a***e
发帖数: 1010 | 1 If knocking-out of gene A induces a LOF phenotype in a certain mouse
strain
and adding back A rescues that LOF phenotype, we argue that gene A is
involved in generating this phenotype.
However, if there are no LOF phenotype when gene A is similarly knocked
out
in other mice strains, it is very possible that there are additional
molecular events involved in this phenotype generation.
|
|
c*t
发帖数: 1063 | 2 怎么确定Genotype-phenotype correlation？
显示特定phenotype的knockout mice 在换了background之后却失去了phenotype，是不
是能够证明原来的推断不是那么可靠？
如果再换一个别的background还是没有phenotype呢？能说明什么？
欢迎前辈解答.
谢谢!! |
|
p****r
发帖数: 104 | 3 【 以下文字转载自 Biology 讨论区 】
发信人: poster (第二性征), 信区: Biology
标 题: New exciting research! Prediction of quantitative phenotyp
关键字: prediction,phenotype,genetic network
发信站: BBS 未名空间站 (Mon Sep 13 21:03:04 2010, 美东)
A group of UCSD researchers have just provided an approach to make
prediction
of phenotypes of an organism from genetic networks. The method does not rely
on
any training data and can be based on literature curated or computationally
predicted networks. The method seems to be very easy to i |
|
p*****n
发帖数: 981 | 4 ☆─────────────────────────────────────☆
wonderlich (左岸，遁去) 于 (Sat Dec 30 04:42:34 2006) 提到:
帮LP问个问题。。。谢谢。。。
☆─────────────────────────────────────☆
sinister (@_@) 于 (Sat Dec 30 05:55:45 2006) 提到:
你的问题不清楚？你要看什么phenotype? 还是细胞形状大小？
☆─────────────────────────────────────☆
wonderlich (左岸，遁去) 于 (Sat Dec 30 06:00:53 2006) 提到:
贴壁的cell在flask里面attach在flask底部,
用显微镜就可以看了，容易聚焦，
假如悬浮的话，怎么看呢？
我说的Phenotype就是很基本的比如形状、大小，是否健康之类。。。
☆─────────────────────────────────────☆
sinister (@_@) 于 (Sat |
|
a***e
发帖数: 1010 | 5 An alternative way examining the genotype-phenotype relationship is to test
whether several independent animal strains harbor different mutations in the
same gene and elicit similar phenotypes. |
|
p*****n
发帖数: 981 | 6 ☆─────────────────────────────────────☆
steedwang (Postpone Fever) 于 (Mon Jan 29 14:50:42 2007) 提到:
有没有这样的database，根据phenotype搜索可以查询gene,根据gene搜索也可以查询
pheonotype的？
☆─────────────────────────────────────☆
FangZhouzi (SB肘子) 于 (Mon Jan 29 15:05:35 2007) 提到:
yes,
infomratics.jax.org
☆─────────────────────────────────────☆
steedwang (Postpone Fever) 于 (Mon Jan 29 15:20:26 2007) 提到:
Thx a lot.
☆─────────────────────────────────────☆
honestman (snail) 于 (Mon Jan 29 18:37:20 2007) 提 |
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c*t
发帖数: 1063 | 7 Thanks for the reply.
How to rescue the LOF phenotype in the knockout mice? |
|
a***e
发帖数: 1010 | 8 you can create a transgene that overexpresses the gene A which you are
interested, integrate this transgene into your konck-out mice by
conventional techniques, and examine whether this transgene rescues the
LOF phenotype.
