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全部话题 - 话题: mutation
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l**********1
发帖数: 5204
1
BGI or others just try
NGS with both blood samples Ye Shiwen and Katie Ledecky
plus below six athletes total 8 athletes
performance profiling”方法,将所有国际上
有名的现役游泳运动员的比赛成绩,进行profiling分析,发现最高分排名(也就是最
“anomalous”的排名)是:
1. Elizabeth Beisel
2. Michael Phelps
3. Rebecca Adlington
4. Ian Thorpe
5. Stephanie Rice
6. Allison Schmitt
while can find proof of her EPOR mutation which is identical to Finnish
cross-country skier Eero Mäntyranta
and also is different to former matchs any DNA samples Ge... 阅读全帖
s******y
发帖数: 28562
2
来自主题: Biology版 - 日本福岛发现畸形 蝴蝶
爆发核危机的日本福岛县蝴蝶出现严重基因突变,而且突变已经积累和传代。
昆虫类由于繁殖快而且对环境毒素敏感,是测量环境污染的重要指标之一。
其他比较大型动物的影响则需要更多时间才能看出来,科学家们目前对此仍
无结论。
http://blogs.discovermagazine.com/80beats/2012/08/15/mutant-but
Japanese authorities may have cleared out the human population around the
ruined Fukushima Daiichi nuclear power plant, but the native wildlife is
still there. A month after the accident, scientists who study the pale grass
blue butterfly collected 144 near the plant, and found that they had begun
to show mutations like dented... 阅读全帖
u*********1
发帖数: 2518
3
这个,还是少说点废话空话大话。。。
说个对自己研究最实在的:
我分析exome data,希望寻找可能的disease-causing mutation;目前大家主要关注的
还是exon里面的nonsynonymous mutation,或者frameshift mut (主要还是SNP,然后
加上少数indel);而且还要通过1000G的筛选找到rare mutation,还要根据疾病的模
型进一步筛选。所以筛选到最后,反正我自己的project就是找不到。
那么我就想问,是不是这个ENCODE出来了以后,等于说更多的genome被annotate了?那
我们的寻找disease mutation的眼光就不用只放在exon上了?。。。可能致病位点就是
在那些regulatory sites上呢。。。当然这样就不能仅限于exome测序了。。。。。但
到底多少疾病是因为regulatory region的SNP导致的呢?我看nature genetics上很多
遗传病或者遗传相关的疾病还是exome的突变导致的
z*t
发帖数: 863
4
在做相关项目,上来胡说几句,当是抛砖引玉,大家多多指正
otto warburg老早就发现cancer更喜欢glycolysis,还因此得了诺奖,之前的肿瘤代谢
主要在体外造影上有一定的应用,为啥肿瘤代谢要到现在又火了呢。在这个field里真
正让代谢又火起来的个人看来是三个topic: PKM2, IDH1/2, Lkb1/mTor/AMPK。
尤其是Lewis Canteley 2008 Pkm2的nautre,让人们知道了cancer cell是如何建立
Warbug
effect的,这之后各种可能和warburg effect相关的pathway又被人们陆续挖掘了出来
。而通过对PKM2/LDHB等glycolysis相关酶的knockdown, tumor cell的生长也确实受到
了影响。
这个领域重新开始火的另外一个原因是在2000-2010这十年间组学概念的热潮,催生了
代谢组这个概念。现在用GC/LC-MS进行代谢组的测定已经成为和microarray测转录一样
的技术了,肿瘤代谢的第二个重磅炸弹是Bert Vogelstein发现在glioma里有相当高比
例的ID... 阅读全帖
z*t
发帖数: 863
5
在做相关项目,上来胡说几句,当是抛砖引玉,大家多多指正
otto warburg老早就发现cancer更喜欢glycolysis,还因此得了诺奖,之前的肿瘤代谢
主要在体外造影上有一定的应用,为啥肿瘤代谢要到现在又火了呢。在这个field里真
正让代谢又火起来的个人看来是三个topic: PKM2, IDH1/2, Lkb1/mTor/AMPK。
尤其是Lewis Canteley 2008 Pkm2的nautre,让人们知道了cancer cell是如何建立
Warbug
effect的,这之后各种可能和warburg effect相关的pathway又被人们陆续挖掘了出来
。而通过对PKM2/LDHB等glycolysis相关酶的knockdown, tumor cell的生长也确实受到
了影响。
这个领域重新开始火的另外一个原因是在2000-2010这十年间组学概念的热潮,催生了
代谢组这个概念。现在用GC/LC-MS进行代谢组的测定已经成为和microarray测转录一样
的技术了,肿瘤代谢的第二个重磅炸弹是Bert Vogelstein发现在glioma里有相当高比
例的ID... 阅读全帖
s******9
发帖数: 283
6
NCBI protein database一般都有标注吧。
FEATURES Location/Qualifiers
source 1..503
/organism="Homo sapiens"
/db_xref="taxon:9606"
gene 1..503
/gene="TGFBR1"
/gene_synonym="ALK5"
/gene_synonym="SKR4"
Protein 1..503
/gene="TGFBR1"
/gene_synonym="ALK5"
/gene_synonym="SKR4"
... 阅读全帖
l*******i
发帖数: 153
7
Bless宝宝!
