诱导多能干细胞(iPS)是怎么让成年细胞『返老还童』的？
How do induced pluripotent stem cells (iPS) rewind adult cells to a youthful state?
Yamanaka 在 2006 年发现只需导入 OCT4、SOX2、KLF4、c-MYC 等少数转录因子，就能把已分化的成纤维细胞重编程回类似胚胎干细胞的多能状态。这为疾病建模、药物筛选和再生医学提供了不依赖胚胎的细胞来源。
Yamanaka found in 2006 that introducing just a few transcription factors—OCT4, SOX2, KLF4, c-MYC—reprograms differentiated fibroblasts back to an embryonic-like pluripotent state. This gives an embryo-free cell source for disease modeling, drug screening, and regenerative medicine.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 来源待核验 · Source pending review
来源 · Source
出处备注：著录含书名，但缺版次 / 出版社 / 年份中的一部分，需编辑补全后才能做独立比对。
Takahashi 与 Yamanaka《诱导多能干细胞》(Cell, 2006)；Yamanaka《iPS 细胞》(Nobel Lecture, 2012)；美国 NIH
Takahashi & Yamanaka, 'Induction of pluripotent stem cells' (Cell, 2006); Yamanaka, 'iPS cells' (Nobel Lecture, 2012); US NIH
#iPS #重编程 #转录因子 #多能性
什么是遗传病携带者筛查，为什么健康人也要做？
What is genetic carrier screening, and why do healthy people take it?
许多严重遗传病是常染色体隐性遗传，携带一个致病变异的人完全健康，但若夫妻双方携带同一基因的变异，每次怀孕有约1/4的机会生育患儿。携带者筛查就是在孕前或孕早期检测这类变异，常见目标包括地中海贫血、脊髓性肌萎缩症、耳聋相关基因和囊性纤维化，近亲结婚或特定族群风险更高。筛查结果需由遗传咨询师解读，帮助夫妻了解风险并做出知情的生育选择。
Many serious genetic diseases are autosomal recessive: a person carrying one pathogenic variant is perfectly healthy, but if both partners carry a variant in the same gene, each pregnancy has about a one-in-four chance of an affected child. Carrier screening looks for such variants before or early in pregnancy, commonly targeting thalassaemia, spinal muscular atrophy, deafness genes and cystic fibrosis, with higher risk in consanguineous couples and certain populations. Results should be interpreted by a genetic counsellor so couples understand their risk and can make informed reproductive choices.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#携带者筛查 #隐性遗传 #遗传咨询 #孕前检查
为什么携带一个镰状细胞基因在疟疾流行区反而是优势？
Why is carrying one sickle cell gene an advantage where malaria is endemic?
镰状细胞病源于β-珠蛋白基因的一个点突变，纯合子红细胞在低氧时变形镰状，引发血管阻塞、剧痛和器官损害。而杂合子（镰状细胞特征携带者）平时几乎无症状，被恶性疟原虫感染的红细胞更易变形并被清除，因此发生重症疟疾和死亡的风险明显降低。这种“杂合子优势”让该突变在撒哈拉以南非洲等疟疾高发地区保持较高频率，是人类进化中平衡选择的经典范例。
Sickle cell disease arises from a single point mutation in the beta-globin gene; in homozygotes red cells deform into a sickle shape when oxygen is low, causing vessel blockage, severe pain and organ damage. Heterozygotes with sickle cell trait are largely symptom-free, and their infected red cells deform and are cleared more readily, so their risk of severe malaria and death is substantially lower. This heterozygote advantage keeps the mutation common in malaria-endemic regions such as sub-Saharan Africa and is a textbook example of balancing selection in human evolution.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 已核验 · Verified 2026-11-02
来源 · Source
Allison AC《镰状细胞性状对亚急性疟疾感染的保护作用》. BMJ, 1954
Allison AC. Protection afforded by sickle-cell trait against subtertian malarial infection. BMJ. 1954.
独立核验依据 · Independent verification: 核验依据 1 CROSSREF 标识 10.1136/bmj.1.4857.290：Protection Afforded b
#镰状细胞 #杂合子优势 #疟疾 #平衡选择
携带BRCA1/2致病突变意味着什么？
What does carrying a pathogenic BRCA1/2 variant mean?
