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关键词： 自然流产   染色体微阵列   染色体异常   拷贝数变异   产前诊断  

摘要： 目的应用染色体微阵列分析(chromosomal microarray analysis,CMA)技术探讨自然流产的遗传学病因。方法收集106例自然流产样本,取胎儿组织行CMA检测,分析基因组拷贝数变异。结果检测成功94例,成功率为88.68%。共检出染色体异常54例(57.45%),其中染色体数目异常44例,以非整倍体为主,其次为三倍体和嵌合体。检出致病性拷贝数变异4例,其中两例累及猫叫综合征区域。另检出染色体嵌合体6例。结论染色体数目异常及拷贝数变异是早期自然流产的重要原因。CMA能够快速明确其遗传学病因。本研究显示孕10~11+6周自然流产胎儿染色体异常检出率最高,可为临床咨询提供依据。

关键词： 婴儿致死性僵直性肌原纤维肌病   肌肉僵直   呼吸衰竭   CRYAB基因  

摘要： 目的探讨婴儿致死性僵直性肌原纤维肌病的临床、骨骼肌病理和遗传学特征。方法回顾性分析2017年2月至2021年4月深圳市儿童医院诊治的10例确诊为婴儿致死性僵直性肌原纤维肌病患儿的临床表现、实验室检查和基因检测结果。对其中3例患儿实施头颅、骨骼肌磁共振成像(MRI)、肌电图检查,2例实施肌肉活检。结果患儿分布为东北和华东地区各1例,华南地区8例。10例患儿中,男8例,女2例。患儿之间无血缘关系,出生时均正常。患儿发病年龄为2~12个月。10例患儿主要临床表现为进行性腹直肌(8例)、颈部肌(7例)、后背肌(2例)和肋间肌(1例)僵硬,导致呼吸衰竭。血清肌酸激酶轻度至中度升高(436~5 804 IU/L)(参考范围:24~229 IU/L)。肌电图示复合重复放电,未见肌强直电位发放。股外侧肌和腹直肌活检示肌纤维变性、坏死和空泡变性,未见明显炎症细胞浸润。改良格莫瑞染色部分视野可见红色颗粒状异常沉积物。骨骼肌免疫组织化学染色可见desmin蛋白大量沉积。电镜下可见肌纤维的肌节结构严重紊乱,Z盘破坏及颗粒状沉积物。10例患儿全外显子基因测序均表现为分别来自于父母的CRYAB基因的c.3G>A,***1?纯合变异,父母均为杂合变异。结论腹直肌僵硬等中轴肌受累是婴儿致死性僵直性肌原纤维肌病的临床特征。CRYAB基因c.3G>A,***1?变异是中国患儿的热点突变。

关键词： 癫痫性脑病,早发   全外显子组测序   拷贝数变异  

摘要： 目的探究病因不明的早发癫痫性脑病(EOEE)的遗传学病因及其在早期诊断中的价值。方法前瞻性收集2018年1月至2021年1月就诊于福建省立医院门诊及住院部的60例病因不明的EOEE患儿的资料,采集外周血进行全外显子组测序及拷贝数变异(CNV)检测,分析患儿临床特点、遗传学测序结果。结果检测出EOEE相关的致病或可疑致病突变24例,包括婴儿痉挛症(10例)、Dravet综合征(3例)、吡哆醇依赖性癫痫及大田原综合征(各1例)、非已知癫痫性脑病(9例)。患儿起病年龄1 d~11个月(中位年龄4.2个月),就诊年龄2 d~4岁(中位年龄10个月),确诊年龄均控制在就诊1个月以内。发现单基因变异20例(33.3%),CNV 4例(6.7%);涉及13种基因:KCNQ2、SCN1A、SCN8A、CACNA1E、CDKL5、PPP3CA、PCDH19、TSC1、TSC2、ZEB2、ALDH7A1、DCX、HNRNPU;4例CNV异常分别为17p13.3缺失、11q23.3q25缺失、1q36.31-p36.33缺失、1q43-1q44缺失合并Xp22.33重复;共20种变异为国内外首次报道的新发位点;11q23.3q25缺失导致婴儿痉挛症为国内外首次报道;ZEB2变异导致婴儿痉挛症、PPP3CA基因导致癫痫性脑病均系国内首例报道。结论基因与CNV是EOEE患儿的重要潜在病因,病因不明时联合采用全外显子组测序和CNV测序技术检测,可提高EOEE患儿的遗传学病因诊断水平;对此类患儿早期进行遗传学检测,可以早期确诊及进行癫痫精准治疗。

关键词： 胚胎植入前遗传学检测   微信   随访   产前诊断   依从性  

摘要： 比较传统电话随访和微信随访对胚胎植入前遗传学检测(PGT)后持续妊娠的患者行产前诊断和无创DNA产前检测技术的依从性效果。方法 回顾性分析2016年1月1日至2019年12月31日于我院胚胎植入前遗传学检测治疗后妊娠患者的随访资料,根据随访方式的不同分为电话组和微信组,比较两组的产前诊断率及无创DNA产前检测率。结果 传统电话组有310例行产前诊断(34.0%),162例行无创DNA产前检测(17.8%);微信组有722例行产前诊断(52.8%),308例行无创DNA产前检测(22.5%),微信组患者产前诊断率(34% vs 52.8%,P0.000)及无创DNA产前检测率(17.8% vs 22.5%,P0.006)均显著高于传统随访组。结论 微信随访方式有利于提高PGT患者随访依从性,提高NIPT检测率,让患者更容易接受产前诊断,延续护理效果更佳。