请问楼主做的是exome-seq吧?宝宝父母也都测了吗?近亲有遗传史吗?如果没有,父
母均正常的话,很有可能应该就是de novo mutation了。de novo mutation在新生儿中
的发生率非常低,而且80%以上位于exon。
如果exome-seq没有发现de novo mutation,那说明mutation可能位于gene调控区,甚至
intron,上GWS或许可以发现某些异常,但是代价比较高昂。
我想说的是,像这样的基因缺陷病(姑且这么说吧,宝宝不一定是),最后即使找到了
defect的gene,对治疗可能也没你所期望的帮助。因此,我觉得,楼主现在首先要做的
是应该明确诊断,对症治疗是关键,首先把宝宝的病情控制住了,尽量减轻疾病带来的
伤害。

MCT
l****y
发帖数: 486
8
来自主题: Biology版 - KNOCK-IN animal design
Not sure about your point here.
For example, if you are studying a kinase function in neurobiology. You
found total KO of your gene leads to embryonic lethal phenotype, and
conditional KO of your gene in neuron leads to very interesting phenotype.
Culturing of KO neuron in vitro also showed dramatic phenotype.
Interestingly, restoration of kinase dead (KD) mutant in KO neuron fully
rescued the phenotype (same as restoration of WT).
You wonder whether the neuronal phenotype you observed in vivo i... 阅读全帖
v********a
发帖数: 646
9
面对这个1979年的单身女郎,从中专毕业,到参加成人自考拿到同等学历,然后一路逆
袭,最后傲然在苏州大学就职。
只有两个字:佩服
http://hlxy.suda.edu.cn/jiaoxuekeyan/yanjiushengdaoshiminglu/20
王丽,女,教授,硕士研究生导师
研究方向
慢性病运动康复:重症病者包括心脑血管疾病、骨关节系统疾病和终末期肾病等患者的
运动康复。
体能与疾病:体能水平与疾病发生和预后之间的关系;
社区康复:糖尿病、骨质疏松等的社区康复护理干预。
联系方式
电话:0512-65221499 (办公室); 138-1486-1702 (手机)
邮a class="__cf_email__" href="/cdn-cgi/l/email-protection" data-cfemail="3dd99e875154104a5c535a100c7d4e48595c13585948135e53">[email protected]/* */; [email protected]/* */
地址:苏州市十梓街1号苏州大学护理学院本部20... 阅读全帖
A*G
发帖数: 256
10
来自主题: MedicalCareer版 - 妈妈的肺癌seek 2nd openion thx!
(左上肺叶肿块,左下肺叶肿块) (Mass at left superior lung lobe, and left
lower lung lobe)
高分化腺癌,以细支气管肺泡癌为主,肿块大小分别为1.5*1.0*0.8cm和1.0*0.6*0.8cm
,局部累犯脏层胸膜。Well differentiated adenocarcinoma, mainly bronchioloalveolar (
BAC), tumor size:1.5*1.0*0.8cm & 1.0*0.6*0.8cm,locally invaded to visceral
pleural.
未见明确脉管内癌拴及神经侵犯。There is no tumor emboli and no perineural invasion.