BTW, nearly all of the publications don't have this rescue assay, hinting rescue is an unnecessary experiment. |
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p*****6
发帖数: 55 | 9 有过。回交几代后就没有这种现象,应该是和genetic background有关。开始还以为什
么phenotype. |
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w***x
发帖数: 265 | 10 大家好，俺刚从国内来，在某普通学校念phd。
俺们实验室做worm的，主要用whole-genome RNAi + 高通量whole-animal imaging做
quantitative epistasis networks。
老板试图说服我这是个有前途的方向。不过我觉得因为技术所限，现在通过imaging能
很好地quantify的phenotype大多很简单。。。稍微复杂一点的就很难做到whole-
genome了，离高通量还很远。
类似的技术在yeast里比较成熟了。2010年有篇science文章"The genetic landscape
of a cell"算是集大成了吧。
于是想听听大家对此类技术的看法~ |
|
s******y
发帖数: 28562 | 11 你老板的眼光还不错。
不过，imaging analysis 会是瓶颈，而且很多虫虫的phenotype 是行为异常，
用静止照片看不出来，用video 则技术上跟不上。
你们要做这个的话，必须有很强的图像处理实验室来和你们合作。 |
|
w***x
发帖数: 265 | 12 的确是这样啊。我老板目前开始上手的都是从静止照片就能看出来的phenotype。将来
想做behavior方面的就很麻烦了。
现在虽然有人搞了multiple worm tracker，能跟踪的虫虫数量却很有限。
我想一方面是需要image analysis，一方面得在拍摄方式上想点新着。。。
所以一来就和博后被派去上computer vision课了orz |
|
|
m******5
发帖数: 1383 | 14 最近觉得这个东西太好玩了
spontaneously differentiate出很多东西,如果能够合适地score某些phenotype，比如
beating rate of myocadiocyte，mES本身genetic manipulation又很容易（比如大规
模trap, 通过stable transfect搞新的allelle上去)，似乎能像xenoupus一样筛出许多
和早期发育有关的基因。 更妙的是，可以是人(ips)和老鼠(mES) |
|
i*********0
发帖数: 915 | 15 EB 是好东西,关键是plate的每个EB都不一样,有的还没有分化,有的分化很完全了,倒时
候你看啥phenotype. |
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u*********1
发帖数: 2518 | 16 楼主，对于CNV，simply forget it
貌似只有DGV是比较靠谱的NIH-sponsor的数据库，但我从来不会用，也不知道怎么用。
你别说CNV-phenotype了，就连CNV本身就没啥靠谱的数据库。
或者说的更明白点，以目前的sequencing技术条件和后期数据处理，CNV
identification和validation几乎不可信。主要是sequencing reads太短，而CNV（包
括copy number variation，del，dup，inv，translocation等等）根本无法通过这么
短的reads被identify。。。其实别说CNV了，就连2bp的indel都很困难，因为比如
intron-exon boundary有时候会有一连串的TTTTTT，那么你要确定到底是多了两个T，
还是少了两个T，是很困难的。
1000 genome project目前有indel和large deletion的database。1000G最后present出
来的indel/deletion我是比较相信的，但问题是他们present出来的只是genome里... 阅读全帖 |
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a*****t
发帖数: 81 | 17 For clinical diagnostics, ISCA and DECIPHER are two popular used CNV
database for references. ISCA categorizes CNVs into pathogenic, likely
pathogenic, benign, likely benign, and uncertain types. Due to clinical
validations in deposition data into ISCA, it has fewer CNVs than other
database.
For CNV-phenotype information, you can also use Online Mendelian Inheritance
in Man, which collects information of human genes and genetic disorders.
You can simply download the list of disorders, OMIM numbe... 阅读全帖 |
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a*****t
发帖数: 81 | 18 Karyotyping can detect aberrant regions larger than 5MB. aCGH has much
better sensitivity in smaller microdeletion/microduplications than
karyotyping. For CNV larger than 300kb (ACMG recommendations for clinical
reports), false positive rate is pretty low.
On the contrary of your example, autism is a very well studied disorder in
aspect of genotype phenotype correlation. De novo CNV strategy is more
frequently used in CNVs with unknown of clinical significance.
