b********n
发帖数: 38600 | 1 Groundbreaking Study Reveals The Main Reason Behind Most Cases Of Cancer
http://www.businessinsider.com/r-biological-bad-luck-blamed-in-
Plain old bad luck plays a major role in determining who gets cancer and who
does not, according to researchers who found that two-thirds of cancer
incidence of various types can be blamed on random mutations and not
heredity or risky habits like smoking.
The researchers said Thursday that random DNA mutations accumulating in
various parts of the body during or... 阅读全帖 |
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p**f
发帖数: 3549 | 2 40名决赛者，有9名来自弯曲高中。尼玛弯曲老中WSN父母就是厉害。
一等奖的有三人，中间亚裔来自Harker School. He developed a way of
identifying human genome mutations and discovered more than 100 adaptive
mutations in DNA sequences, related to immune response, metabolism, brain
development and schizophrenia.
另外两个白nerd，一个来自麻州，一个来自马里兰。尼玛，亚男出现在新闻里就一定是
跟nerd联系在一起。。 |
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发帖数: 1 | 4 诺贝尔奖爆露最大丑闻，真相浮出
诺贝尔医学奖项爆露最大丑闻，把奖项给了残害无数生灵，残害人类的日本骗子科学家
。这是人类历史上最悲哀的时刻。我所有的研究都揭示癌症，老年痴呆，糖尿病现阶段
广泛地流行，是日本人几十年孜孜不倦刻意造成的，是一种人造的疾病。他们给亿万的
生灵造成了终生的痛苦，他们应该被送上反人类的法庭去审判，而不是被奖赏。他应该
被逮捕，交代日本人是用什么样的手段伤害全世界无辜的人群的，如何制造癌症，老年
痴呆，糖尿病患者的。如何通过这些人体实验，给医药公司攫取了大量的财富。今年的
获得者是Yoshinori Ohsumi. 查看了一下去年的获得者，竟然也有个日本凶手Satoshi
Omura. 他的研究更是惨不忍睹，他的一生就是罪恶的一生，不知道害死了多少无辜的
人。只有中国的获得者是无辜的，值得敬佩的，以身献身科学的。说到底，如果不是这
些可恨的美国人，日本人传播这些寄生虫，我们的科学家也不用有那么多的牺牲来攻克
这些难题。有一天，我睡在沙发上，发现有人刺进了我的鼻子里，不知道他们往我身上
注射了什么。为什么我知道，因为他们研究的这些东西都用在了我的身上，和我身边的
... 阅读全帖 |
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发帖数: 1 | 5 【Filariasis
From Wikipedia, the free encyclopedia
Filariasis
Life cycle of Wuchereria bancrofti, a parasite that causes filariasis
Classification and external resources
Specialty Infectious disease
ICD-10 B74
ICD-9-CM 125.0-125.9
Patient UK Filariasis
MeSH D005368
[edit on Wikidata]
Filariasis is a parasitic disease caused by an infection with roundworms of
the Filarioidea type.[1] These are spread by blood-feeding black flies and
mosquitoes. This disease belongs to the group of d... 阅读全帖 |
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发帖数: 1 | 6 12月28日 仔细阅读以下文章
或许这些文章可以告诉你们孩子被伤害病毒的答案。
Astellas Pharma 应该和这些人体实验有莫大的关系！
Founded 2005; 11 years ago
Headquarters 2-5-1, Nihonbashi-Honcho, Chūō-ku, Tokyo 103-8411, Japan
Key people Yoshihiko Katakana
(President and CEO)
Filariasis
From Wikipedia, the free encyclopedia
Filariasis
Life cycle of Wuchereria bancrofti, a parasite that causes filariasis
Classification and external resources
Specialty Infectious disease
ICD-10 B74
ICD-9-CM 125.0-125.9
Patient UK Filariasis
MeSH ... 阅读全帖 |
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s*****r
发帖数: 11545 | 7 ???????
A special group of Chinese has a genetic mutation making them endure the
lack of oxygen. Such capability might contribute to the victory of long
March, which happened to follow the same route used by ancient Chinese Kings
to conquer China. The mutation can be tracked back to an extincted human
group originated in middle Western Asia.