(左上肺叶后段肿块)可见部分肺泡扩张,符合肺气肿改变。另见部分区肺泡上皮不典
型增生伴癌变,病灶大小φ 0.5cm。
(mass at left superior lobe posterior lung segment) There are some alveolar inflation, ... 阅读全帖
a****y
发帖数: 1035
11
【 以下文字转载自 Biology 讨论区 】
发信人: hellowhy (夹死do it), 信区: Biology
标 题: 2011 Nobel Prize in Physiology or Medicine
发信站: BBS 未名空间站 (Mon Oct 3 08:44:48 2011, 美东)
The Nobel Prize in Physiology or Medicine 2011
shall be divided, with one half jointly to
Bruce A. Beutler and Jules A. Hoffmann
for their discoveries concerning the activation of innate immunity
and the other half to
Ralph M. Steinman
for his discovery of the dendritic cell and its role in adaptive immunity
Summary
This year's Nobel Laureate... 阅读全帖
a***a
发帖数: 12425
12
第一张照片,请数鸟(二楼更新大图),前三个掺乎的童鞋奖励单黄包,数出最多鸟的
童鞋奖励双黄包。
总是看到美洲家朱雀(House Finch),有雄有雌。情人节到了,就上这种爱一起出没
的鸟吧。树上的鸟儿成双对(或“成多对”)~~~
我的第一个关于House Finch的帖子:
http://www.mitbbs.com/article_t/Animals/79271.html
还有一个Female House Finch转头的帖子,开心一下:
http://www.mitbbs.com/article_t/Animals/83433.html
这是我的一个关于区别American Goldfinch和Lesser Goldfinch的帖子,内藏bobolink
鸟神的重要总结,精辟又精彩,错过会后悔的哦~:
http://www.mitbbs.com/article_t/Animals/85349.html
对比李冰冰他们那旮瘩的House Finch,东西部差别不大这种鸟:
http://www.mitbbs.com/article_t/Animals/85733.html
usua... 阅读全帖
l*******r
发帖数: 39279
13
【 以下文字转载自 Biology 讨论区 】
发信人: zxt (Asoka & Akaba), 信区: Biology
标 题: Re: 大家说说Cancer cell metabolism吧,这个越来越火啊!
发信站: BBS 未名空间站 (Sun Nov 4 01:53:57 2012, 美东)
在做相关项目,上来胡说几句,当是抛砖引玉,大家多多指正
otto warburg老早就发现cancer更喜欢glycolysis,还因此得了诺奖,之前的肿瘤代谢
主要在体外造影上有一定的应用,为啥肿瘤代谢要到现在又火了呢。在这个field里真
正让代谢又火起来的个人看来是三个topic: PKM2, IDH1/2, Lkb1/mTor/AMPK。
尤其是Lewis Canteley 2008 Pkm2的nautre,让人们知道了cancer cell是如何建立
Warbug
effect的,这之后各种可能和warburg effect相关的pathway又被人们陆续挖掘了出来
。而通过对PKM2/LDHB等glycolysis相关酶的knockdown, tumor cell的生长... 阅读全帖
c********n
发帖数: 1065
14
老大,您先给自己科普一下好不好。
男性的y染色体的非等位部分是没有mutation的,所以祖先的信息直接可以pass下来。
虽然没有mutation,但是会有突变,大约每几十代发生一次。这样就可以用这些特殊的
突变点trace人类的迁移踪迹。实际上成功迁徙出非洲那支San人当时的population非常
少(因为冰川,死的都差不多了),所以带出来的y基因基本上是单一一种的,然后可
以可以利用在各个地方settle的人的y基因的突变标识trace整个人类的迁徙过程。
对于女性来讲,线粒体dna也是没有mutation的(但会发生突变),所以母系的宗族信
息(突变标记)可以通过女性一直pass下来。
g***j
发帖数: 40861
15
楼主你先解释一下这段
“男性的y染色体的非等位部分是没有mutation的,所以祖先的信息直接可以pass下来
。虽然没有mutation,但是会有突变,大约每几十代发生一次。”
你这里的MUTATION不是突变的意思,那么是什么意思?
x****u
发帖数: 12955
16

Still doesn't see what's logically wrong with what he said.
The difference between the two technique is one is manually introducing
genetic mutations, the other is create conditions where genetic mutations
can happen more easily naturally. You can't say one set of genetic mutation
is naturally going to be safter than the other.
x****u
发帖数: 12955
17
来自主题: Military版 - 美帝三分之一的人反对进化论

What's so hard to understand? The same mutation might have occurred and
disappeared many times in evolutionary history, but with millions upon
millions of years, there were plenty of opportunity for them to occur again
and eventually propagate. And who's to say there wasn't a mutation that
would give us telekinesis power but it didn't get passed on because that
specimen was crushed by fallen rock when it experimented with that power for
the first time?
Remember, everything you see that seemed... 阅读全帖
E*******F
发帖数: 2165
18
大约6000年前出现的ASPM基因,伴随着文字和农业的诞生
欧洲人和中东人此基因频率较高,东亚人较低,非洲人最低
A new allele (version) of ASPM appeared sometime between 14,100 and 500
years ago with a mean estimate of 5,800 years ago. The new allele has a
frequency of about 50% in populations of the Middle East and Europe, it is
less frequent in East Asia, and has low frequencies among Sub-Saharan
African populations.[6] It is also found with an unusually high percentage
among the people of Papua New Guinea, with a 59.4% occurrence.[7]
The mean esti... 阅读全帖
y******m
发帖数: 143
19
来自主题: Military版 - 马兜铃酸有什么好吵的?
