c**i
发帖数: 6973 | 1 (1) You say, "现在在国内."
Sorry, there is NOTHING anybody can do, now that the patient--er, the dog--
is in China. Say what you may, but China is no place to treat human or
animal patients.
(2) Jack Daniel Terrier
http://en.wikipedia.org/wiki/Jack_Russell_Terrier
(Originating in the early 19th century from dogs bred and used by Reverend
John Russell, it has similar origins to the modern Fox terrier)
(3) Google with the term (Jack Daniel Terrier spine)--not quotation marks--
and you will find many ow... 阅读全帖 |
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o**s
发帖数: 3412 | 2 Maybe you didnt do anything wrong. Does bingbing has Siamese gene?
"Recent studies have shown that Siamese cats from all over the world are
over-represented amongst cases of mediastinal (thymic / thoracic) lymphoma (
lymphosarcoma). Affected cats are usually young (often less than 2 years old
), FeLV negative, and they typically respond favourable to chemotherapy,
with some cats gaining life-long remissions. Although the mode of
inheritance has not been confirmed, it is suspected to be autosomal... 阅读全帖 |
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V****n
发帖数: 651 | 3 朋友认识一对清华老教授，四处为他们28岁左右的博士女儿找男朋友，不过一直找不到
合适的。
杰出的女性如果没有及时把优秀基因传递下去，实在是很浪费。由于X染色体携带众多
包括影响智力的隐形基因，杰出能力的女性一般都携带相当多双隐形基因，基本上相当
于出生时中了基因彩票（genetic lottery)，而同样能力的男性只需携带单个基因（所
以人数众多）。从传承角度讲，该类女性不论找什么样的老公，如果生儿子，基本上都
很可能同样杰出（当然autosomal的遗传也有影响）。而同样能力的男性则无此奢侈。
历史上杰出男性找了笨老婆几代就毁了基业的事情，实在是多得不能再多。
女性千百年来作为男性附属，基本上默默承担着传宗接代的义务。传统以来她们的价值
往往需要通过嫁个杰出的老公和生个杰出的儿子来表现。近百年来女性争取到了极大的
权利，不再是男人的附属。这当然是应当的，但不幸的是在传递基因这最根本的生物本
性方面，杰出女性却正好走向下坡路。剩女现象的出现，从一开始就跟女性权利和地位
的增加息息相关。从欧美到日本，到四小龙，现在到中国，莫不如此。根本的原因来自
女性本身生物性和社会性的冲突。如果读过... 阅读全帖 |
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P******l
发帖数: 1648 | 4 Here is my email to Victor Chang a few days ago. There is no response yet.
I also have friends in NCBI who may help me check this(verifying through
multiple samples) with existing online source.
"Are there any paper or tool to show that all these 789 sequences are same
for multiple people from all over the world? (2q13–2q14.1 789 nucleotide
sequence 108305-109093)
It doesn't have to be a big number of samples. Only 38 samples(from
different locations in the world) were tested to draw the con... 阅读全帖 |
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s******d
发帖数: 303 | 5 有些假阳性是因为data cleaning 没做好，genotyping error 造成的。比如最近闹得
沸沸扬扬
的longevity GWAS 发在science 上。就像一个靶子一样被一堆人披了。
GWAS 本身从方法上来说是不错的，但是数据是人收集的，难免有mis-classificaiton,
mis-
identification of samples. 还有很多其他的遗传背景，认为数据采集，以及一些环
境干扰因
素，影响了power。况且GWAS的假设就是common variant， which means MAF>10%. 另外
common disease model， architecture, 等这些都是结果比大家期望的低。
前一段时间nature genetics 上一个关于升高的GWAS, 用所有GWAS的marker 来计算好
像整个
autosomes account for ~40% Height variance. |
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i***0
发帖数: 160 | 6 Please check the method part of this paper, Immunoblotting of Rhodopsin."
Probing mechanisms of photoreceptor degeneration in a new mouse model of the
common form of autosomal dominant retinitis pigmentosa due to P23H opsin
mutations."Sakami S, Maeda T, Bereta G, Okano K, Golczak M, Sumaroka A,
Roman AJ, Cideciyan AV, Jacobson SG, Palczewski K.J Biol Chem. 2011 Jan 11.
[Epub ahead of print] |
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i***R
发帖数: 663 | 7 这不知道得多大的场地做实验。
Sci Transl Med 16 March 2011:
Vol. 3, Issue 74, p. 74ra24
DOI: 10.1126/scitranslmed.3001868
RESEARCH ARTICLE
CYSTIC FIBROSIS
The ΔF508 Mutation Causes CFTR Misprocessing and Cystic Fibrosis–Like
Disease in Pigs
Lynda S. Ostedgaard1,*, David K. Meyerholz2,*, Jeng-Haur Chen1,3,*,
Alejandro A. Pezzulo1, Philip H. Karp1,3, Tatiana Rokhlina1, Sarah E.
Ernst1, Robert A. Hanfland4, Leah R. Reznikov1, Paula S. Ludwig1, Mark
P. Rogan1, Greg J. Davis1, Cassie L. Dohrn2, Christine Wohlford-L... 阅读全帖 |
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h*******o
发帖数: 4884 | 8 还有APP和PS1 对familial AD
autosomal dominant
呵呵
叫一个好 |
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h*******o
发帖数: 4884 | 9 In familial but not sporadic AD, APP and PS is 100% autosomal dominant.
