A novel mutation in PAX6 gene causing congenital iris coloboma with congenital cataract in a pedigree / 中华实验眼科杂志

Objective:To identify the pathogenic gene and inheritance pattern in a pedigree of congenital iris coloboma with congenital cataract.Methods:The method of pedigree investigation was adopted.A pedigree of congenital iris coloboma with congenital cataract was collected by Yunnan Disabled Rehabilitation Center and the 2nd Afliated Hospital of Kunming Medical University in February 2020.Ophthalmic examinations were carried out on the female proband, her parents, her children and her husband, and the clinical diagnosis was made.Genomic DNA was extracted from peripheral blood samples collected from the family members.The suspected pathogenic gene in the proband and her husband was screened by whole exome sequencing and was identified by bioinformatics analysis.The amino acid conservation was analyzed by UGENE software.The impact of the mutation on protein translation was predicted using MutationTaster software.The pathogenicity of the mutation was assessed according to the American College of Medical Genetics (ACMG) Standards and Guidelines.Pathogenic gene and mutations were verified by Sanger sequencing.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the 2nd Afliated Hospital of Kunming Medical University (No.PJ-2020-61).Written informed consent was obtained from each subject or custodian.Results:The proband showed large iris defects in both eyes with only a small amount of observable iris tissue in the periphery, lens cortical opacity and posterior capsule opacification, accompanied by nystagmus.A novel heterozygous frameshift variation c. 415dupA (p.R139fs) was located in exon 8 of PAX6 gene, and the variation was conservative across multiple species.The variation was in the highly conserved region of PAX6 gene and caused the dysfunction of PAX6 protein.The variation was graded as PVS1+ PM2+ PP1, a pathogenic variation, based on ACMG guidelines.The pedigree was consistent with co-segregation, indicating that the novel variation was pathogenic.The proband and her children were diagnosed, but her parents were phenotypically normal, in accordance with autosomal dominant inheritance. Conclusions:The novel frameshift variation c.415dupA (p.R139fs) on the exon 8 of PAX6 gene is responsible for congenital iris coloboma with congenital cataract in the pedigree.This is the first report of this novel variation in PAX6 gene.

Teaching practice and effect evaluation in medical genetics based on PAD Class / 中华医学教育探索杂志

Objective This study aimed to explore the practice and effect of PAD Class (presentationassimilation-discussion Class) in the teaching of Medical Genetics.Methods We randomly selected a teaching class (117) for PAD Class and the other class (115) for lecture-style teaching.The two classes took the same exam in the end,with the PAD class taking an extra questionnaire on teaching conditions at the same time.The average scores of the two classes were tested by SPSS 19.0.Results The scores of the final exams for PAD and control classes were (72.21 ± 7.42) and (69.77 ± 8.89),differences were statistically significant (t=2.27,P=0.02).Questionnaire results showed that in PAD Class,68.81％ (75/109) of the students could complete homework,93.58％ (102/109) thought that PAD class had (obviously) increased their initiative and enthusiasm for learning,and 53.21％ (58/109) were very satisfied with their learning results.Conclusion PAD Class is suitable for the teaching of Medical Genetics and improves the teaching efficiency.

Practice and reflection on the application of flipped classroom in Medical genetics / 中华医学教育探索杂志

Flipped classroom as a new teaching mode provides a new idea for the reform of teaching and learning of medical genetics. This paper analyzes the feasibility of flipped classroom applied in medical genetics teaching and puts forward the concrete teaching design and practice process. That is, establishing task list, making teaching materials, drafting progress process and so on before class; implementing group reporting, teacher reviewing and in-class test in class; after class conducting comprehensive evaluating, summarizing and feedback, etc. Meanwhile, combining the practice, the experience and deficiency of flipped classroom is summarized in the end. Preliminary evaluation shows that the flipped classroom teaching im-proves students'!autonomous learning initiative, but it still needs to be improved in the course of medical genetics.

The Correlation of Polymorphisms of AT1R A1166C and AGT M235T Genes and Blood Biochemical Indicators with Essential Hypertension in the Male of Yi Nationality in Yunnan Province / 昆明医科大学学报

Objective To investigate the correlation of the polymorphisms of angiotensin Ⅱtype 1 receptor (AT1R)gene A1166C and angiotensinogen(AGT)gene M235T and blood biochemical indicators with essential hypertension(EH)in the male of Yi nationality in Yunnan province. Methods 92 hypertensive and 70 normotensive of Yi people were recruited in Yunnan province. Their basic information and blood biochemical indicators were obtained by questionnaire and standardized physical examination. The genes polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)technique. Results(1)For the male EH patients of Yi nationality,1166C and 235T allele frequencies were 0.038 and 0.772. No significant differences in allele frequency or genotype frequency were observed between the two groups(P > 0.05).(2)The levels of TC,LDL-C and TG in EH were significantly higher than those in controls(P < 0.05). Conclusion The AT1R A1166C and AGT M235T polymorphisms were not related to the pathogenesis of EH in the male of Yi people. However,the high levels of TC,TG and LDL-C might be the risk factors of EH.

Investigation and analysis on teaching status quo of medical genetics in Kunming Medical ;University / 中华医学教育探索杂志

Objective To improve the teaching quality of medical genetics. Methods A medi-cal genetics questionnaire survey was designed and conducted among 2012 grade undergraduates of Kunming Medical University. The results of the questionnaire were statistically analyzed by Kruskal-wallis test. Results The students felt that, there were differences in the importance and difficulty of teaching sections (Z=395.818,Z=117.786,P<0.001). The practical abilities were different after learn-ing (Z=139.364,P<0.001). Most of the students had strong demand for clinical practice and genetic counseling, there were differences in the degree of demand in students of different majors (Z=8.432, P=0.038). Conclusion Method of adjusting teaching content and method was proposed and adding clinical practice in the future was recommend to improve the teaching quality .

Reflection on medical genetics teaching for lower grade undergraduates / 中华医学教育探索杂志

In order to improve the quality of teaching in medical genetics,we adopted a lot of measures in medical genetics teaching program according to the requirements of basic course and the characteristics of lower grade undergraduates.Firstly,cultivating students' awareness of genetic diseases; Secondly,integrating related courses and selecting teaching contents seriously; Thirdly,guiding the class by introducing cases of illness.The results showed that these methods can promote the understanding of medical genetics and improve the quality of study in lower grade undergraduates.