在文章The effects of HBV integration into the genomes of HCC patients里作者
发现高somatic mutation 8957/sample,2.89/megabase。在文章exome sequencing of
HBV-associated hepatocellular carcinoma 指出T:A >A:T在样本中是高频出现的。
在文章The genomic landscape of fibrolamellar hepatocellular carcinoma:Whole
genome sequencing of ten patients 也发现大量mutation.
在science的文章中用了UTUC的细胞列作为阳性对照。从上面发表的文章看出病毒也可
以引大量的类似突变。AA在肝脏引起的突变会和在肾脏一样?它们为什么不用HepG2,
hcv感
染的细胞,酒精处理过肝脏细胞,
AA处理过肝脏细胞系区分他们所测到的somatic mutation是AA在肝脏独有的。
而且我觉得把所谓的AA signature 是否是... 阅读全帖
S*******l
发帖数: 4637
20
CCR5作为靶点的真正原因不是预防HIV。真的原因是CCR5 deletion mutation在欧洲人
中有10%, 没有很明显的异常。是个相对安全的靶点。敲掉后孩子出问题的几率比较小
。这个基因的研究很多年了。
纯粹是为名利的计算,和预防艾滋病有效无效根本没关系。
其实即使是CCR5 mutation,也不能保证不感染艾滋病。
有homozygous CCR5 mutation 的艾滋病人。

发帖数: 1
21
来自主题: Military版 - Breast cancer 'linked to bra size'
大奶子有惊喜
Women with larger breasts are more likely to develop breast cancer, scientis
ts believe
A study of more than 16,000 women found those with a larger bra size were at
greater risk of the disease.
The link could be down to the sex hormone oestrogen that can trigger the gro
wth of mammary glands and tumours.
The researchers found seven genetic factors significantly associated with br
east size - three of which are strongly correlated with mutations already li
nked to breast cancer.
Dr Nichola... 阅读全帖

发帖数: 1
22
来自主题: Military版 - CDC:公共卫生风险仍然“低”
CDC:公共卫生风险仍然“低”
发信站: BBS 未名空间站 (Mon Jan 27 13:05:17 2020, 美东)
美国疾病预防控制中心说,在美国发现了110例可疑冠状病毒病例;公共卫生风险仍然
“低”
CDC Says 110 Suspected Coronavirus Cases Identified In US; Public Health
Risk Remains "Low"
https://www.zerohedge.com/geopolitical/wuhan-mayor-offers-resign-coronavirus
-death-toll-accelerates-supply-shortages
Update (1150ET): Dr. Nancy Messonnier, the Director of the Center for the
National Center for Immunization and Respiratory Diseases (NCIRD), spoke on
behalf of the CDC. During the pres... 阅读全帖
a***n
发帖数: 1993
23
https://abcnews.go.com/US/conspiracy-theorists-study-concludes-covid-19-
laboratory-construct/story?id=69827832
The mutation in surface proteins, according to Garry, could have triggered
the outbreak of the pandemic, but it’s also possible that a less severe
version of the illness was circulating through the population for years,
perhaps even decades, before escalating to this point.
"We don’t know if those mutations were picked up more recently or a long
time ago," Garry told ABC News. "It’s im... 阅读全帖
L******e
发帖数: 679
24
来自主题: Medicine版 - 子欲养而亲不待-归了,求肺癌药
我就在做针对肺癌的mutational profiling.方法已经建立好了,研究部分已经作了很
多样本,现在已经转到临床诊断。
简单的说,mutational profiling 是 ‘personalized cancer therapy' 中重要的一
部分。即使都是肺癌病人,有可能是由于信号传导通路上不同的基因突变造成的。现在
肿瘤治疗中的热点就是寻找针对不同靶位点的小分子。比如:部分非小细胞腺癌(
adenocarcinoma)病人含有EGFR 基因外显子19 的突变(deletions), 造成这个信号通
路永久性活化,就是不听任何指挥,不断地让细胞增殖,癌变。针对这个靶位点的药物
Erlotinib (Irresa) 和 Gerfitinib (Tarceva)只对这类突变有效。如果突变发生在
下游的KARS基因,这两种药毫无用处。EGFR exon 19 deletions 在亚洲女性中会多一些
。皮肤癌的BRAF基因突变V600E的靶向药好象也很有效。
现在针对各个靶位点的小分子很多,部分已经进入临床试验。所以用药之前mutational
profiling 非常重要
y*****g
发帖数: 193
25
10% of breast cancers were caused by BRCA mutation. If you carries the
mutated gene, it doesn't necessarily mean that you will develop the cancer.
With your strong family history, many insurance will cover the gene test
result.
