Deafness is a seriously disabling disease affecting the quality of human life and genetic fac-tors account for a large proportion in the pathogenesis of newborn deafness.With the development of genomics technology,molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. Molecular diagnostic technique plays an important role in exploring the pathogenesis,assisting clinical diagnosis and the prenatal diagnosis.In this review,we introduce the common pathogenic gene mutations and the diagnosis of non-syndromic inherited hearing impairment.

Glucose-6-phosphatedehydrogenase( G6PD) is the main regulatory enzyme of pentose-phos-phate pathway,which plays an important role in maintaining the balance of cell energy and redox reactions in the cell. G6PD deficiency is the most common hereditary erythrocyte enzyme deficiency disease. There are no effective treatments for the disease. Currently,the key of control and treatment is to make a definitive diagnosis in time and keep away from related risk factors of the disease. At present,the main clinical diagnostic method is the detection of G6PD enzyme activity,but it is limited in accuracy of detecting the heterozygote females. It has already been confirmed at home and abroad that G6PD heterozygote is a risk factor of neonatal hyperbilirubi-nemia. Thus,the detection method of different genotypes of G6PD deficiency at the same time is urgently needed in clinical diagnosis. This paper reviews on recent research progress of the G6PD deficiency disease.

Objective To investigate the the expression of soluble Fas (sFas) in the placenta of pregnancy induced hypertension (PIH) patients after perinatal. Methods Expression of sFas were detected by Fluorescent MGB Probe Real-Time PCR in 34 severe PIH patients and 30 healthy pregnant women served as normal controls.Results Expression of placenta sFas in 34 patients were significantly higher than those in normal controls.Conclusion PIH patients' placenta had higher expressiom of sFas; Detection of sFas may be helpful to value PIH degrade and sFas would be become a indicative markers of cell proliferation and apoptosis during the perinatal period.

AIM: To investigate the change and the possible role of mitogen-activated protein kinase(MAPK) subfamilies in early recovery process following acute renal ischemia/reperfusion injury. METHODS: Ischemia/reperfusion renal injury model was made by placing an atraumatic vascular clamp in renal pedicel. The morphologic change was observed by transmission electron microscope. The proliferating cell nuclear antigen(PCNA) positive renal cells were detected by immunohistochemistry. Extracellular signal-regulated kinase (ERK) and c-Jun NH 2-terminal kinase(JNK) activity was assayed by specific substrate phosphorylation with immunoprecipitation. RESULTS: After acute ischemia, microvilli in renal tubular cells appeared again after 2h of reperfusion. At the same time, the PCNA-positive cells were initially increased. ERK activity decreased at 45 min of ischemia, and completely recovered at 5 min of reperfusion. JNK activity was not influenced by ischemia, but increased at 5 min of reperfusion, reaching its maximal activity at 20 min of reperfusion, and prolonged within 2h reperfusion. CONCLUSION: After renal ischemia/reperfusion injury, the early recovery of renal tubule damage was related to the changes of MAPKs in which the increase of JNK activity might be more important.

Mitogen-activated protein kinases (MAPKs), including extracellular signal-regulated kinases (ERKs), c-Jun NH2-terminal kinases (JNKs) and p38 MAPK, play an important role in transducting environmental stimuli to the transcriptional machinery in the nucleus in mammalian cells by virtue of their ability to phosphorylate and regulate the activity of various transcription factors. It was recently found that the changes in activity of MAPKs occurred during ischemia/reperfusion, but the biological significance of the changes was still controversial.

Along with the quickly popularization of Internet, the literature resource sharing mode in library has been changed. The paper introduces the current development of it, including interlibrary loan, document delivery, IC card service, proposes shortcomings and ideas for the further development of literature resource sharing.

Mitogen - activated protein kinases (MAPKs), including extracellular signal - regulated kinases (ERKs), c - Jun NH2 - terminal kinases (JNKs) and p38 MAPK, play an important role in transducting environmental stimuli to the transcriptional machinery in the nucleus in mammalian cells by virtue of their ability to phosphorylate and regulate the activity of various transcription factors. It was recently found that the changes in activity of MAPKs occurred during ischemia/reperfusion, but the biological significance of the changes was still controversial.

Objective To evaluate the energy metabolism of normal muscle in different age group.Methods Noninvasive 31P-MRS was acquired from quadriceps muscles in healthy people including 10 adults and 6 juvenile.Peak areas were standardized for longitudinal saturation and coil inhomogeneity.The concentration of phosphomonoesterase(PME),inorganic phosphate(Pi),phosphodiesterase(PDE),phosphocreatine(CrP)and adenosine triphosphate(ATP)was determined from spectra.Concentrations of adenosine diphosphate(ADP)and phosphorylation potential(PP)were calculated from the biochemistry reaction equilibrium.Enzymatically active magnesium ATP complex Mg-ATP and pH value were determined from relative chemical shift.Results Normal muscle had prominent high energy phosphate peaks,the mean concentration of CP and ATP was 24.76 and 18.38 mmol/kg in adults,25.52 and 21.36 mmol/kg in young subject.In comparison with adult group,young subjects had lower PDE and higher ATP values.pH value,magnesium ATP and total magnesium were higher in young subjects too.Pi,CP,ADP,PP,free Mg2+ and free ATP concentration were similar in both group.Conclusion High energy compounds were slightly higher in juvenile subjects.31P-MRS is a noninvasive technique to evaluate energy metabolism in different age group.

Objective To retrospectively analyze the result of hemoglobin(Hb)test by using full-automatic Hb electrophoresis and evaluate the its significance in hemoglobinopathy.Methods The data of patients who underwent Hb electrophoresis test and regular blood tests in the hospital from January 2011 to December 2013 were included in the study.The test results were recorded including mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)and results of Hb electrophoresis test.Final diag-nosis were made for suspected patients by using genetic testing,then disease detection rates and gene coincidence rates and constitu-ent ratios were calculated.Results 12 898 cases were included in the study,after statistical analysis the MCV was(85.32±13.61) fL,MCH was(29.87±6.44)pg.By using automatic hemoglobin electrophoresis,1 315 cases were found to be positive,in which 568 were male,747 were female,the detection rate was 10.19%.In the 1 315 patients,there were 761 cases suspectedα-thalassemia,ac-counted for 5.90%.There were 495 cases of suspectedβ-thalassemia,accounted for 3.84%,11 patients with HbJ(0.08%),15 pa-tients with HbK(0.12%),9 patients with HbG(0.07%),3 patients with HbD(0.02%),21 patients with HbE(0.16%).The sus-pected case′s final diagnosis were made by using genetic testing,α-thalassemia gene′s coincidence rate was 80.55%,β-thalassemia gene′s coincidence rate was 96.77%.Conclusion Automatic hemoglobin electrophoresis detection is of great significance for the di-agnosis of hemoglobinopathy.

AIM: To investigate the changes of myocardium glycogen content and the relation ship between changes of the myocardial glycogen content and the myocardial function. METHODS: Male Wistar rats were placed in (hypoxia rats) and made to swim in (hypoxia swimming rats) a hypobaxic chamber simulating an altitude of 5 000 m above sea level. The content of myocardium glycogens was determined by colorimetry. RESULTS: The myocardium glycogen content of rats significantly reduced along with the prolongation of hypoxic exposure and approached to control level in hypoxia swimming rats. The myocardial function of right ventricule was improved significantly compared with control group. CONCLUSION: Moderate exercise (Swimming) is beneficial to hypoxic adaptation of rats under the condition of chronic hypoxia.