BRCA1和BRCA2是参与DNA双链断裂同源重组修复的抑癌基因，其致病突变使细胞修复能力下降、基因组不稳定。携带者一生中患乳腺癌的风险显著升高（不同研究估计约45%～70%），卵巢癌风险也明显增加，男性携带者的乳腺癌和前列腺癌风险上升。发现突变并不等于患病，可通过加强影像监测、必要时的降风险手术，以及对已患癌者使用PARP抑制剂来管理，检测前后都应有专业遗传咨询。
BRCA1 and BRCA2 are tumour-suppressor genes involved in homologous recombination repair of DNA double-strand breaks, and pathogenic variants leave cells unable to repair properly, destabilizing the genome. Carriers face a markedly higher lifetime risk of breast cancer - estimates range from roughly 45% to 70% - as well as clearly raised ovarian cancer risk, while male carriers have higher breast and prostate cancer risk. Carrying a variant is not the same as having cancer: it is managed with intensified imaging surveillance, risk-reducing surgery where appropriate, and PARP inhibitors for those already affected, always with genetic counselling before and after testing.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#BRCA1/2 #同源重组修复 #遗传性乳腺癌 #PARP抑制剂
肠道菌群是怎样影响人的健康和疾病的？
How does the gut microbiome influence human health and disease?
定居肠道的万亿微生物参与消化膳食纤维、合成维生素 K 和短链脂肪酸、训练免疫系统并抵御病原菌。NIH 人类微生物组计划系统绘制了这些群落，失衡与肥胖、炎性肠病等多种疾病相关。
Trillions of gut microbes digest fiber, make vitamin K and short-chain fatty acids, train immunity, and fend off pathogens. The NIH Human Microbiome Project mapped these communities, and their imbalance is linked to obesity, inflammatory bowel disease, and more.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 已核验 · Verified 2026-11-04
来源 · Source
Turnbaugh, P.J. et al.,《An obesity-associated gut microbiome with increased capacity for energy harvest》, Nature, 2006 (DOI: 10.1038/nature05414)；NIH 人类微生物组计划(HMP)；Sonnenburg《饥饿的肠道微生物》
Turnbaugh et al., 'An obesity-associated gut microbiome with increased capacity for energy harvest', Nature, 2006, DOI: 10.1038/nature05414; NIH Human Microbiome Project (HMP); Sonnenburg, 'The Good Gut'
独立核验依据 · Independent verification: 核验依据 1 Crossref DOI 10.1038/nature05414
#肠道菌群 #微生物组 #短链脂肪酸 #免疫训练
哪些常见病有明显的遗传倾向？
Which common diseases have a notable hereditary tendency?
许多常见病有遗传易感性，如某些乳腺癌（BRCA 基因）、结肠癌、2 型糖尿病、高血压和地中海贫血。遗传增加风险而非必然发病，环境和生活方式同样重要。
Many common diseases have hereditary susceptibility, such as some breast cancers (BRCA genes), colon cancer, type 2 diabetes, hypertension, and thalassemia. Genetics raises risk rather than guaranteeing disease; environment and lifestyle also matter.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#遗传病 #BRCA #易感性
线粒体DNA为何只来自母亲？
Why is mitochondrial DNA inherited only from the mother?
受精时精子线粒体通常随尾部被弃于卵外，而卵子富含线粒体，故线粒体DNA几乎全由母亲传给后代，可用于母系溯源。
At fertilization the sperm's mitochondria are left outside the egg, while the egg is mitochondria-rich, so mitochondrial DNA is inherited almost solely from the mother—useful for maternal ancestry.
难度 专业 · 适合 大众
CC BY 4.0 · 已核验 · Verified 2026-10-04
来源 · Source
Klug、Cummings 与 Spencer《遗传学概念》（Concepts of Genetics）细胞质遗传章节
Klug, Cummings & Spencer, Concepts of Genetics (cytoplasmic/maternal inheritance chapter)
独立核验依据 · Independent verification: 核验依据 1 ISBN 978-1-292-07727-7 (Global Edition, 11th ed., Pearso
#线粒体 #母系遗传
CRISPR-Cas9 是怎样对基因进行精确编辑的？
How does CRISPR-Cas9 edit genes precisely?
CRISPR 利用一段向导 RNA 把 Cas9 蛋白带到与靶序列互补的 DNA 位点，Cas9 像分子剪刀在那里切开双链，细胞随后以非同源末端连接或同源重组修复，实现敲除或定点修改。Doudna 与 Charpentier 阐明该机制，获 2020 年诺贝尔奖。
CRISPR uses a guide RNA to bring the Cas9 protein to a DNA site matching the guide; Cas9 cuts like molecular scissors, and the cell's own repair—non-homologous end joining or homology-directed repair—knocks out or edits the gene. Doudna and Charpentier clarified this, winning the 2020 Nobel Prize.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 已核验 · Verified 2026-11-04
来源 · Source
Doudna 与 Charpentier《CRISPR-Cas9 的适应性免疫》(Science, 2012)；Jinek 等《可编程双链 DNA 切割》(Science, 2012)；美国 NIH
Doudna & Charpentier, 'A programmable dual-RNA guide' (Science, 2012); Jinek et al., 'Programmable dual-RNA–Cas9' (Science, 2012); US NIH
独立核验依据 · Independent verification: 核验依据 1 Crossref DOI 10.1126/science.1225829（复合著录按段核验：本标识只担保第二段
#CRISPR #Cas9 #向导RNA #基因编辑
囊性纤维化的基因诊断以哪个基因为靶点?ΔF508 突变通过什么机制导致氯离子通道功能丧失?