Some MDs will refer pts to genetic couseling if they suspect gene mutation
before and after genetic test, so you know what kind of options you have.
Sometimes, people fears more about the unknown to the fact than knowing the
bad news.
Removal of breast or ovaries after ch... 阅读全帖
U*********h
发帖数: 29
26
是啊,我现在是真心的好奇那个lab都给我验了啥,看报告就2页纸,主要:
1.Negative for 97 mutations analyzed (对97种突变分析为阴性)
2.Cystic Fibrosis Mutation Analysis (遗传性胰腺病免疫分析)
DNA is isolated from sample and tested for the 97 CF mutations listed.
他们这查的都是啥啊,还DNA呢。。。
相比较的,送到in-network那个lab里的血样,查了乙肝、德国麻疹抗体、血常规检验.
,etc,个人觉得只是这个lab的结果已经enough了。
这个in-network的账单才不到$1,000,保险公司砍价后我只用付不到$100
v********g
发帖数: 25
27
Not necessarily. For a female who has a male OTC offspring, there is
still a small percentage (~7%) of chance that the mutation in the male
offspring is sporadic. This means your friend might have a small chance to
be free of OTC mutation. A mutation test on the postmortem baby (sequencing his OTC gene ) followed by a test on your friend (targeted sequencing ) are strongly suggested.
FYI
http://www.ncbi.nlm.nih.gov/pubmed/7702100
http://www.ncbi.nlm.nih.gov/books/NBK1217/#ucd-overview.REF.tuc
U*********h
发帖数: 29
28
是啊,我现在是真心的好奇那个lab都给我验了啥,看报告就2页纸,主要:
1.Negative for 97 mutations analyzed (对97种突变分析为阴性)
2.Cystic Fibrosis Mutation Analysis (遗传性胰腺病免疫分析)
DNA is isolated from sample and tested for the 97 CF mutations listed.
他们这查的都是啥啊,还DNA呢。。。
c*******u
发帖数: 12899
29
来自主题: NextGeneration版 - [合集] [bssd]我的孩子,我的经历
☆─────────────────────────────────────☆
aprilxu (妞妞是个乖宝宝) 于 (Fri Mar 30 00:33:44 2012, 美东) 提到:
我已经很久很久不发帖了,自从我女儿确诊以后,我就再没有心思在网上发帖和回帖了
。这几天看了一些关于残疾孩子和流产的帖子,我忍不住想说几句我自己的经历,也算
是一种倾诉吧。
我女儿快三岁了,又漂亮又聪明,可是,她不会走路,而且永远也不会。她患有SMA (
Spinal Muscular Atrophy) 。这是一种genetic disorder,由于基因缺失身体无
法制造一种蛋白,严重影响她的运动神经元和所控制的肌肉,导致肌张力低下。SMA是
一种罕见病,发病率仅为万分之一,由于我和我老公都是携带者(我们都不知道,也没
有家族史),我们的孩子有四分之一的几率患病,我的女儿很不幸。
但是幸运的是,我的女儿不是最严重的情况。Type 1,也就是最严重的情况,孩子一般
不会活过两岁。我女儿属于type 2,医生没说能活多久,只是告诉我们,最终依靠仪器
,她也许能活到成年,能上college,但是... 阅读全帖
c*******u
发帖数: 12899
30
☆─────────────────────────────────────☆
Ussclmbbith (Brookwater) 于 (Wed Mar 28 19:08:37 2012, 美东) 提到:
update:
感谢各位回帖朋友的建议。经过和保险公司的沟通,他们将这个事情定义为“你找的in-network 的医生把你的血样送到了 out-of-nework的lab",当时口头答应在15日内会将这个claim按照in-network的算。
当时将信将疑,前天见OB时候告知了她此事,结果第二天一大早,系统里的claim信息就给更正过来了,保险公司议价后我们付20%,接近$500.
对以上处理结果我基本表示满意(看来还是OB和保险公司沟通过,此事才很快得以解决)
----------------------------------------------------------------------------------------
请教下各位姐妹们,我实在是没有办法了。
我在2月第一次见OB时候,抽了5管血,也就是常规的pregnancy blood test.