schizophrenia
control
artifact |
|
m******t
发帖数: 109 | 19 大家有没有发现inbred mice很容易失掉phenotype 怎么解决呢 和WT CROSS 一下? |
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l***y
发帖数: 4671 | 20 举个例子：
细胞中，50% 大致是一种 phenotype A，另外 50% 呈不同的 20 几种 phenotype，其
中占总 population 的 3% 的一种 phenotype R 会对 drug D 产生抗药性。所以如果
直接做 microarray，基本上看不到这种 phenotype R 的特征。
把 phenotype A 分离出来培养几天后，发现只有 50% 的新细胞依然属于 A，同时发现
有 3% 属于 phenotype R。换句话说，这几种 phenotype 在 in situ 条件下会自发形
成稳定比例。
这在 cancer cell 中挺常见的，也是支持 cancer stem cell 的 hypothesis 的一个
依据。
把 phenotype R 分离出来给药，发现其抗药性丧失。只有跟剩下的细胞 co-culture，
R 才会呈现抗药性。也就是所谓的 niche/micro-environments 的影响。
需要做一些 k/d 来验证机理，然后做关键 protein 的 reporter 来 in vivo 地在
single cell... 阅读全帖 |
|
l***y
发帖数: 4671 | 21 举个例子：
细胞中，50% 大致是一种 phenotype A，另外 50% 呈不同的 20 几种 phenotype，其
中占总 population 的 3% 的一种 phenotype R 会对 drug D 产生抗药性。所以如果
直接做 microarray，基本上看不到这种 phenotype R 的特征。
把 phenotype A 分离出来培养几天后，发现只有 50% 的新细胞依然属于 A，同时发现
有 3% 属于 phenotype R。换句话说，这几种 phenotype 在 in situ 条件下会自发形
成稳定比例。
这在 cancer cell 中挺常见的，也是支持 cancer stem cell 的 hypothesis 的一个
依据。
把 phenotype R 分离出来给药，发现其抗药性丧失。只有跟剩下的细胞 co-culture，
R 才会呈现抗药性。也就是所谓的 niche/micro-environments 的影响。
需要做一些 k/d 来验证机理，然后做关键 protein 的 reporter 来 in vivo 地在
single cell... 阅读全帖 |
|
T****i
发帖数: 15191 | 22 新技术作为技术储备到花钱不多，但只要用起来，就收不住了，铺开来，有多少钱也能
花光。
另外，不是所有的技术都有必要实现。技术不成熟的时候，完全可以等待未来更成熟的
技术再大规模铺开应用。而现实是，往往一个新技术出来，大规模应用就开始了。比如
，做酵母的同学都知道yeast knockout collections （YKO)。当时做的时候，就没引
入loxP sites，就大规模做了。用YKO strains 做double KO 就不方便。现在用zinc
finger nuclease技术做knockout mice，其实也有很多问题，但也开始大规模铺开了。
希望Sigma没从NIH拿钱做这个。
发生这种有技术马上就大规模上马的原因，主要是个人和小集团利益。有新技术，就有
忽悠钱的机会。而且，大规模做，自己5年的funding就有保障了。而且肯定能产生结果
。至于有没有用，那也肯定有的，作为工具。
还有，对技术应用能解决多少问题，事先的评估是很不够的。基本就听申请人瞎吹。讲
个例子，无论是传统的SNP／haplotype mapping，还是新一些的arrays，还是最新的
Next... 阅读全帖 |
|
T****i
发帖数: 15191 | 23 新技术作为技术储备到花钱不多，但只要用起来，就收不住了，铺开来，有多少钱也能
花光。
另外，不是所有的技术都有必要实现。技术不成熟的时候，完全可以等待未来更成熟的
技术再大规模铺开应用。而现实是，往往一个新技术出来，大规模应用就开始了。比如
，做酵母的同学都知道yeast knockout collections （YKO)。当时做的时候，就没引
入loxP sites，就大规模做了。用YKO strains 做double KO 就不方便。现在用zinc
finger nuclease技术做knockout mice，其实也有很多问题，但也开始大规模铺开了。
希望Sigma没从NIH拿钱做这个。
发生这种有技术马上就大规模上马的原因，主要是个人和小集团利益。有新技术，就有
忽悠钱的机会。而且，大规模做，自己5年的funding就有保障了。而且肯定能产生结果
。至于有没有用，那也肯定有的，作为工具。
还有，对技术应用能解决多少问题，事先的评估是很不够的。基本就听申请人瞎吹。讲
个例子，无论是传统的SNP／haplotype mapping，还是新一些的arrays，还是最新的
Next... 阅读全帖 |
|
r*******y
发帖数: 48 | 24 mouse genetic background is critical if you did not see a phenotype as
expected and you believed that the genetic modifier(s) with the mixed
background affected the phenotypic penetrance/expressivity. In this case,
you will need to have a knockout model with a pure genetic background to
prove that this gene is important for certain heart disease, because you see
a (severe) cardiac phenotype in mice with pure genetic background.
In your case however, since you already observed a severe cardiac ph... 阅读全帖 |
|
t******n
发帖数: 2939 | 25 ☆─────────────────────────────────────☆
zongheimun (菲菲) 于 (Thu May 23 14:47:02 2013, 美东) 提到:
以前生物课学过 AB和O型只可能生出A或B
但孩子是O型血是什么原因？有谁遇到过吗？谁是学医或者生物的 给解释一下？谢谢
（确定是亲生的，也没抱错）
☆─────────────────────────────────────☆
bigjoker (Awesome & Handsome) 于 (Thu May 23 14:52:26 2013, 美东) 提到:
是O型的亲生的,不是AB亲生的
☆─────────────────────────────────────☆
zongheimun (菲菲) 于 (Thu May 23 14:53:12 2013, 美东) 提到:
父母都是亲生的
☆─────────────────────────────────────☆
bigjoker (Awesome & Handsome) 于 (Thu May 23 14:5... 阅读全帖 |
|
l**********1
发帖数: 5204 | 26 please go to
//evol.mcmaster.ca/cgi-bin/my_wrap/brian/evoldir/PostDocs/
then search web with key word:
Droso
match three
then click just one:
Postdoctoral Researcher in Drosophila Evolutionary Genomics
Potential start dates are between April 1 and July 1, 2012. Please
indicate the earliest start date you would consider.