Which gene is the diagnostic target in cystic fibrosis, and by what mechanism does the ΔF508 mutation abolish chloride channel function?
囊性纤维化由 CFTR 双等位基因致病突变所致,最常见的突变是 ΔF508,即第508位苯丙氨酸缺失。该突变使蛋白折叠异常而被内质网质量控制体系滞留并降解,有功能的氯离子通道无法到达上皮细胞顶膜,造成汗腺、胰腺导管和气道的分泌紊乱。确诊依赖 CFTR 全基因测序结合汗液氯离子定量,必要时加做 MLPA 以排除大片段缺失。
Cystic fibrosis results from biallelic pathogenic variants in CFTR, the commonest being ΔF508, a deletion of phenylalanine at codon 508. The misfolded channel is retained and degraded by endoplasmic reticulum quality control, so functional chloride transport never reaches the apical membrane of sweat gland, pancreatic duct, and airway epithelia. Confirmation pairs full CFTR sequencing with quantitative sweat chloride testing, adding MLPA when large deletions are suspected.
难度 专业 · 适合 高中(15-18)
CC BY 4.0 · 来源待核验 · Source pending review
来源 · Source
出处备注：此条未指向带版次的可引用著作（通识性内容、机构文件或未展开的英文书名），本库不提供独立书目出处；如需精确引用，需由编辑补全具体篇目与版次。
GeneReviews:Cystic Fibrosis(NCBI,NBK1250);Nat Rev Dis Primers 2015;1:15010
GeneReviews: Cystic Fibrosis (NCBI NBK1250); Nat Rev Dis Primers 2015;1:15010
#遗传病 #基因诊断
新生儿足跟采血筛查在查什么？
What is the newborn heel-prick blood screening looking for?
出生48～72小时后取足跟几滴血制成干血斑，可同时检测多种在早期无明显症状、但延误治疗会造成不可逆损害的疾病。常见项目包括苯丙酮尿症、先天性甲状腺功能低下、先天性肾上腺皮质增生症，各地区还会根据流行情况增加葡萄糖-6-磷酸脱氢酶缺乏症、地中海贫血或串联质谱代谢病筛查。以苯丙酮尿症为例，及早开始低苯丙氨酸饮食即可避免严重智力障碍，这正是筛查的价值所在。
A few drops of blood taken from the heel 48-72 hours after birth are dried onto a card and tested for several conditions that cause no obvious early symptoms but produce irreversible harm if treatment is delayed. Common panels include phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia, with regions adding G6PD deficiency, thalassaemia or tandem mass spectrometry for metabolic disorders as local epidemiology dictates. Phenylketonuria illustrates the point: starting a low-phenylalanine diet early prevents severe intellectual disability.
难度 进阶 · 适合 大众
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#新生儿筛查 #干血斑 #苯丙酮尿症 #先天性甲减
红绿色盲为什么男性明显多于女性？
Why is red-green colour blindness much more common in men?
编码红、绿视锥细胞感光蛋白的基因位于X染色体上。男性只有一条X染色体，一旦这条X上的基因有缺陷就会表现为色觉异常；女性有两条X染色体，通常另一条正常的即可补偿，多为携带者。因此在欧洲血统人群中约8%的男性和不到1%的女性存在红绿色觉缺陷。这种缺陷不影响健康，但会影响某些依赖颜色辨识的职业选择。
The genes for the red and green cone photopigments sit on the X chromosome. Men have only one X, so a defect in that copy shows up as abnormal colour vision, whereas women have two and the normal copy usually compensates, leaving them carriers. As a result, about 8% of men but under 1% of women of European ancestry have a red-green deficiency. It does not harm health, though it can restrict occupations that depend on colour discrimination.
难度 进阶 · 适合 小学高段(9-12)
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#色盲 #X连锁遗传 #视锥细胞 #携带者
什么是单基因病与多基因病？
What are single-gene and polygenic diseases?
单基因病由单个基因突变引起（如镰状细胞贫血），多基因病则受多个基因与环境因素共同影响（如高血压、糖尿病）。
Single-gene disorders come from one mutated gene (e.g., sickle cell), while polygenic diseases involve many genes plus environment (e.g., hypertension, diabetes).