最近... 阅读全帖
c*******u
发帖数: 12899
31
☆─────────────────────────────────────☆
morning1225 (木鱼) 于 (Tue Jun 5 00:13:50 2012, 美东) 提到:
给各位没打算这辈子不生娃的女性
今天带我俩娃公园玩,正巧一个DAYCARE的一群10岁左右的孩子也在玩。我看到一个很
胖的女孩自己坐在树荫下,做了好半天,也没人理她,觉得将来一定不能让我娃过胖。
一会儿那个女孩走过来,一看,还是个唐氏综合症的孩子。她走到老师身边,跟一群女
孩一起玩,傻笑了一会儿。突然她就看到坐在旁边的我,蹭蹭走过来,一屁股坐在我身
边,紧挨着我。说,hi,mama.我也说hi.她就这样跟我肩并肩坐了半分钟,我们被树挡
住了,老师刚好没看到,所以没来管。突然,她就伸出胳膊,抱着我的肩膀,说,
thank you,mama.我也立刻伸出双手抱住她,不知说什么好,大概也含糊说了声thank
you.其实她太胖了,我两手环抱,前面的手只抓到她的未发育的乳房。我的心已经在滴
血了。然后我俩娃看到有人跟他们抢妈,早已围过来。这个女孩看到宝宝很开心,就去
抓他们,3个人立刻很开心玩了一会... 阅读全帖
s*******c
发帖数: 5161
32
来自主题: NextGeneration版 - [合集] 本人医生,也谈胃癌
☆─────────────────────────────────────☆
chemgene (typoid) 于 (Thu Mar 14 20:17:26 2013, 美东) 提到:
http://seer.cancer.gov/statfacts/html/stomach.html
以上是National Cancer Institute 的胃癌统计,34%的病人会在第四期时出现症状,
也就是终末期。图表粘贴如下:
Stage at Diagnosis Stage Distribution(%) 5-year Relative Survival(%)
Localized (confined to primary site) 24 62.3
Regional (spread to regional lymphnodes)31 27.7
Distant (cancer has metastasized) 34 3.7
Unknown (unstaged) 11 17.9
至于家属的... 阅读全帖
B******1
发帖数: 9094
33
Love does not require intercourse or the birth of children. Human may be the
ONLY animal whose purpose of intercourse is beyond childbearing--
it is to entertain each other. You have your own way of seeking and expressing your love.
Biological mutations are potential solutions to ongoing or forthcoming
evolution distresses. And by definition, all mutations are abnormal. No need
to kill all "abnormal" mutations.
Normal and abnormal are a pair of poles, one cannot live without the other.
In the ey... 阅读全帖
l*****u
发帖数: 3918
34
来自主题: Parenting版 - 为啥美国自闭小孩比例这么高?
Rate of de novo mutations and the importance of father's age to disease risk.
http://www.nature.com/nature/journal/v488/n7412/full/nature1139
part of the abstract:
The diversity in mutation rate of single nucleotide polymorphisms is
dominated by the age of the father at conception of the child. The effect is
an increase of about two mutations per year. These observations shed light
on the importance of the father’s age on the risk of diseases such as
schizophrenia and autism.
t******l
发帖数: 10908
35
“十年磨一剑” 是现代社会高度分工化的产物。。。换到早期人类早就饿死了。。。
我目测早期人类(hunter-gatherer)的 “执着” 程度应该是这么进化选择的。。。
一般首先是钻规则漏洞扔标枪。。。
如果标枪没击中猎物,执著个屁!。。。洗洗睡了,守株待兔,等下一个炮灰。。。
如果标枪直接集中猎物的要害,那现场聚众烧烤大会也不需要啥执著。。。
如果标枪击中猎物但没有击中要害,那先看一下自己的两条 ACTN3 有没有 mutated。
。。
如果 ACTN3 没有 mutated,那就钻标枪规则漏洞 sprint 200m dash 猛虎下山追上去
,直接近距瞄准要害,进行确保击中要害的扣篮式扔标枪。。。执著 200m。。。
如果 ACTN3 mutated,那就立马沿着猎物血迹开始 3000m steepchase,直到猎物失血
过多体力不支轰然倒地。。。执著 3000m。。。
最后万变不离其宗还是现场聚众烧烤大会。。。

:你自己不都说了嘛,“过于”,但是怎么定义这个过于呢?
:还有过于执着就真的不好吗?“十年磨一剑”咋解释呢
f******6
发帖数: 68
36
来自主题: Immigration版 - 审稿转让
现转让一篇英国皇家化学学会的杂志的稿子.
如果有相关的经验,又需要审稿,请把你的名字,单位,非个人的email发到我的邮箱.