Feel free to contact me with any questions (jpool (at) wisc.edu).
John Pool
Assistant Professor
Laboratory of Genetics
University of Wisconsin-Madison
jpool (at )wisc.edu
----
A... 阅读全帖 |
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l****y
发帖数: 486 | 27 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 |
|
发帖数: 1 | 28
Download pdf published by SfN (Chapter from 'The History of Neuroscience in
Autobiography, Volume 8' edited by Larry R. Squire)
Yuh-Nung Jan's CV
Lily Jan's CV
Yuh-Nung Jan and Lily Jan
Birth
Family History and Growing Up
National Taiwan University
The Hiking Trip to Shitou in the Spring of 1967
Graduate School Application
Graduate Study at Caltech (1968锟974)
Seymour Benzer Lab (1974锟977)
Steve Kuffler锟絪 Lab at H... 阅读全帖 |
|
S***a
发帖数: 257 | 29 To fatsheep:
You gave a nice comment. I have the same question here.
If LZ suspect the phenotype is from Asc-/-Dock2-/- compound mutant mice,
then it explained why DOCK2 re-induction can rescue the ASC-/- (Asc-/-Dock2-
/- actually) phenotype.
If LZ have already get pure B6 background Asc-/- mice, then did you check
the phenotype of antigen presentation and DC migration? Does LZ's current
Asc-/- BMDCs have the same phenotype as NI paper reported? If LZ also see
the phenotype consistent with the N... 阅读全帖 |
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c****1
发帖数: 1095 | 30 1. The default “Metric for ranking genes” is “Signal2Noise”. I ran
GSEA, and used this option, and got good results. But when I go through the
manual, I found this note “The default metric for ranking genes is the
signal-to-noise ratio. To use this metric, your phenotype file must define
at least two categorical phenotypes and your expression dataset must contain
at least three (3) samples for each phenotype. If you are using a
continuous phenotype or your expression dataset contains fewer th... 阅读全帖 |
|
v**********m
发帖数: 5516 | 31 Sir Karl Raimund Popper, CH FRS[1] FBA (28 July 1902 – 17 September 1994)
was an Austro-British[2] philosopher and a professor at the London School of
Economics.[3] He is regarded as one of the greatest philosophers of science
of the 20th century;[4][5] he also wrote extensively on social and
political philosophy.
Popper is known for his attempt to repudiate the classical observationalist
/ inductivist form of scientific method in favour of empirical falsification
. He is also known for his oppo... 阅读全帖 |
|
x********u
发帖数: 430 | 32 I am now trying to switch my PhD project to SynBio area. My current work
focus on creating the best phenotype or genetic background to maximize
carbons flux towards an important intermediate metabolites and ulitmately we
are going to overproduce some natural products. Currently, the volumetric
production of one of our major products has reached 2 g/l.
Although traditional metabolic engineering or metabolic network modeling
holds great promise to engineer better industrially-revelant phenotype, g... 阅读全帖 |
|
x********u
发帖数: 430 | 33 I am now trying to switch my PhD project to SynBio area. My current work
focus on creating the best phenotype or genetic background to maximize
carbons flux towards an important intermediate metabolites and ulitmately we
are going to overproduce some natural products. Currently, the volumetric
production of one of our major products has reached 2 g/l.
Although traditional metabolic engineering or metabolic network modeling
holds great promise to engineer better industrially-revelant phenotype, g... 阅读全帖 |
|
m**********2
发帖数: 57 | 34 我的意思是Active JAK/STAT pathway出现某种phenotype，
而这种phenotype出现表明是激活JAK/STAT pathway 导致的。
Active JAK/STAT能够导致某种function assay or phenotype.
我现在是想加入某种drug出现某种function assay or phenotype.
