SRY gene-testing in the diagnosis of disorders of sex development among children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.</p><p><b>METHODS</b>The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.</p><p><b>RESULTS</b>Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients: 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.</p><p><b>CONCLUSIONS</b>SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.</p>

Study on the intercellular molecule-1 polymorphisms in an Chinese population with myocardial infarction / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the association between intercellular adhesion molecule-1 (ICAM-1) gene + 12959G/A and + 13848A/G polymorphism and myocardial infarction (MI).</p><p><b>METHODS</b>Polymerase chain reaction-sequence specific primers (PCR-SSP) technology and PCR-restriction fragment length polymorphism(PCR-RFLP) were used for the detection of ICAM-1 genotypes in 165 patients with MI(including acute MI and old MI) and 199 healthy controls. Plasma lipid levels and hyper sensitive C reactive protein (quantitive ELISA method was used) levels were measured in all subjects.</p><p><b>RESULTS</b>+ 12959G/A polymorphism was not detected in our study. The frequencies of AA,AG and GG Genotypes of + 13848A/G were 58.2% and 45.7%, 37.0% among patients and 45.2%, 4.8% and 9.0% among controls,respectively. There were statistically significant differences in the distributions of the genotype frequencies (P<0.05) between two groups, and the relative risk suffered from MI of AA genotype was 1.651 times of the GG and GA genotype (OR = 1.651, 95% CI: 1.089-2.504).</p><p><b>CONCLUSION</b>There was no + 12959G/A polymorphism found in Chinese people. The coding single nucleotide polymorphism + 13848 A/G in the exon 6 of ICAM-1 gene was associated to MI and the allele A might serve as a risk factor for MI in Chinese.</p>