RSC Advances
TITLE: Molecular Basis of R294K Mutation Effects of H7N9 Neuraminidases with
Drugs and cyclic peptides: An in Silico and Experimental Study
ABSTRACT:
In China, the recent outbreak of the new R294K H7N9 has infected 134 people
and killed 45 people since January 2014. Up to date Prof. Gaoet al. report
that an R294K neuraminidase (Shanghai N9: R294K mutation; Anhui N9: no R294K
mutation) results in multi-drug resistance wit... 阅读全帖
R*******d
发帖数: 13640
37
来自主题: Immigration版 - 2015年影响因子新出炉 (转载)
【 以下文字转载自 Biology 讨论区 】
发信人: liujiatian (liujiatian), 信区: Biology
标 题: 2015年影响因子新出炉
发信站: BBS 未名空间站 (Thu Jun 18 23:51:32 2015, 美东)
Rank full journal title Total Cites IF
1 ca-a cancer journal for clinicians 18,594 115.84
2 new england journal of medicine 268,652 55.873
4 lancet 185,361 45.217
6 nature biotechnology 45,986 41.514
7 nature 617,363 41.456
12 nature materials 64,622 36.503
13 jama-journal of the american medical assoc... 阅读全帖
R***o
发帖数: 3964
38
来自主题: NewYork版 - 男性是最需要年龄歧视的
genetic mutation可以向两端发展。
所以应该分两种情况:
帅到无耻的男生:越早生小孩越好。因为genetic mutation会使小孩越来越不象爸爸,
越来越丑。
丑到无耻的男生:我觉得是越晚生越好。因为他只能靠genetic mutation让小孩不象他
,从而变漂亮。

also
B***R
发帖数: 33
39
Job: Research Scientist/postdoc
Company: UT MD Anderson Cancer Center - Houston, TX
Postdoctoral Associate/Research Scientist positions are available in the
Department of Thoracic/Head and Neck Medical Oncology and Genomic Medicine,
MD Anderson Cancer Center in Houston working on exciting translational
cancer genomic research. The candidate will be working with a
multidisciplinary team involving clinicians, biologists, bioinformaticians
and biostatisticians to study the clinical implications of ... 阅读全帖
s**********1
发帖数: 305
40
来自主题: Fashion版 - 我闺蜜得了breast cancer
It all depends on. There certainly are very malignant ones like the girl
whose has spread to lymph nodes.
By the way, Caucacian has higher mutation rate in brca2. Its mutations have
strong predisposition in breast cancer. Asian have much lower mutations in
the gene. Surely hormones, diet and life style are also risks.
Check out Susan Komen breast cancer foundation for an education.

rate
S******6
发帖数: 3138
41
来自主题: TVChinese版 - 简单介绍一下关于癌症的知识
上个月的文章,不是泛泛的某“科学杂志”,是 Science。你说的这个观点,在什么地
方,请给个出处。
Most cancers are caused by bad luck not genes or lifestyle, say scientists
Scientists at Johns Hopkins University School of Medicine in the US found
that the majority of cancers are not linked to environment or lifestyle
Sarah Knapton By Sarah Knapton, Science Editor7:00PM GMT 01 Jan 2015
Comments707 Comments
The majority of cancers are the result of bad luck rather than unhealthy
lifestyles or inherited genetic faults, scientists have discover... 阅读全帖
d**********o
发帖数: 1321
42
来自主题: WebRadio版 - 潜水员冒泡兼征版友意见
第二次作业
我以为自己对这门课的戒备心到第一个项目交上去就可以平复了,可我高兴得还太早,
到了第二个项目时,subproject2a, subproject2b也都还是很简单的,可到了写最后一
个项目的时候,就赫然发现subproject2a写的copy subtree的函数prototype并不满足
最后一个小版块的要求,于是对我来说,这个项目的最后一小版块就需要从头再来(重
新再了更好用的copy函数)。
写到这个项目的最后一步,就真正体会老师基础代码的良苦用心,没有这个葫芦的存在
,不知道有多少人能真正完成这个项目(至少我也还是有所倚耐的),每一步都不难,
但很tedious~~ 比如,我想sub-tree mutation, mutation 的 terminal 与 non-
terminal 的比例分别是 10% & 90% respectively。这个很好控制,就是概率嘛;可在
90%里,我产生non-terminal sub-tree mutation 节点的方法是先产生随机数,再根据
随机数去寻找定位那个节点(把 root 数为1),返回指向这个节点的指针,和指向该... 阅读全帖
d**********o
发帖数: 1321
43
来自主题: WebRadio版 - 潜水员冒泡兼征版友意见
第二次作业
我以为自己对这门课的戒备心到第一个项目交上去就可以平复了,可我高兴得还太早,
到了第二个项目时,subproject2a, subproject2b也都还是很简单的,可到了写最后一
个项目的时候,就赫然发现subproject2a写的copy subtree的函数prototype并不满足
最后一个小版块的要求,于是对我来说,这个项目的最后一小版块就需要从头再来(重
新再了更好用的copy函数)。
写到这个项目的最后一步,就真正体会老师基础代码的良苦用心,没有这个葫芦的存在
,不知道有多少人能真正完成这个项目(至少我也还是有所倚耐的),每一步都不难,