: 为什么看起来满篇都是汉字
: 连起来却读不懂。。。
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s******y
发帖数: 28562 | 8
这个其实正是那个文章的疑点之一。在那个文章里，发现大陆几乎一半的肝癌样品里有
疑似马兜铃酸引起的mutation pattern。但是这个其实是一个相关性数据而不是成因数
据。这个其实可以有两种解释，一个解释就是马兜铃酸能引起肝癌，另外一个解释就是
那些有肝癌的人由于某些共同原因都接触过马兜铃酸。
如果马兜铃酸是直接成因的话，那么一个非常明显的推断就是大陆的肝癌比例应该比其
他地区大大高出很多，因为大陆的使用中草药比其地区都多，而且因为大陆几乎一半的
肝癌样品里有疑似马兜铃酸引起的mutation pattern。但是事实并不是这样，大陆的肝
癌比例虽然比较高，但却远远不是最高的。世界上肝癌比例最高的是蒙古（是中国大陆
的四倍），然后是老挝，Gambia, 埃及，越南，南朝鲜，泰国这些地方。中国连前5都
不入。实际上肝癌的发病率和该地区的肝炎发病率几乎就是成正比的，和用不用中药倒
是看不出什么关系。
在这个角度看来，文章的作者其实不能排除另外一种可能性，那就是大陆几乎一半的肝
癌患者都由于各种原因服用过含有马兜铃酸的中药。这个其实可能性很高。首先是肝癌
患者大部分都是由肝炎患者发展来... 阅读全帖 |
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x****6
发帖数: 4339 | 9 HIV比流感病毒的突变率高出不止一个数量级；流感传播广主要还是传播途径导致。要
是HIV也是空气传播，人类人口至少少两个零。
并且HIV除了点突变，也可以重组，发生在同一个细胞里的不同病毒DNA之间。
流感
“A total of 813,663 nucleotides were sequenced, giving rates of 2.0 × 10&#
8722;6 and 0.6 × 10−6 mutations per site per infectious cycle”
http://jvi.asm.org/content/80/7/3675.full
HIV
" This reveals an extremely high mutation rate of (4.1 ± 1.7) × 10-3 per
base per cell, the highest reported for any biological entity"
https://www.ncbi.nlm.nih.gov/pubmed/26375597 |
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d********r
发帖数: 1238 | 10 就是美国的院士啊，工程院或者是科学院都行，已经有中国人拿到了，没有中共的宣传
机器强大而已
Wei Yang is a member of both the National Academy of Sciences and the
American Academy of Arts and Sciences, and she was elected a fellow of the
American Association for the Advancement of Science. Her research applies
diverse and cutting-edge molecular techniques to understand how mutations
occur and how cells normally repair these mutations — and how these repairs
fail in specific cancer syndromes. Her work has illuminated the molecular
basis for s... 阅读全帖 |
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发帖数: 1 | 11 前面说到生物学，进化论立即就可以突破的。
但我只完成了第一部分，就写不太下去了。还是太专业、太花时间。
顺便说一下，一共应该三部分，破的部分、立的部分、实验部分。。。
I
Darwin's Theory, by which Biological Evolutions are pure spontaneous
processes of the matter world without any "design" or intentional
intervention, is nowadays officially written into textbooks.
A key point, according to this theory, is that genetic mutations are
randomly occurred and non-directional.
Yet it has been under heavy controversies throughout the history, and faces
logical dilemmas especially as rec... 阅读全帖 |
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b*******s
发帖数: 1919 | 12 greygene，这是主贴里内容的英文版本（与中文的不完全一致）。
另外本来应该有三部分，破的部分、立的部分、实验部分。。。
我只完成了第一部分，就写不太下去了。还是太专业、太花时间。
I
Darwin's Theory, by which Biological Evolutions are pure spontaneous
processes of the matter world without any "design" or intentional
intervention, is nowadays officially written into textbooks.
A key point, according to this theory, is that genetic mutations are
randomly occurred and non-directional.
