RESUMEN
OBJECTIVE: 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. METHODS: 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. RESULTS: 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+. CONCLUSIONS: 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.
Asunto(s)
Trastornos del Desarrollo Sexual/diagnóstico , Proteína de la Región Y Determinante del Sexo/genética , Adolescente , Niño , Preescolar , Bandeo Cromosómico , Trastornos del Desarrollo Sexual/genética , Humanos , Lactante , Recién Nacido , CariotipoRESUMEN
OBJECTIVE: To investigate the association between intercellular adhesion molecule-1 (ICAM-1) gene + 12959G/A and + 13848A/G polymorphism and myocardial infarction (MI). METHODS: 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. RESULTS: + 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). CONCLUSION: 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.
Asunto(s)
Pueblo Asiatico/genética , Molécula 1 de Adhesión Intercelular/genética , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Estudios de Casos y Controles , China , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la PolimerasaRESUMEN
Tumor necrosis factor-alpha(TNF-alpha) is a cytokine that has multiple functions. It could be involved in cardiovascular pathophysiology. Given this possibility, we measured serum TNF-alpha level by ELISA and use PCR-RFLP methods to examine the distribution of TNF-alpha locus gene polymorphism at -857 and -863 sites in coronary heart disease(CHD) patients and matched controls. We found the serum level of TNF-alpha of CHD is higher than that of controls(P<0.05),-863 genotype and allele have significant difference between two groups(P<0.05),and there are no difference in two groups at -857 site.