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Molecular typing of familial temporal lobe epilepsy

World Journal of Psychiatry 2022年第1期12卷 98-107页

作者： Chao Liu Xiao-Zhi Qiao Zi-Han Wei Mi Cao Zhen-Yu Wu Yan-Chun Deng Department of Neurology The First Affiliated Hospital of Air Force Medical UniversityXi'an 710032Shaanxi ProvinceChina Department of Anatomy Histology and Embryology and K.K.Leung Brain Research CentreSchool of Basic MedicineAir Force Medical UniversityXi'an 710032Shaanxi ProvinceChina

The pathogenesis of temporal lobe epilepsy(TLE)was originally considered to be ***,some reports showed that TLE was clustered in some families,indicating a genetic *** the popularity of genetic testing technology,eleven different types of familial TLE(FTLE),including ETL1-ETL11,have been reported,of which ETL9-ETL11 had not yet been included in the OMIM *** types of FTLE were caused by different genes/Loci and had distinct ***1,ETL7 and ETL10 were characterized by auditory,visual and aphasia seizures,leading to the diagnosis of familial lateral ***2,ETL3 and ETL6 showed prominent autonomic symptom and automatism with or without hippocampal abnormalities,indicating a mesial temporal *** seizures were common in FTLEs such as ETL2,ETL5,ETL6 and ***4 was diagnosed as occipitotemporal lobe epilepsy with a high incidence of migraine and visual *** the diversity and complexity of the symptoms of TLE,neurologists enquiring about the family history of epilepsy should ask whether the relatives of the proband had experienced unnoticeable seizures and whether there is a family history of other neurological diseases *** FTLE patients had a good prognosis with or without anti-seizure medication treatment,with the exception of patients with heterozygous mutations of the CPA6 *** pathogenic mechanism was diverse among these genes and spans disturbances of neuron development,differentiation and synaptic *** this article,we describe the research progress on eleven different types of *** precise molecular typing of FTLE would facilitate the diagnosis and treatment of FTLE and genetic counseling for this disorder.

关键词： Temporal lobe epilepsy gene mutation gene locus Phenotypes Prognosis

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genetic analysis of five Porphyra species by isozyme markers

Genetic analysis of five Porphyra species by isozyme markers

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中国海洋湖沼学会藻类学分会第七届会员大会暨第十四次学术讨论会

作者： Shen Songdong~(1+) Xu Pu~2 Zhang Meiru~3 Yuan Zhaolan~1 Wang Jianwei~1 Zhu Jianyi~2 1.Life Sciences College,Suzhou University,Suzhou City,Jiangsu Province,China,215123 2.Department of Biology and Foodstuff engineering,Changshu Institute of Technology,Suzhou City,Jiangsu Province,China,215500 3.Marine Fisheries Institute of Jiangsu Province,Nantong City,Jiangsu Province,China,226007

Vertical polylamide gel eletrophoresis was used to investigate isozyme polymorphisms among different isolates(including wild and cultivated)of Porphyra katadai,Porphyra oligospermatangia, Porphyra yezoensis,Porphyra haitanensis,and a hybridize species(Porphyra yezoensis×Porphyra haitanensis)sampled from ***,the analyses of probable minimum loci numbers and observed alleles sum,genetic diversity,and unweighted pair-group arithmetic average(UPGMA)cluster were carried *** initial activity and resolution testing of bands of 23 enzymes,6 of them(MDH, ME,LDH,GDH,IDH and G-6-PDH)proved to be appropriate for analysis of the full sample set The probable minimum numbers of loci and alleles analyses showed that all the five species of Porphyra had an extraordinary consistant result in ME loci and ***,*** and *** differed from other three species of Porphyra in LDH and GDH loci and alleles,while *** was independent in the analyses ofMDH,*** and *** differed from other three species in IDH analyses,while *** and *** were apart from other three species in G-6-PDH *** one with another,*** was most detached in the probable minimum numbers of loci and alleles *** results of genetic diversity analysis indicate the genetic variation between the five Porphyra species studied was limited as a genetic identity of *** hybridize species(*** x ***)seemed to be the most homologue with P. oligospermatangia as got a genetic identity of 0.8937,unexpectedly got relatively lower average genetic identities with both *** and *** 4 strains of *** were relatively more divergent with an average genetic identity of 0.7428,and *** presented most differentiated, branching from all the other species,which consistent with the result summarized in the probable minimum numbers of loci and alleles analyses.

关键词： Porphyra isozyme allele gene locus genetic variety

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genetic Analysis of Five Porphyra Species by Isozyme Markers

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Marine Science Bulletin 2010年第1期12卷 65-78页

作者：沈颂东李艳燕许璞张美如袁昭兰王建伟朱建一苏州大学生命科学院江苏苏州215123 常熟理工食品工程与生物系江苏苏州215500 江苏省海产渔业研究所江苏南通226007

Vertical polyamide gel electrophoresis was used to investigate isozyme polymorphisms among different isolates （including wild and cultivated） of Porphyra katadai, Porphyra oligospermatangia, Porphyra yezoensis, Porphyra haitanensis, and a hybridize species （Porphyra yezoensis x Porphyra haitanensis） sampled from China. Whereafter, the analyses of probable minimum loci numbers, observed alleles sum, genetic diversity, and unweighted pair-group arithmetic average （UPGMA） cluster were carded out. After initial activity and resolution testing of bands of 23 enzymes, 6 of them （MDH, ME, LDH, GDH, IDH and G-6-PDH） were proved to be appropriate for analysis of the full sample set. The probable minimum numbers of loci and alleles analyses showed that the five species of Porphyra had an extraordinary consistent result in ME loci and alleles. However, P. katadai and P. oligospermatangia differed from other three species of Porphyra in LDH and GDH loci and alleles. P. katadai was independent in the analyses of MDH and P. oligosperTnatangia and P. haitanensis differed from other three species in IDH analyses. Moreover, P. yezoensis and P. haitanensis were apart from other three species in G-6-PDH analysis. Taking one with another, P. katadai was relatively separated in the probable minimum numbers of loci and alleles analyses. The results indicated that the genetic variation among the five Porphyra species was limited with a genetic identity of 0.7550. The hybridize species （P. yezoensis x P. haitanensis） seemed to be high homologue with P. oligospermatangia, unexpectedly got relatively lower average genetic identities with both P. yezoensis and P. haitanensis. The 4 strains of P. yezoensis were relatively divergent with an average genetic identity of 0.7428, and P. katadai presented the most differentiated, compared with other species, which consistented with the result summarized in the probable minimum numbers of loci and alleles analyses.

关键词： Porphyra isozyme allele gene locus genetic variety

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