Yet it has been under heavy controversies throughout the history, and faces
logical dilemmas especial... 阅读全帖 |
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S*******l
发帖数: 4637 | 13 对，其实CCR5在免疫调控中的作用还很不清楚。
北欧人10% 有CCR5 mutation没问题，可能是有其他基因变异补偿。是很大的进化选择
压力下的结果。
这两个女孩子是亚洲人，这个人群里CCR5 mutation很低。她们这个基因敲掉，将来也
许会有免疫功能的问题，比如对抗病毒细菌感染免疫激活效率不够。 |
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发帖数: 1 | 14 CRISPR babies: the Chinese government may have known more than it let on
When scientist He Jiankui announced he’d conducted an experiment that led
to the birth of twin girls with CRISPR-edited genomes in November, the
international scientific community swiftly condemned him. In the uproar that
followed, the Chinese government, He’s university, and the hospital where
the babies were born distanced themselves from the researcher, who claimed
he was the first scientist known to use CRISPR to edit h... 阅读全帖 |
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D****8
发帖数: 408 | 15 你真的快蠢到不行了
人体细胞，大部分真核细胞DNA复制有随机错误，但更重要的是真核细胞有纠错机制，
叫proofreading
RNA viruses reproduce less accurately. They usually lack proofreading or
have attenuated proofreading ability, and have the highest mutation rates of
any organisms on Earth. These mutation rates mean that a large complex
genome is not possible because their high error rates would cause offspring
requiring a large gene set to be nonfunctional.
DNA |
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发帖数: 1 | 16 有了PRRA 基本可以排除实验室泄露可能被排除，可以转守围攻了
"There are also documented instances of the laboratory acquisition of SARS-
CoV-1 by laboratory personnel working under BSL-2 containment29,30. We must
therefore consider the possibility of a deliberate or inadvertent release of
SARS-CoV-2. In theory, it is possible that SARS-CoV-2 acquired the observed
RBD mutations site during adaptation to passage in cell culture, as has
been observed in studies with SARS-CoV5 as well as MERS-CoV31. However, the
acquisition of ... 阅读全帖 |
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k**********4
发帖数: 16092 | 17 坚持人工重组的人不停地重复说自然发生重组是不可能的，其实这个说法完全是不正确
的，不是自己不懂就是想忽悠吃瓜群众。凡是有一点病毒学，微生物学或者医学常识的
人都知道，病毒是很狡猾的，为了“生存”会不断地进行着“改头换面”，而这种改变
就是通过重组和突变来进行的，不信你看看我从一<医用微生物学>教科书里面抄来的一
段话吧
“Viruses are continuously changing as a result of genetic selection. They
undergo subtle genetic changes through mutation and major genetic changes
through recombination. Mutation occurs when an error is incorporated in the
viral genome. Recombination occurs when coinfecting viruses exchange genetic
information, creating a novel virus.”
... 阅读全帖 |
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c****3
发帖数: 10787 | 18 Researchers who have examined the genomes of two coronavirus infections in
Washington State say the similarities between the cases suggest that the
virus may have been spreading in the state for weeks.
Washington had the United States’ first confirmed case of coronavirus,
announced by the Centers for Disease Control and Prevention on Jan. 20.
