.72) and a 1.05-fold (95% CI=0.36 to approximately 3.08) increased risk of liver metastases for p53 overexpression-positive and negative colorectal cancers, respectively.</p><p><b>CONCLUSION</b>These results demonstrate for the first time that the 72R allele of the p53 polymorphism has an increased risk for liver metastases in colorectal cancers positive for p53 overexpression.</p>

The relationship between alpha-IFN anti-virus treatment and HLA-DRB1*11 gene mononucleotide polymorphism / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the distribution of mononucleotide polymorphism of five regulation regions of alpha-IFN among HLA-DRB1*11 gene episodes and the therapeutic effects of alpha-IFN treatment in chronic hepatitis B patients.</p><p><b>METHODS</b>One hundred seven chronic hepatitis patients from Nanjing Second Hospital who were treated by alpha-IFN for 12 months and then followed at least six months without the treatment were randomly selected for this regressive analysis. They were grouped into a continuous responsive group and a non-continuous responsive group. Hepatitis B virus X interacting protein gene locus was searched in NCBI. Single nucleotide polymorphism (SNP) gene locus was detected based on a pooling sequencing method. Primer and TaqMan-MGB probes referring to different mononucleotide loci were designed respectively to detect SNP in five regulation regions of alpha-IFN. Then gene sequencing differences between the two groups were analyzed.</p><p><b>RESULTS</b>Among the 107 cases there were 30 cases (28.0%) in the continuous responsive group and 77 cases (71.9%) in the non-continuous responsive group. CT occupation rate in five regulation regions of IFN reached 18.0% in the continuous responsive group and 23.8% in the non-continuous responsive group. AG occupation rate reached 10.8% in the former group and 15.8% in the latter group. The differences in CT and AG between the two groups were significant.</p><p><b>CONCLUSIONS</b>The distribution of mononucleotide polymorphism of five regulation regions of alpha-IFN among HLA-DRB1*11 gene episodes affects the IFN anti-virus treatment. Detecting the gene distribution of mononucleotide in five regulation regions of alpha-IFN helps in predicting the therapeutic effects of alpha-IFN.</p>

The glutamate-cysteine ligase catalytic subunit gene C-129T and modifier subunit gene G-23T polymorphisms and risk for coronary diseases / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the possible association between the glutamate-cysteine ligase catalytic subunit gene (GCLC) C-129T and modifier subunit gene (GCLM) G-23T polymorphisms with coronary heart disease (CHD) in Chinese population.</p><p><b>METHODS</b>GCLC C-129T and GCLM G-23T genotypes were determined in 212 CHD patients and 218 healthy individuals using a PCR-based restriction fragment length polymorphism (RFLP) method. Odds ratio (OR) for CHD and 95% confidence interval (CI) from unconditional logistic regression models were used to evaluate relative risks.</p><p><b>RESULTS</b>The T allele of the GCLC C-129T polymorphism was more frequently found in CHD cases than in controls (P < 0.01) and individuals with GCLC-129T allele had a significantly higher risk for CHD (OR = 2.38, 95% CI: 1.25 - 4.54) as compared to individuals with the -129C allele. When compared with CC homozygote, CT heterozygote had a 2.14-fold higher risk for CHD (95% CI: 1.08 - 4.24, P < 0.05) and carriers of the-129T allele (CT or TT genotype) also had a similarly 2.28-fold higher risk for CHD (95% CI: 1.16 - 4.49, P < 0.05). In contrast, the frequency of T allele of the GCLM G-23T polymorphism was lower in CHD patients than that of controls (0.174 vs. 0.264) and individuals with the GCLM-23T allele had a significantly lower risk for CHD (OR = 0.59, 95% CI: 0.42 - 0.82, P < 0.01) as compared to the -23G allele. When compared with GG homozygote, the OR of CHD for GT heterozygote was 0.71 (95% CI: 0.47 - 1.08, P > 0.05), for TT homozygote was 0.18 (95% CI: 0.06 - 0.55, P < 0.01), and for carriers of the -23T allele (GT or TT genotype) was 0.61 (95% CI: 0.42 - 0.92, P < 0.05).</p><p><b>CONCLUSION</b>The GCLC C-129T polymorphism may be one of the genetic risk factor while the GCLM G-23T polymorphism may be one of the genetic protective factors for CHD in this Chinese population.</p>

Mutational analysis of EGFR and K-RAS in Chinese patients with non-small cell lung cancer / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate gene mutations of the epidermal growth factor receptor (EGFR) and K-RAS in Chinese non-small cell lung cancers (NSCLCs).</p><p><b>METHODS</b>Mutations of exons 18, 19 and 21 of the EGFR and codons 12, 13 of the K-RAS in 101 NSCLCs were detected by PCR-amplifying and gene sequencing, and the relationship between mutations and clinical characters of NSCLCs and response to gefitinib were analyzed.</p><p><b>RESULTS</b>Overall, 26 EGFR mutations (25.7%), 3 K-RAS mutations (2.9%) were detected, and EGFR mutation frequencies in adenocarcinomas, nonsmoker and female were found to be high (44.2%, 65.7% and 48.3% respectively). Nine out of 10 gefitinib treated patients with disease control was found with EGFR mutation.</p><p><b>CONCLUSION</b>The data suggest that mutation frequency of EGFR in NSCLCs from Chinese patients is higher than that of western ethnicities, such mutations are well correlated with tumor response to gefitinib, and gefitinib is more fit for Chinese NSCLC patients.</p>

