Genes associated with hypospadias: an update / 中华男科学杂志

Hypospadias is one of the most common congenital malformations, and its main clinical manifestation is the abnormal opening of the urethra. Etiologically, it can be attributed to many factors, mainly including genetic, hormonal, and environmental factors. Recently studies about its genetic etiologies have found a variety of hypospadias-associated genes from the aspects of epidemiology and polymorphism, mainly those involving the formation of the penis, the development of the testis, the anabolism of androgens, and so on. This review focuses on the progress in the studies on the genetic etiology of hypospadias.

Association between intraocular pressure and systemic factor / 中华实验眼科杂志

Background Abnormality of intraocular pressure (IOP) leads to ocular shape change and functional damage.Previous study on the influence factors of IOP mostly focus on eye tissue,but the research of systemic affecting factor is lack.Objective This study was to survey the distribution of IOP and its association with the systemic factors in Chinese population.Methods A cross-section study was designed in this study.The subjects were enrolled from the government employees physical check-up cohort in Guangzhou.IOP was measured using non-contact tonometry.The height,weight and blood pressure were measured based on a presupposed standard protocol.Fundus and slit lamp examinations were performed by trained ophthalmologists.Frequency-doubled perimetry was carried out in the subjects with the suspicious optical disc abnormality,and abnormal perimetry result and operated eye were rejected in the survey.The operative history was learned by questionnaire.Stata 11.0 was used for the data analysis.Results Total 7763 subjects finished all the examination,including 4213 male and 3550 female.Four hundred and fifteen subjects were excluded due to previous intraocular surgery and glaucoma,and the clinical data of the right eyes of 7348 subjects who were eligible for the protocol were brought into statistical analysis.The mean IOP was (15.6±2.8) mmHg in the subjects,and that in the male and female subjects was (15.6±2.8) mmHg and (15.7±2.8) mmHg,respectively,showing a statistically significant difference (t =2.415,P =0.016).A good consistence was found in the IOP between the right eyes and the left eyes (r=0.830,P＜0.001).The IOP value in the subjects presented with a near normal distribution.IOP value was gradually decreased with the increase of age.Multivariate regression suggested a negative correlation between IOP and age or gender (P＜0.001) as well as a positive correlation between IOP and body weight index (BMI),systolic blood pressure or diastolic blood pressure (P ＜0.001).Conclusions Similar to other studies in East Asia population,IOP is associated with age,gender,BMI,systolic and diastolic blood pressure in this survey.

Optimization of real time RT-PCR system for the quantitative estimation of CatSper1 mRNA levels in human and mouse mature spermatozoa / 中华男科学杂志

<p><b>OBJECTIVE</b>To establish and optimize a real time RT-PCR system for determining the transcript levels of CatSper1 in human and mouse mature spermatozoa containing microamount of RNA.</p><p><b>METHODS</b>Total RNA of human and mouse mature spermatozoa was isolated by using TRIzol reagent and reversely transcribed to complementary DNA respectively. Primers for real time RT-PCR were designed in the homologous area of the human and mouse CatSper1 mRNAs. Human sperm complementary DNA was used as the template to the optimize the conditions for SYBR Green I real time RT-PCR, including annealing temperature, Mg2+ concentration, fluorescence measurement temperature and the ratio between forward and reverse primers. The standard curve was constructed with serial dilutions of complementary DNA from human sperm to ascertain the amplification efficiency of SYBR Green I real time PCR and to quantitate the CatSper1 mRNA levels in the human and mouse mature spermatozoa.</p><p><b>RESULTS</b>The optimal conditions for real time RT-PCR, that is, annealing temperature, Mg2+ concentration and the ratio between forward and reverse primers were 63 degrees C, 3.0 mmol/L and 1:1 respectively. The fluorescence measurement temperature was 88 degrees C. The standard curves were Y = -3.402 log (X) + 25.99 and Y = -3.409 log(X) + 24.09 in the human sperm cDNA and mouse sperm cDNA as the template, with amplification efficiency of 96.8% and 96.5% respectively. The R2 value (an indicator of the quality of the fit of the standard curve to the standard data points plotted) of both standard curves was 0.998. The CatSper1 mRNA levels in the human and mouse mature spermatozoa could be determined according to the standard curve.</p><p><b>CONCLUSION</b>The general RT-PCR system, by adding SYBR Green I and optimizing its conditions, could be used to quantitate the mRNA levels in both human and mouse mature spermatozoa.</p>