Based on an analysis of the virus’s genetic sequence, another case that
surfaced in the state and was announced on Friday probably was descended
from that ... 阅读全帖 |
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k**********4
发帖数: 16092 | 19 1. We know what it is
The first cases of AIDS were described in June 1981 and it took more than
two years to identify the virus (HIV) causing the disease. With COVID-19,
the first cases of severe pneumonia were reported in China on December 31,
2019 and by January 7 the virus had already been identified. The genome was
available on day 10. We already know that it is a new coronavirus from group
2B, of the same family as the SARS, which we have called SARSCoV2. The
disease is called COVID-19. It ... 阅读全帖 |
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t******l
发帖数: 10908 | 20 我觉得还是选材问题了，当代女排需要身高加爆发力。。。黄种人平均身高确实低一些
，两条 ACTN3 都没有 mutated 的爆发力型也比白人少一半多。。。两者皆有的更少
。。。但中国这么一个大国，也不至于凑不出满足条件的几个女排主攻手。。。这选材
体系可能还是有问题。
这不完全是蛋白粉的问题，要是两条 ACTN3 都 mutated，那把蛋白粉当水喝也不顶事。
：还真不是，当年没有自由人，国内人身材高大的超过185的很少有力量和灵活性超强的
：，好不容易有个肖建华，又被查出有病。。。 |
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t******l
发帖数: 10908 | 21 其实有一个不太好衡量统计的，就是在美帝的 “举国皆为少体校体制” 里，除了参与
者的数目以外，参与者的苦鼻度如何。。。也就是真的很想赢呢？还是主要目的就是
show 长白腿，但上来直接被淘汰的话，那也没机会露一小脸不是？稍微练练，有露小
脸机会就知足了的那种。
但还是有一个有点意思的统计数据。。。是统计田径速度项目里，运动员（不含校际烧
烤大会型运动员）里，两条 ACTN3 都没有 mutate 的比例。。。数据好像是女运动员
是 90% 两条 ACTN3 都没有 mutate，但男运动员是 55% 。。。差别很大。
当然论文就不能再做牵强解释了。。。我个人目测可能是两个因子，第一男运动员肌肉
比例高，基数大了速度肌总量总是高一些。。。但我觉得政治不正确的猜测，我觉得跟
苦鼻狠练型的比例，以及愿意吃多少 non-organic 蛋白粉的比例，可能也有一定的关
系。。。
：你这个是假设欧美男女对竞技体育的参与度是一样的。 |
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m******1
发帖数: 19713 | 22 Expanding on previous research providing proof-of-principle that human stem
cells can be genetically engineered into HIV-fighting cells, a team of UCLA
researchers has now demonstrated that these cells can actually attack HIV-
infected cells in a living organism.
The study, published April 12 in the journal PLoS Pathogens, demonstrates
for the first time that engineering stem cells to form immune cells that
target HIV is effective in suppressing the virus in living tissues in an
animal model, sa... 阅读全帖 |
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发帖数: 1 | 24 哦，你是说function test. 就研究本身是把所有的mutations都考虑了，只是
Most of the mutations created either silent or conservative changes in the
predicted amino acid sequence。所以没有必要test。 |
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t**x
发帖数: 20965 | 25 大多数情况下你健康就不允许。就算能有机会，人家也知道十有八九医疗事故，不愿意
涉及。 给大家看看荷兰研究人员的回复：
现在说说荷兰研究人员dr. wanders
https://www.amc.nl/web/Research/Who-is-Who-in-Research/Who-is-Who-in-
Research.htm?p=6
Dear Mrs. Yong Xie,
Thank you for your response.
It is remarkable that the results of the CACT and CPT2 assays have come back
normal especially since the acylcarnitine profile is really very suggestive
for CACT or CPT2 deficiency. Having said so I do know the people at Case
Western and they really do a good job which leaves little... 阅读全帖 |
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t**x
发帖数: 20965 | 26 请你仔细看看，
良性的三个报告。其中一个是这个德国医生自己的，他承认自己从来没有看过。第一个
genedx，是我们出院(04/13)后一个月报的(05/13)， 这个极有可能就是我们宝宝的结
果，被报呈良性。
https://www.ncbi.nlm.nih.gov/clinvar/variation/92429/
这个变异发现10多年，欧洲基因库收录为恶性。只有美国报称良性，在我们宝宝刚刚出
院。你真得仔细看看时间和事情了。
你没有看到跨国界作假反而。。。你看看荷兰医生的回信。我真怀疑你到底是干什么的
？
这个变异发现了10多年了， 这个德国医生的链接的文献没有说是良性的， 你自己看看
下面德国医生附上的文献。我不是医生，我看不出来说这个变异是良性的。你如果愿意