Association of p53 codon 72 polymorphism with genetic susceptibility to hepatocellular carcinoma in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>A functional single nucleotide polymorphism (SNP) at codon 72 of the gene for p53 protein (p53 R72P) has been implicated in a variety of human cancers, but the relationship between this SNP and hepatocellular carcinoma (HCC) remains obscure despite the fact that the critical role of p53 protein in HCC has been documented. This study was conducted to evaluate the link between the polymorphism with HCC stratified by chronic hepatitis B infection status in a Chinese population.</p><p><b>METHODS</b>Four hundred and sixty-nine HCC cases (359 HbsAg-positive, 110 HbsAg-negative) and 567 controls (137 HbsAg-positive, 430 HbsAg-negative) were studied. The p53 genotypes were determined by a PCR based restriction fragment length polymorphism (RFLP) method.</p><p><b>RESULTS</b>Overall, no correlation between HCC and the R72P genotypes was found when comparing all cases to controls or when comparing the HbsAg-positive HCC subgroup to controls. However, in HbsAg-negative subjects, the 72P allele was significantly associated with the presence of HCC (P=0.01) and had a higher risk (OR=1.69, 95% CI: 1.25-2.27) of HCC as compared to the 72R allele. By comparison to R/R homozygotes, the R/P heterozygotes and P/P homozygotes had a 1.73-fold (95% CI: 0.96-3.11) and a 3.29-fold (95% CI: 1.58-6.86) increased risk for HCC, respectively. The subjects with the 72P allele and a family history of HCC and those with the 72P allele and male gender also yielded an 11.14-fold (95% CI: 1.62-76.67) and a 9.39 fold (95% CI: 3.08-28.62) increased risk of HCC, respectively.</p><p><b>CONCLUSION</b>The P allele of the p53 R72P polymorphism has an increased risk for HCC in HbsAg-negative subjects, and exerts a synergistic influence on the risk for HCC when combined with HCC family history and the male gender.</p>

Coding single nucleotide polymorphism is an ideal marker for detecting gene imprinting by 5' nuclease assay / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish a novel approach for quick and high throughput verification of human gene imprinting.</p><p><b>METHODS</b>By use of a pair of dye-labeled probes, 5' nuclease assay was combined with reverse transcriptase-PCR(RT-PCR) to genotype a coding single nucleotide polymorphism (cSNP), rs705(C/T) of a known imprinted gene, small nuclear ribonucleotide protein N (SNRPN), on both genomic DNA and cDNA of human lymphoblast cell lines.</p><p><b>RESULTS</b>Allele discrimination showed a clear monoallelic expression pattern of SNRPN, which was confirmed by RT-PCR based restriction fragment length polymorphisms. Pedigree analysis verified the paternal origin of expressed allele, which is in consistency with previous report.</p><p><b>CONCLUSION</b>Coding SNP is an ideal marker for detecting gene imprinting by 5' nuclease assay. This approach has also a potentiality to discover differential allele expression of non-imprinted genes in order to find gene cis-acting functional polymorphism.</p>

Delineation of chromosome translocations by fluorescence in situ hybridization / 第二军医大学学报

Objective:To delineate the G-banding-sug gested chromosome translocations by fluorescence in situ hybridization (FISH ) technique. Methods: Locus-specific probes, generated by degen erate oligonucleotide-primed PCR (DOP-PCR) technique from yeast artificial chr omosomes (YACs) mapping the regions in question, were used for FISH tests. Results: Among the 2 cases unresolved by G-banding, FISH confirm ed that one had a balanced translocation between chromosome 11 and chromosome 13 , the other had an unbalanced translocation between chromosome 6 and chromosome X.Conclusion: Because of its high sensitivity and specificity, FISH technique is a powerful adjunct to chromosome banding techniques, particula rly for the delineation of subtle chromosome rearrangement(s) and the origin of segment(s).

Delineation of chromosome translocations by fluorescence in situ hybridization / 第二军医大学学报

Objective:To delineate the G-banding-sug gested chromosome translocations by fluorescence in situ hybridization (FISH ) technique. Methods: Locus-specific probes, generated by degen erate oligonucleotide-primed PCR (DOP-PCR) technique from yeast artificial chr omosomes (YACs) mapping the regions in question, were used for FISH tests. Results: Among the 2 cases unresolved by G-banding, FISH confirm ed that one had a balanced translocation between chromosome 11 and chromosome 13 , the other had an unbalanced translocation between chromosome 6 and chromosome X.Conclusion: Because of its high sensitivity and specificity, FISH technique is a powerful adjunct to chromosome banding techniques, particula rly for the delineation of subtle chromosome rearrangement(s) and the origin of segment(s).