但很tedious~~ 比如,我想sub-tree mutation, mutation 的 terminal 与 non-
terminal 的比例分别是 10% & 90% respectively。这个很好控制,就是概率嘛;可在
90%里,我产生non-terminal sub-tree mutation 节点的方法是先产生随机数,再根据
随机数去寻找定位那个节点(把 root 数为1),返回指向这个节点的指针,和指向该... 阅读全帖
y****i
发帖数: 1265
44
【 以下文字转载自 Biology 讨论区 】
发信人: yweili (杨威利), 信区: Biology
标 题: 据说哈利波特上nature了
发信站: BBS 未名空间站 (Thu Jan 6 14:13:20 2011, 美东)
发信人: Isaiah (SKIASONARANHR), 信区: Emprise
标 题: 据说哈利波特上nature了
发信站: 水木社区 (Thu Jan 6 09:19:54 2011), 站内
http://blog.renren.com/share/225423167/4622536314
刚看了《哈利波特7上》,无聊的在PubMed里面用"Harry Potter"做关键词搜索文献,
得到32篇文献,居然还有发在Nature上的文章两篇 还有其他牛文若干篇。灰常的欢乐。
附该文章链接: http://www.ncbi.nlm.nih.gov/pubmed/16094345
以免大家以为是我胡诌。最近真是闲的蛋疼。
==========================神==作==分==割==线====================... 阅读全帖
B********e
发帖数: 19317
45
来自主题: Belief版 - 大家来学习,进化论101
http://evolution.berkeley.edu/evolibrary/article/0_0_0/evo_17
Genetic variation
Without genetic variation, some of the basic mechanisms of evolutionary
change cannot operate.
There are three primary sources of genetic variation, which we will learn
more about:
1. Mutations are changes in the DNA. A single mutation can have a large
effect, but in many cases, evolutionary change is based on the accumulation
of many mutations.
2. Gene flow is any movement of genes from one population to anoth
E*****m
发帖数: 25615
46
来自主题: Belief版 - littletshirt 的拙劣謊言 (转载)
【 以下文字转载自 TrustInJesus 讨论区 】
发信人: Eloihim (真神), 信区: TrustInJesus
标 题: littletshirt 的拙劣謊言
发信站: BBS 未名空间站 (Wed May 4 09:02:43 2011, 美东)
起因在這裡
http://www.mitbbs.com/article_t/TrustInJesus/515211.html
原來她的問題是
first, can you define "random" as implied in Darwin's theory?
random 是數學名詞, 進化論裡提到random 都是在說
random mutation, 所以我猜她要問的是 random mutation 是什麼意思,
所以回答了
“就是每一代多少跟前一代有點不同, 這也有問題嗎?”
她抓住這個說我連random 跟 mutation 有什麼差別都不知道,
以為抓住我的破綻了,一說再說。
我說 littletshirt啊! 你是真的以為我會搞不清楚一個數學名詞跟一個生物名詞
的差別? 你要是不真的這樣認為,你很惡... 阅读全帖
t*******d
发帖数: 2570
47
来自主题: Belief版 - littletshirt 的拙劣謊言 (转载)
你说的是random mutation vs. directed mutation, 是random vs. directed (guided
, designed, etc.), 不是random vs mutation.

"
belief
records
belief
D*****r
发帖数: 6791
48
来自主题: TrustInJesus版 - 基版名基名言
I am talking about Mendel's Law of segregation! Here the random
recombination is proved by the pea experiments.
The recombination of chromosome provides variations in genes which is the
raw material natural selection works on.
Mutations are also not completely random. Some mutations are more likely to
happen and more likely to be inherited. For example, insertions and
deletions can happen during replication of repeating segments of DNA.
Think about the ammount of the DNAs replicated every year. ... 阅读全帖
D*****r
发帖数: 6791
49
来自主题: TrustInJesus版 - 基版名基名言
I am talking about Mendel's Law of segregation! Here the random
recombination is proved by the pea experiments.
The recombination of chromosome provides variations in genes which is the
raw material natural selection works on.
Mutations are also not completely random. Some mutations are more likely to
happen and more likely to be inherited. For example, insertions and
deletions can happen during replication of repeating segments of DNA.
Think about the ammount of the DNAs replicated every year. ... 阅读全帖
l**********t
发帖数: 5754
50
来自主题: TrustInJesus版 - 搞笑的是基督徒总说神赐的免费礼物

Most mutations (change of the genetic encoding ) are neutral and don't lead
to phenotype change, and thus not easily observable (unless you sequence the
genome).
Whehther these lead to 先天疾病 are 很多 shall be measured as the
probability of these mutation among all mutations. And they are rare.
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