看看我家宝宝cpt2的两个结果， 一个1.5%酶活性，一个15%酶活性，跟下面的温度相关
吻合得多好。
我家宝宝的下降更多，大概是因为他的变异更多。这个特征的变异很多年了，但是
cchmc和Baylor都没有查出来。你说说他们不知道？！
Here the excerpt von OMIM regarding this mut... 阅读全帖 |
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t******r
发帖数: 8600 | 27 【 以下文字转载自 Stock 讨论区 】
发信人: mutate (mutate), 信区: Stock
标 题: 悲催的老实男人们 ZT
发信站: BBS 未名空间站 (Tue Nov 12 16:43:57 2013, 美东)
干了几年新生儿科医生，开始的时候天真的以为，见到的都是那些刚出生的天真无邪的
小BABY，天天肯定欢乐无比。
干了这么几年才发现，我还是图样图森破，BABY父母的那些事还真是让人纠结，本
吊不是高帅富，好歹有个女神护着，但现在都快有心理阴影了，发几贴发泄一下，说说
平常不敢说的事。
本吊在ICU工作，就是刚出生的有问题的BABY或者有潜在问题的BABY都要送进来护
着，封闭的科室，家长嘛，就在窗口办个手续，我们在窗口问病史不免要问到很多私人
的东西，就是这样的过程就够斗智斗勇的了。
首先问你老婆孕几产几啊？（妈妈刚生完，一般都是爸爸来办手续），很多人都肯
定的回答“第一次怀孕，第一个小孩”。哎，其实你缴费前我就看过产科病例了，孕3
产1，你老婆之前打过2次，你不知道吧，当然我是在心里说得。。。你问我为什么产科
知道，因为一般女人发现自己怀孕都是刚开始的时... 阅读全帖 |
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m**q
发帖数: 189 | 28 考古到了这个，Q2的话，感觉直接permutation就行了啊，
只需要string本身的长度加上mutation rules的长度，
貌似比BFS简单些。
[Coding Q2]: You are given a string e.g."face" and a set of mutation rules,e
.g. a->@, e->3, e-E. Print all the possible strings that can be generated by
the rules, e.g. f@c3, fac3, etc.
其实就是BFS再加上hash table判断是否重复print。马上就想到algorithm，面试官说
好，你开始写吧。然后问题就来了，太久没写c++忘了hash table的函数定义。好像依
稀记得hash table还有几个版本，想了一会没想起来，又不好意思问，汗！最后还是忍
不住问了，他说你随便给个函数名和接口吧。最后磕磕碰碰总算把程序写完了，却给人
留下了很不好的印象，感觉写程序很不熟！据说最后这个人给了我一个borderline，还
算好，没把我fail... 阅读全帖 |
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z***e
发帖数: 5393 | 29 来自主题: JobHunting版 - 矩阵变换题 my understanding is it's the same as the "word ladder" problem: giving A and
B and some mutation rules, find out the min mutations from A=>B.
so a straightforward solution is to use BFS to find the shortest path from A
=>B.
Unfortunately, the bfs is a "general" solution, but not the best. wonder if
there is better solution for this particular question.
. |
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f*******b
发帖数: 520 | 30 最近刚开始练习用java做题，突然发现其没有pass parameters by reference，比如C#
里的 ref 功能
比如
Object o = "Hello";
mutate(o);
System.out.println(o);
private void mutate(Object o)
{
o = "Goodbye";
}
结果是显示"Hello",怎样让其显示"Goodbye"呀？ |
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g**G
发帖数: 767 | 31 你一开始声明了一个string hello, 然后声明了o，这个o是一个object的引用，这个引
用指向hello这个string
然后调用mutate，传进去的其实是o这个引用地址的一个copy
你无论在nutate里如何操作这个引用地址，函数外的o的引用还是不会变，始终指向
hello
你没法通过函数改这个
因为string是immutable的
如果o指向的不是string是一个你自定义的类
那么你在mutate里改o本身的内容，是可以反映出来的 |
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g*****g
发帖数: 34805 | 32 没一个说到点子上。一个return，这个世界清静了。没有side effect的方法其实更方
便。而且可以串起来写。可以少定义很多临时变量。
Object o = "Hello";
o=mutate(o);
System.out.println(o);
private Object mutate(Object o)
{
o = "Goodbye";
return o;
} |
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l*****n
发帖数: 1064 | 33 朋友请我荐人的:
Candidates are expected to be well versed in molecular biology or
biochemistry. In addition, candidates should be familiar with gene cloning
techniques as well as some protein analysis methods including protein
extraction and western blot. Knowing some gene modification techniques (
such as site-direct mutagenesis, insertion mutation, deletion mutation) and
expression protocol of recombination protein in bacteria and fungi is highly
desired. Experience in protein structure and propert |
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z**********e
发帖数: 22064 | 34 【 以下文字转载自 Military 讨论区 】
发信人: theboxer (boxer), 信区: Military
标 题: 悲催的老实男人们 ZT (转载)
发信站: BBS 未名空间站 (Tue Nov 12 19:38:51 2013, 美东)