说明drug是active JAK/STAT,
当然WB观察phosphorylation stat也是一种方法，但是只是从protein level。
我现在是想从功能level观察。想问问是不是有实践证明的Active JAK/STAT 导致的某
种function。
比如说某种细胞的分化，这样我加入drug，细胞出现分化，说明可能是active JAK/
STAT。 然后我再测量phosphorylation stat level increase，这样就比较完整了 |
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s****9
发帖数: 932 | 35 也跟风说说自己的两个经历。
一个是Nature，两个组的合作，对方是大company，贡献了80％的data，大部分是前期
的screen和in vitro的东西，我们20％data，给了一些in vivo的验证。因为我们验证
的base也是基于他们的screen结果，所以算他们的文章，我们也就是打酱油的。Nature
回来之后3个reviewer，一个reviewer说好，一个说还行，但是要补vivo的实验，最后
一个reviewer说了2页纸的试验，要补一堆vivo实验。对方的company的corresponding
author显然没有什么投稿经验，磨了3个月截至日期快到了，没有东西也没搞出来。我
老板一看，就把我自己project的东西加到里面，帮着回了response。只回答了第二个
reviewer的问题，把第三个reviewer说了一通。最后contribution大约60－40 （他们
60％，我们40％）。老板人很好，自己什么也没要，帮我争取了一个co－first。文章
最后接受了。我当时很高兴，一个figure就搞了个Nature co-first。后来发现这个排... 阅读全帖 |
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r*******y
发帖数: 48 | 36 backcrossing many generations in Tg study results in delay in the onset,
less severity or (to the extreme) even disappearance of the phenotype,
particularly in the heart field, has been observed in many labs which have
been working on Tg models. In some cases this phenomenon has nothing to do
with the position effect, or with mouse genetic background, becaseu it can
occur on independent lines with the similar genetic background. some labs
therefore had to repeatedly do the microinjection to gene... 阅读全帖 |
|
l**********1
发帖数: 5204 | 37 continue:
The "modern synthesis" of genetics and Darwinian evolution involves
mutations, variation caused by gene rearrangement, and natural selection.
>New variants of genes added to population through mutation - caused by
mistakes in replication, UV and radiation, and transposons.
>Recombination of genes by segregation and independent assortment produce an
almost limitless number of possible genotypes and thus a very large number
of possible phenotypes.
>Randomness and small steps of variation... 阅读全帖 |
|
w***r
发帖数: 709 | 38 1. Nature. 2002 Jan 3;415(6867):45-53.
p53 mutant mice that display early ageing-associated phenotypes.
Tyner SD(1), Venkatachalam S, Choi J, Jones S, Ghebranious N, Igelmann H, Lu
X,
Soron G, Cooper B, Brayton C, Park SH, Thompson T, Karsenty G, Bradley A,
Donehower LA.
Author information:
(1)Cell and Molecular Biology Program, Baylor College of Medicine, Houston,
TX
77030, USA.
Comment in
Nature. 2002 Jan 3;415(6867):26-7.
The p53 tumour suppressor is activated by numerous stressors to ind... 阅读全帖 |
|
d***s
发帖数: 1062 | 39 谢谢上面两位的帮忙，终于能分析了。
但是分析结果好像不是很好。
大部分的gene sets在WT里upregulated了，但是在KO里就
很少。我分析了好几个gene sets database都是这样。
不仅如此，KO组里一个能看的enrichment plot都没有。
我用的都是默认的parameter，有些parameter是不是应该改一改。
Enrichment in phenotype: WT (4 samples)
701 / 797 gene sets are upregulated in phenotype WT
0 gene sets are significant at FDR < 25%
13 gene sets are significantly enriched at nominal pvalue < 1%
36 gene sets are significantly enriched at nominal pvalue < 5%
Enrichment in phenotype: KO (4 samples)
96 /... 阅读全帖 |
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M***D
发帖数: 249 | 40 My bad. I have no idea why I automatically thought about psychiatric illness
"Williams Syndrome" when I see 7q deletion, but in fact 7q deletion may
cause hundreds of different diseases.