关键词： 中国医学科学院   国际学术期刊   云南少数民族   团队合作   生物学研究所   徐书  

摘要： 2022年7月21日,国际学术期刊《BMC Biology》在线发表了复旦大学生命科学学院徐书华教授团队与中国医学科学院医学生物学研究所褚嘉祐研究员团队合作研究成果“Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan”。

关键词： 遗传学   减数分裂   配对   联会   重组  

摘要： 减数分裂时期染色体行为作为遗传学三大遗传规律(基因分离规律、基因自由组合定律及连锁遗传规律)的细胞学基础,是遗传学教学中的重点,也是生命科学前沿研究的焦点.快速发展的分子生物学为减数分裂的分子机制提供了更深的认识和理解,并出现一些与教科书内容不一致的情况.本文对减数分裂研究前沿进行简单综述,重点阐述对减数分裂时期配对、联会和重组关系的新认识,以期将前沿研究融入遗传学教学之中,从而激发学生的学习兴趣,提高授课效果.

关键词： 线虫   杂交实验   遗传学三大定律   科学探究  

摘要： 以线虫为材料,在观察的基础上利用其生殖特点设计并实施实验,重现了遗传学三大定律.通过培养线虫、设计杂交实验、参与实验结果统计与分析,学生既能充分体验完整的科学探究过程,又能加强对遗传学相关知识的理解和迁移应用.由于线虫的生殖方式不同于传统遗传学实验材料(如豌豆、果蝇),还能进一步培养学生解决真实问题的思辨和创新能力.

关键词： 思政元素   课程思政   遗传学   案例分析  

摘要： 为提升专业教师对课程思政的认同,推广其在教学实践中的结合与应用,本文通过梳理遗传学课程知识,从历史事件、学科发展和身边科学家的事迹出发,结合理论知识案例、优秀科学家案例和与法律相关案例,分享了课程思政教育教学方法,教学环节的组织与设计,培养学生的爱国敬业之情怀、科学研究之素养,树立文化自信与法制意识等.本文对遗传学及相关学科在教学中有效融合思政元素具有一定借鉴与启发作用.

摘要： This dissertation comprises five chapters to describe genetics and genomics education among physician assistant/associate (PA) students and practicing PAs. Chapter I introduces the gap in supply and demand of genetic services, the need for non-genetics healthcare providers to fill the gap, and the PA profession as a solution. Chapter II is a rapid literature review that summarizes the available literature regarding genetics and genomics education for PAs. A paucity of literature exists to describe the current state of PA genetics-genomics education. The few studies retrieved describe content being taught in PA programs, the number of genetics-genomics contact hours PA students receive, and recommendations for continuing education programs. Most of the available literature is outdated, however, leaving a need for more current information to inform the education of genetic- and genomic-competent PAs. Chapter III describes a PA program survey that assesses the current landscape of genetics and genomics education in PA student training. Findings showed that each responding program reported integrating some form of genetics and genomics into their curriculum; however, no standardization existed between programs. The number of contact hours was unchanged, and content was less dispersed throughout PA curricula than reported in a similar 2007 survey. Although the field of medical genetics-genomics has advanced significantly since the previous survey conducted 14 years ago, the landscape of genetics-genomics education in PA student training has not. Chapter IV describes a survey of practicing PAs to determine their genetics and genomics knowledge, attitudes, and application in practice. Findings indicated that PAs do not feel adequately trained for genomic healthcare. PAs lack knowledge and confidence in integrating genetics and genomics into the care of their patients; however, PAs have a positive attitude towards genetics and genomics and want to improve their knowledge an

摘要： Objectives: Alzheimer's disease-related dementia is a devastating neurodegenerative disease that affects millions of people. The goal of this work is to investigate biological mechanisms such as weight loss and mitochondrial function that can serve as prognostic factors for dementia, healthy aging, and longevity. Methodologies: This work consists of two separate systematic literature reviews, and an investigational study. The first review examined existing studies on weight trends in dementia. The second review investigated the role of mitochondria and its associated gene TOMM40 in aging. The third paper included a nested case control analysis of weight change patterns before and after diagnosis with dementia while controlling for genetic risk factors. Results: The first literature review revealed that weight loss can be detected at least a decade prior to a diagnosis of dementia, and weight loss continued after diagnosis. The second review on genetic variants in the TOMM40 gene found associations with longevity, cognitive function, and body mass index. A statistical analysis of 11,000 participants from the Health and Retirement Study revealed that people who lost weight in middle to late age had a two-fold increased risk of developing dementia even after adjusting for APOE gene variants, and genetic predictors for longevity and body mass index. Conclusions: Although the review suggested that polymorphisms in genes APOE and TOMM40 are associated with changes in cognition, BMI, and longevity; the analysis suggested that weight loss in dementia is an independent biological process. Pre-dementia weight loss may be useful for predicting future incidence of cognitive decline.