发信人: mutate (mutate), 信区: Stock
标 题: 悲催的老实男人们 ZT
发信站: BBS 未名空间站 (Tue Nov 12 16:43:57 2013, 美东)
干了几年新生儿科医生，开始的时候天真的以为，见到的都是那些刚出生的天真无邪的
小BABY，天天肯定欢乐无比。
干了这么几年才发现，我还是图样图森破，BABY父母的那些事还真是让人纠结，本
吊不是高帅富，好歹有个女神护着，但现在都快有心理阴影了，发几贴发泄一下，说说
平常不敢说的事。
本吊在ICU工作，就是刚出生的有问题的BABY或者有潜在问题的BABY都要送进来护
着，封闭的科室，家长嘛，就在窗口办个手续，我们在窗口问病史不免要问到很多私人
的东西，就是这样的过程就够斗智斗勇的了。
首先问你老婆孕几产几啊？（妈妈刚生完，一般都是爸爸来办手续）... 阅读全帖 |
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G***G
发帖数: 16778 | 35 mutated?
can it be mutated to be better? |
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l**x
发帖数: 296 | 36 It sounds like your family carry the BRCA mutation.
In this scenario, especially with calcifications, the benefit of having
mammogram outweighs the risk.
If you want to confirm, you could have your gene tested for the BRCA1 or 2
mutations. |
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g*****j
发帖数: 1211 | 37 I think it is early to say you have BRCA mutation. After all, it is not
very common in patients with breast cancer. It is not a bad idea to have
genetic testing though, if there is family history of early breast or ovary
cancer. If god forbid, you do carry BRCA mutation, breast and ovary removal
with breast reconstruction is an option to end the worry, especially if you
do not expect to be pregnant. |
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I****a
发帖数: 407 | 38 Some of the unique points of this particular lung cancer are:
1. It is EGFR mutation positive now likely has gained the resistance
mechanism.
2. The majority of the metastasis are in brain (not surprising) and bones.
So following cookie cutting algorithm may not be the optimal way to go.
There is nothing wrong to give him platinum doublet although I favor Alimta
in the doublet given the result from PARAMOUNT data and it is probably more
reasonable in my opinion to start with 1 agent given his pr... 阅读全帖 |
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f****o
发帖数: 2770 | 39 honestly, i don't know what to tell you. i am sure you know at stage IV,
there is not much we can do.
If the cancer cell has specific mutation, there are erlotinib/gefitinib and
crizotinib that are targted therapy. Only if your relative has those
specific mutation. Those meds are expensive and only prolong survival. There
is no cure for stage IV lung cancer. 5 year survival is only 1-2%
realistic speaking, your relative should do whatever he/she wants to do
while still alive
palliative care/symp... 阅读全帖 |
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M****0
发帖数: 877 | 40 今天有点空，用ld的ID上来帮你分析一下。
First, you need to know the stage (as you mentioned your uncle has
adenocarcinoma which belongs to non-small cell lung cancer. If is small cell
lung cancer, it will be a different story). For most of stage I and II,
even some IIIA, the intent for treatment is cure.
If your uncle's lung cancer is just 2.5 cm and no metastases, then his
cancer is stage IA. This stage can be cured with surgery only, followed by
imagine surveillance. But he does not need an abdominal ultrasound... 阅读全帖 |
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M****0
发帖数: 877 | 41 今天有点空，用ld的ID上来帮你分析一下。
First, you need to know the stage (as you mentioned your uncle has
adenocarcinoma which belongs to non-small cell lung cancer. If is small cell
lung cancer, it will be a different story). For most of stage I and II,
even some IIIA, the intent for treatment is cure.