Following is a case report about 7q32q34 deletion found in a 2 month-old
baby girl. "Parental FISH analysis showed that the patient’s father, who
was reportedly phenotypically normal, carries a deletion at the same
location. Thus, in addition to variable expressivity, incomplete penetrance
might be a genetic fe... 阅读全帖 |
|
s*******9
发帖数: 177 | 41 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 |
|
s*******9
发帖数: 177 | 42 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 |
|
s*******9
发帖数: 177 | 43 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 |
|
s*******9
发帖数: 177 | 44 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 |
|
s*******9
发帖数: 177 | 45 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 |
|
f*****n
发帖数: 12752 | 46 你真应该去干主编，有这么强势约稿的嘛？这些个高大上的题目，大大小小的腕们，我
来凑什么热闹嘛
基于本人曾是个不称职的科学工作者，虽然听说过《自私的基因》这本书，但不知道其
作者就是这位richard dawkins。狗了一下，简单叙述一下他的理论，对于law的看法，
以及本文提到的三个错误，请方家指正。一家之言，诸君姑妄听之。
Dawkins是个否定上帝的无神论者，他提出的自私的基因理论认为：基因是遗传信息的
携带者，其遗传信息（genotype）在体内表达（即dna的转录成rna或进一步转译为蛋白
质），最终表现为生物体的性状（phenotype）。举个栗子，眼睛的颜色应该是由色素
的多少决定的，而色素产生的多少是由基因决定的。每个人的眼睛颜色是“先天注定”
的，因为他还是受精卵的时候基因就已经存在，决定了色素将来产生多少。在外界的自
然选择过程中，能提高生命体生存优势的性状被保留（例如，假设黑眼珠不影响人的黑
暗视力，白眼珠会使人在黑暗中失去全部视力的话，黑夜中的捕食者很可能灭绝所有白
眼珠的人），带来劣势的性状会被淘汰（通过拖累生物体）。由于这些性状是由基因表
达的，于是站在基因... 阅读全帖 |
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t**i
发帖数: 688 | 47 重新整理一下：
Assuming all the facts were true;
Assume this phenotype is Mendelian and determined by an autosomal single
locus.
Assuming HWE.
Denote p = population allele frequency of Double-eyelids, q = 1 - p =
population allele frequency of single eyelid.
Then we have
Pr(Mother is hybrid) = 1;
Pr(GaoShuaiFu is pure recessive) = 1;
Pr(Father is hybrid) = 2pq, Pr(Father is pure Double-eyelid) = p*p
Then Pr(kid is Single-eyelid | Father is hybrid) = 1/4
Pr(kid is Single-eyelid | Father is pure Double)... 阅读全帖 |
|
H********g
发帖数: 43926 | 48 似乎Y染色体上这个SRY基因比较重要，有SRY基因就会导致睾丸发育。
http://en.wikipedia.org/wiki/Testis_determining_factor
特别是下面这段说的内容，说这个SRY基因，如果不小心在爸爸的体内重组到X染色体，
就导致X染色体带这个SRY基因，然后这种X染色体做成小孩，就成了核型是XX但是外观
是男性。
所以如果故意给女孩胚胎转个SRY基因，也许再打点激素，应该可以做出男的来。
A genetic recombination event known as crossing over can result in
karyotypes that do not match their phenotypic expression.
Crossing over during paternal meiosis prior to conception can cause SRY to
be transferred from the Y chromosome to the X chromosome. The Y chromosome
that resu... 阅读全帖 |
|
c****t
发帖数: 19049 | 49 ScienceDaily (July 9, 2011) — For the past decade, researchers have tried
to reprogram the identity of all kinds of cell types. Heart cells are one of
the most sought-after cells in regenerative medicine because researchers
anticipate that they may help to repair injured hearts by replacing lost
tissue. Now, researchers at the Perelman School of Medicine at the
University of Pennsylvania are the first to demonstrate the direct
conversion of a non-heart cell type into a heart cell by RNA transfer... 阅读全帖 |
|
b***g
发帖数: 110 | 50 做植物的最早发现了一种叫做corepression的现象，这种现象按我的理解是，就是用转
基因的方法去rescue一个phenotype,结果却产生了一种loss of function的phenotype.
当时植物学家无法解释这个现象，而且做corepression还要generate transgenic
lines,其实挺不方便的。后来做其他organisms也发现了这个现象，但都不知道机理。
好，现在让我们跳到1995年.康乃尔大学ken kemphues实验室研究的一个非常聪明的中
国学生，Guo Su（现在UCSF), 发表了一片cell的文章。在这篇文章中，她做了一个
antisense phenotype copy analysis,就是in vitro transcribed antisense RNA of
par-1,然后直接注射到c.elegans gonad,希望能够knockdown par-1 activity.事实上
，她成功了。但是更有趣的是，当时她的control是sense strand of par-1 RNA,这个
control却产生了同样 |
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