目的：探讨荧光定量RT—PCR法测定外周血肺组织特异性基因（1ung-specific X protein gene，LUNX）mRNA表达对肺癌的诊断价值。方法：荧光定量RT—PCR法检测67例肺癌患者（其中30例手术患者测定术前和术后外周血）、40例良性肺疾病患者...目的：探讨荧光定量RT—PCR法测定外周血肺组织特异性基因（1ung-specific X protein gene，LUNX）mRNA表达对肺癌的诊断价值。方法：荧光定量RT—PCR法检测67例肺癌患者（其中30例手术患者测定术前和术后外周血）、40例良性肺疾病患者、20名健康体检者外周血LUNX mRNA表达，67例肺癌患者同时用放免法测定外周血中CEA、CA125、Cyfra21—1。结果：肺癌患者外周血LUNXmRNA表达阳性率（56．7％）均高于CEA、CA125、Cyfra21—1单项或三者联合检测（分别为16．4％、26．9％、11．9％和32．8％）（P〈0．05～P〈0．005）。荧光定量RT—PCR法测外周血LUNXmRNA表达诊断肺癌的敏感性为56．7％，特异性100％，阳性预测值为100％，阴性预测值为67．4％。结论：荧光定量RT—PCR法测定外周血LUNX mRNA可能成为肺癌基因诊断一项较好的指标。展开更多
Human surfactant protein C (hSP-C1-197) is synthesized as a 197 amino acid p roprotein and cleaved to a mature 3.7 kD form. Although interstitial lung disea se in patients with mutations of the hSP-C gene is becoming ...Human surfactant protein C (hSP-C1-197) is synthesized as a 197 amino acid p roprotein and cleaved to a mature 3.7 kD form. Although interstitial lung disea se in patients with mutations of the hSP-C gene is becoming increasingly recogn ized, the mechanisms linking molecular events with clinical pathogenesis are not fully defined. We describe a full-term infant with respiratory insufficiency a ssociated with a spontaneous heterozygous mutation resulting in a substitution o f lysine for glutamic acid at position 66 (= E66K) of the proximal hSP-C COOH f lanking propeptide. Lung histology and biochemical studies of the index patient (hSP-CE66K) revealed nonspecific interstitial pneumonia, increased alveolar tot al phospholipid lacking phosphatidylglycerol, and increased surfactant protein A . Localization of proSP-C from lung sections prepared from this patient using i mmunofluorescence and immunogold electron microscopy revealed abnormal proSP-C staining in endosomal-like vesicles of type II cells distinct from SP-B. To evaluate the effect of the E66K substitution on intracellular trafficking o f proSP-C, fusion proteins consisting of enhanced green fluorescent protein (EG FP) and hSP-C 1-197 (wild type)-or mutant hSP-CE66K were generated and trans fected into A549 cells. EGFP/hSP-C1-197 was expressed within CD-63-positive, EEA-1-negative vesicles, whereas EGFP/hSP-CE66K localized to EEA-1 positive vesicles. The E66K substitution is representative of a newclass of SP-Cmutatio n associated with interstitial lung disease that is diverted from the normal bio synthetic pathway. We propose that, similar to other storage disorders, lung inj ury results from induction of a toxic gain of function induced by the mutant pro duct that is subject to genetic modifiers and environmental influences.展开更多
文摘目的：探讨荧光定量RT—PCR法测定外周血肺组织特异性基因（1ung-specific X protein gene，LUNX）mRNA表达对肺癌的诊断价值。方法：荧光定量RT—PCR法检测67例肺癌患者（其中30例手术患者测定术前和术后外周血）、40例良性肺疾病患者、20名健康体检者外周血LUNX mRNA表达，67例肺癌患者同时用放免法测定外周血中CEA、CA125、Cyfra21—1。结果：肺癌患者外周血LUNXmRNA表达阳性率（56．7％）均高于CEA、CA125、Cyfra21—1单项或三者联合检测（分别为16．4％、26．9％、11．9％和32．8％）（P〈0．05～P〈0．005）。荧光定量RT—PCR法测外周血LUNXmRNA表达诊断肺癌的敏感性为56．7％，特异性100％，阳性预测值为100％，阴性预测值为67．4％。结论：荧光定量RT—PCR法测定外周血LUNX mRNA可能成为肺癌基因诊断一项较好的指标。
文摘Human surfactant protein C (hSP-C1-197) is synthesized as a 197 amino acid p roprotein and cleaved to a mature 3.7 kD form. Although interstitial lung disea se in patients with mutations of the hSP-C gene is becoming increasingly recogn ized, the mechanisms linking molecular events with clinical pathogenesis are not fully defined. We describe a full-term infant with respiratory insufficiency a ssociated with a spontaneous heterozygous mutation resulting in a substitution o f lysine for glutamic acid at position 66 (= E66K) of the proximal hSP-C COOH f lanking propeptide. Lung histology and biochemical studies of the index patient (hSP-CE66K) revealed nonspecific interstitial pneumonia, increased alveolar tot al phospholipid lacking phosphatidylglycerol, and increased surfactant protein A . Localization of proSP-C from lung sections prepared from this patient using i mmunofluorescence and immunogold electron microscopy revealed abnormal proSP-C staining in endosomal-like vesicles of type II cells distinct from SP-B. To evaluate the effect of the E66K substitution on intracellular trafficking o f proSP-C, fusion proteins consisting of enhanced green fluorescent protein (EG FP) and hSP-C 1-197 (wild type)-or mutant hSP-CE66K were generated and trans fected into A549 cells. EGFP/hSP-C1-197 was expressed within CD-63-positive, EEA-1-negative vesicles, whereas EGFP/hSP-CE66K localized to EEA-1 positive vesicles. The E66K substitution is representative of a newclass of SP-Cmutatio n associated with interstitial lung disease that is diverted from the normal bio synthetic pathway. We propose that, similar to other storage disorders, lung inj ury results from induction of a toxic gain of function induced by the mutant pro duct that is subject to genetic modifiers and environmental influences.