If your uncle's lung cancer is just 2.5 cm and no metastases, then his
cancer is stage IA. This stage can be cured with surgery only, followed by
imagine surveillance. But he does not need an abdominal ultrasound... 阅读全帖 |
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j****d
发帖数: 123 | 42 我现在在达拉斯读书，今年父亲突然查出右肺下叶中分化腺癌，淋巴转移性癌（1/13)
（不明白是什么意思） 癌症分期是：T3 N1 MO III期， 已经在北京中国科学院肿
瘤医院做过手术。
今年的03月27号做了第一次化疗，用的是培美曲塞+卡铂， 现在转氨酶值高医生不让做
第二次化疗，要打针把转氨酶减下来才可以做第二次化疗。
已经做过基因检测显示为基因突变
alimta and carboplatin are 2 relatively mild chemo agents, if he can't even
tolerate these, no more chemo in his lifetime. You did not say what gene
mutated, but hinted below, it was EGFR
请问大家由于化疗后父亲感到身体十分难受，能不能不再做化疗,直接改用靶向药物如
特罗凯，易瑞沙等。
of course OK, Tarceva and Irissa are first-line drugs for EGFR-mutated LC
如果他来美国在... 阅读全帖 |
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b********t
发帖数: 5261 | 46 The androgen receptor gene that is mutated in Kennedy's disease is located
on the X chromosome, and the effects of the mutation may be androgen-
dependent, thus only males are fully affected. Females are rarely affected;
female carriers tend to have a relatively mild expression of the disease if
they show symptoms at all.
是不是女孩得病的机会比较小？症状小。 |
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z***q
发帖数: 175 | 47 Amniocentesis analysis can only check the karyotype of fetus. It can only
diagnose aneuploidy like tri18, tri21,tr13,Tunner syndrom(45,X0),Klinefelter
syndrome(47,XXY), and some large chromosomal abnormalities. There are tons
of genetics disease out there that can not be diagnosed by amnio because the
disease-causing mutations are too small to be detected only by karotype
analysis, for example, single nucleotide mutation, small deletion and
duplication, gene copy number variations etc.
So, norma |
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v********g
发帖数: 25 | 48 This is not true. Preimplantation genetic diagnosis can detect the
fertilized egg's (8 cell blastocyst stage) mutation if the mother's mutation is
known. The turnaround time is fast enough for a Pregnancy. This is being
routinely done. |
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c**i
发帖数: 6973 | 49 (1) Short of waiting until birth, cytogenetics or chromosome banding is quite
definitive.
Amniocentesis is required to obtain cells from the fetus. There is risk for
the procedure.
Also, a study with fetal cells may fail, just like any other study/
experiment. In early 1990s, I asked and obtained permission from the
cytogenetics chief at Massachusetts General Hostial to observe. He was doing
the fluorescent in situ hybridization (FISH) to see if the fetus was male
or female; the parents carried... 阅读全帖 |
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s*******9
发帖数: 177 | 50 高龄产妇， 二胎，等明年生产时已经39了.先做了maternity T21 plus正常。觉得不放
心，在18周时做了一个羊穿，自己掏腰包加选了microarray （这个查得更细，不加选
这个就是普通的羊穿， 心想既然反正做羊穿要扎一针的， 还不如就这个机会做的全面
一些）。 普通的羊穿结果没问题，但是microarray 发现了8号染色体
上多了一小块（8p23.1), 大小大约0.73Mb。
下面是报告的原文， 觉得写的有点模糊：
No diagnostic copy number were observed, however, one variant of uncertain
significance was identified: a heterozygous copy number gain of 0.73 Mb on
8p23.1 (10,875, 772-11,603,171): MIR598,XKR6,MTMR9,SLC35G5,TDH,C8orf12,
FAM167A,BLK,LINC00208, GATA4 (partial).
This region has n... 阅读全帖 |
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