A5075859854- Connexins and lens biology
- Hearing, Cochlea, Tinnitus, Genetics
- Neurogenetic and Muscular Disorders Research
- Connective tissue disorders research
- Biomedical and Engineering Education
- Skin and Cellular Biology Research
- Plant Reproductive Biology
- Orthopedic Surgery and Rehabilitation
- Fibroblast Growth Factor Research
- RNA regulation and disease
- Intraocular Surgery and Lenses
- Dermatological and Skeletal Disorders
- Endoplasmic Reticulum Stress and Disease
- Craniofacial Disorders and Treatments
- Genomics and Rare Diseases
- Cancer-related molecular mechanisms research
- Reproductive Biology and Fertility
- Retinal Diseases and Treatments
- Soft tissue tumors and treatment
- Neonatal Respiratory Health Research
- Congenital limb and hand anomalies
- Retinal Development and Disorders
- Sperm and Testicular Function
- Sarcoma Diagnosis and Treatment
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Sichuan University
2013-2022
Hunan University
2015-2019
State Key Laboratory of Biotherapy
2014
Huaihua University
2011-2013
West China Hospital of Sichuan University
2013
To characterize the clinical features and molecular genetic findings in a Chinese pedigree with Malattia leventinese/Doyne honeycomb retinal dystrophy.All patients underwent ophthalmologic examinations, including Snellen best-corrected visual acuity, fundus photography, autofluorescence imaging, fluorescein angiography, optical coherence tomography. Genomic DNA was isolated from blood samples. All exons of EFEMP1 were amplified by polymerase chain reaction sequenced. Possible structural...
Autosomal recessive (AR) non-syndromic hearing loss (NSHL) is the most common form of hereditary deafness. Mutations in gap junction protein beta 2 (GJB2) gene encoding connexin 26 (Cx26) account for about 50% cases ARNSHL. In current study, a combination exome sequencing and Sanger Chinese Dong family with ARNSHL allowed identification novel compound heterozygous mutation c.240G>C(p. Q80H)/C.109G>A(p.V37I) exon GJB2 gene, which co-segregated disease phenotype this was not evident 100...
To analyze clinical symptoms and disease-causing mutations of corneodesmosin (CDSN) gene in a Chinese family affected with hypotrichosis simplex the scalp to establish method for prenatal diagnosis.Family survey examinations were carried out determine inheritance pattern. Three patients 7 unaffected relatives from family, addition 100 unrelated healthy controls recruited. Genomic DNA peripheral blood leukocytes was extracted. Five pairs primers designed based on CDSN sequence. Exons flanking...
Neurofibromatosis type 1 (NF1) is a progressive neurocutaneous disorder in humans, mainly characterized by café-au-lait macules (CALMs) and neurofibromas. NF1 caused variants of the neurofibromin gene (NF1), which encodes Ras-GTPase-activating protein called neurofibromin. may result loss function elevation cell proliferation tumor formation. In this study, Chinese family with an autosomal dominant inheritance pattern was recruited. Exome sequencing Sanger were performed to discover...
To identify potential mutations in a Chinese family with Usher syndrome type II.Genomic DNA was obtained from two affected and four unaffected members of the subjected to amplification entire coding sequence splicing sites USH2A gene. Mutation detection conducted by direct sequencing PCR products. A total 100 normal unrelated individuals were used as controls.The patients identified be compound heterozygote for mutations: c.8272G>T (p.E2758X) exon 42 his mother c.12376-12378ACT>TAA(p.T4126X)...
To investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism order to attain diagnosis provide prenatal diagnosis.Five patients two unaffected relatives from family, addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 13 of amplified using polymerase chain reaction (PCR). PCR products sequenced both directions.All had similar features including short stature, limbs, lumbar hyperlordosis but normal...
To identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.Two patients, five unaffected relatives of and 100 unrelated healthy controls were collected. The coding sequences intron/exon boundaries EXT1 gene amplified polymerase chain reaction (PCR) sequenced.A heterozygous c.600G>A (p.Trp200X) mutation in exon 1 was detected patients. same not found members controls.The osteochondromas is caused by nonsense gene.
The entering means of a new class is an important step, and the teacher should consider many factors comprehensively according to theory modern education, such as content teaching characteristic students. On basis our experience teaching, in this paper we summarized principles skills incoming on medical genetics order instruct class. Key words: Medical genetics; Principles class; Skills
Medical genetics is an important part of higher medical education.Facing the practical requirement,medical teaching should be combined with clinical application.In this article,we discussed current situation and bewilderment in proposed some strategies to improve teaching. Key words: Medical genetics; Teaching reform; Network resource; Clinical practice
Ichthyosis vulgaris (IV) is one of the most ordinary hereditary keratinising illness, characterised by scaly, dry skin, and palmoplantar hyperlinearity. The function loss filaggrin (FLG) gene mutations considered as molecular aetiology for IV. In this study pathogenic variants a Chinese IV family were explored exome sequencing PCR sequencing. Two null heterozygous in FLG coexisted pedigree, including c.7249C>T (Q2417X) c.10225C>T (R3409X). Q2417X variant was only found proband their...