难度 进阶 · 适合 大众
CC BY 4.0 · 来源待核验 · Source pending review
来源 · Source
出处备注：著录仅给书名，无版次与年份；同一书名常对应多个版次，不臆测具体版本。
Thompson 与 Thompson《医学遗传学》（Genetics in Medicine，第8版）
Thompson & Thompson, Genetics in Medicine (8th edition)
#遗传病 #多基因
显性和隐性基因有何区别？
What is the difference between dominant and recessive genes?
显性等位基因只要有一个拷贝就会表现，隐性则需两个拷贝都携带才显现，如许多遗传病为隐性遗传。
A dominant allele shows with one copy, while a recessive needs two copies to appear, as in many inherited disorders.
难度 进阶 · 适合 初中(12-15)
CC BY 4.0 · 已核验 · Verified 2026-10-04
来源 · Source
Klug、Cummings 与 Spencer《遗传学概念》（Concepts of Genetics）
Klug, Cummings & Spencer, Concepts of Genetics
独立核验依据 · Independent verification: 核验依据 1 ISBN 978-1-292-07727-7 (Global Edition, 11th ed., Pearso
#显性 #隐性
DNA 和基因是什么关系？
What is the relationship between DNA and genes?
DNA 是携带遗传信息的长链分子，由四种碱基按序列编码；基因是 DNA 上具有特定功能的一段序列，决定或影响一个个体的性状与疾病易感性。人类约有两万多个基因。
DNA is the long molecule carrying genetic information as a sequence of four bases; a gene is a functional stretch of DNA that determines or influences a person's traits and disease susceptibility. Humans have roughly over 20,000 genes.
难度 进阶 · 适合 初中(12-15)
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#基因 #DNA #遗传
唐氏综合征是怎么发生的？
How does Down syndrome occur?
唐氏综合征（21 三体）因第 21 号染色体多出一条所致，是最常见的染色体异常之一。典型表现包括特殊面容、智力发育迟滞和较高先天性心脏病风险，可通过产前筛查发现。
Down syndrome (trisomy 21) is caused by an extra copy of chromosome 21, one of the most common chromosomal abnormalities. Features include characteristic facial appearance, intellectual disability, and higher risk of congenital heart disease; it can be detected by prenatal screening.
难度 进阶 · 适合 小学高段(9-12)
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#唐氏综合征 #染色体 #产前筛查
什么是遗传咨询？哪些人可能需要？
What is genetic counseling and who may need it?
遗传咨询由专业人员评估遗传病风险、解释基因检测意义并帮助决策。适合有家族遗传病史、反复流产、孕前或携带者筛查、以及遗传病患儿家庭等人群。
Genetic counseling is provided by specialists who assess inherited-disease risk, explain genetic test results, and support decision-making. It helps people with a family history of genetic disease, recurrent miscarriage, those planning pregnancy or carrier screening, and families of affected children.
难度 进阶 · 适合 小学高段(9-12)
CC BY 4.0 · 已核验 · Verified 2026-08-23 · 2 条独立证据
来源 · Source
Harrison's Principles of Internal Medicine 第20版,McGraw-Hill,2018
J. Loscalzo et al., Harrison's Principles of Internal Medicine, 20th ed., McGraw-Hill, 2018
独立核验依据 · Independent verification: 核验依据 2 OPENLIBRARY ISBN 标识 9781259644047（按标识回读: Harrison's prin
#遗传咨询 #基因检测 #优生
一对表型正常的夫妇生育了一个苯丙酮尿症患儿,再生育一胎的患病风险是多少?产前诊断可采用什么方法?
A phenotypically normal couple has one child with phenylketonuria (PKU). What is the recurrence risk in the next pregnancy, and how can prenatal diagnosis be performed?
经典型苯丙酮尿症为常染色体隐性遗传病,父母均为杂合携带者时每次妊娠有25%的概率生育患儿。再次怀孕时可采集绒毛或羊水细胞,针对PAH基因已知致病变异进行分子检测实现产前诊断。患儿出生后也应尽早开始低苯丙氨酸饮食治疗,以避免不可逆的神经精神损害。
Classic PKU is an autosomal recessive disorder: when both parents are heterozygous carriers, each pregnancy carries a 25% risk of an affected child. Prenatal diagnosis can be performed by molecular testing for the known pathogenic PAH variants in chorionic villus or amniotic fluid cells. Affected newborns should also start a low-phenylalanine diet as early as possible to prevent irreversible neurocognitive damage.
难度 进阶 · 适合 大众
CC BY 4.0 · 来源待核验 · Source pending review
来源 · Source
出处备注：著录仅给书名，无版次与年份；同一书名常对应多个版次，不臆测具体版本。
《中华医学遗传学杂志》苯丙酮尿症诊疗专家共识及OMIM #261600
GeneReviews: Phenylalanine Hydroxylase Deficiency (NCBI Bookshelf NBK1504)
#苯丙酮尿症 #常染色体隐性遗传与产前诊断