It could be either APP or PS1, I haven't heard of any case where both APP
and PS1 mutation were identified.
A transgenic/knockin/out mouse model is a good research tool, but could
tweak the research too much for therapeutic development to focus on a sub-
optimal target. This is particularly true for diseases with unknown/
unidentified etiology.
I am not familiar with autism, but I think both sporadic AD and autism
belong to ... 阅读全帖 |
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v******l
发帖数: 235 | 10 求Paper, 请发到 j********[email protected]. 包子答谢!
PMID: 19546862
[PubMed - indexed for MEDLINE]
Nat Rev Nephrol. 2009 Aug;5(8):441-9. Epub 2009 Jun 23.
The role of transient receptor potential channels in kidney disease.
Woudenberg-Vrenken TE, Bindels RJ, Hoenderop JG.
Source
Department of Physiology, Radboud University Nijmegen Medical Centre,
Nijmegen, The Netherlands.
Abstract
The transient receptor potential (TRP) superfamily consists, in mammals, of
six protein subfamilies, TRPC, TRPM, TRPV, T... 阅读全帖 |
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j*****d
发帖数: 787 | 11 this one may be not right.
i guess they two share the same name Zhao Chen.
One is working in Tianjin, another one working in Nanjin.
Correct me if I am not right. and I will delet this post.
4: Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger
SP,
Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C. Autosomal-dominant retinitis
pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding
of
U4/U6 snRNAs. Am J Hum Genet. 2009 Nov;85(5):617-27. Epub 2009 Oct 29.
P... 阅读全帖 |
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l**********1
发帖数: 5204 | 12 En
温习一下 其十一年前的豪言 啊
中国科学：显著的发展和严峻的挑战
——历史演变和现状比较
于2001年12月4日 1st version
饶毅
本文在简要回顾中国科学史的基础上，介绍一些近年研究的内容，肯定中国
科学令人乐观的进步，并讨论可能的意义。同时也指出，中国优秀论文总量仍不
到世界的百分之一，低于中国经济在世界所占的百分比、也不能适应中国持续发
展的要求。中国科学的规模需要相当程度的扩大、质量有待进一步提高。中国科
技还存在面临许多问题和挑战。
中国科学历史上的优秀例子
一个国家科学研究状况可以近似地由发表论文的情况所反映。以下，本文主
要从生命科学的研究来讨论中国科学的情况，一方面这是我有一定判断力的领域，
另一方面生命科学是科学技术最重要的组成部分之一，可以反映科学主流。讨论
中国论文发表情况前，先谈两个背景：中国科学的历史情况，优秀科学和著名杂
志的关系。
奠定中国生命科学研究是二、三十年代协和医学院生理系林可胜和生化系吴
宪。他们不仅自己研究出色，而且培养和带领了其他研究者。林可胜在胃肠道生
理和神经生理有优秀工作。1942年，他在中国当选为美国科学院外籍院士，是... 阅读全帖 |
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a*****x
发帖数: 901 | 13 细菌有能力mating的。
我一直赞同selection pressure的大小决定了哪一种生殖方式最优。
人类社会近亲不能结婚更多的是社会原因。至于从进化角度是好是坏都有可能。不过告
诉你一个现实的例子，是负面效应。
Huntington's Disease是一种罕见病，全球发病率大约万分之一。但是在Venezuela,
发病率高了70倍,就和其居民历史上近亲结婚有关。HD是autosomal dominant都保留下
来了。你要考虑到近亲结婚也会浓缩不好的基因，只要它不影响繁殖。 |
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D****e
发帖数: 14 | 14 这篇文章好几个基本常识都错了。。
。。。A scan over all human chromosomes (22 autosomes + X + Y) reveals that
there are 150,281,981 CpG sites。。
作者到底有没有读过ENCODE那一系列的文章啊。。怎么发表的。。 |
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b****r
发帖数: 17995 | 15 大家知道有什么pathway或者gene family 的突变经常会造成autosomal dominant
genetic disease吗，机理可以说haploinsufficiency或者gain of function 之类的。
我知道比如chromosome remodeling pathway差不多就属于这种情况 |
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m***T
发帖数: 11058 | 16 frozen stored in paraffin block通常是指已经经过福尔马林处理的石蜡包埋的。我
不是这方面的行家，但FAOD应该是fatty acid oxidation disorders的缩写。即使
确诊需要liver tissue来检测酶的活性，FFPE过的tissue酶的活性也应该已经丧失了。
这病好象是autosomal recessive disorder，说明父母双方都是携带者孩子才有可能得
病，这可以通过基因检测的方式来确认。孩子目前做过哪些检查，尿和血液的各类检查
做过吗？为什么怀疑是FAOD？ |
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r******g
发帖数: 600 | 18 嗯，开发药物那个，说的还是有道理的！ 没想到 FDA可以approve的这么快～
rare disease 里面，biallelic loss-of-function的 很多都是无法治疗的，根本无法
开发药物 （除了一些 已知的代谢疾病，可以进行 supplement治疗）。绝大多数
biallelic的 已知的rare disease 致病基因都是 细胞内的 蛋白问题，几乎无法开发
药物target。
Autosomal dominant的 rare disease 还是比较适合 开发target therapy的. |
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r******g
发帖数: 600 | 19 嗯，开发药物那个，说的还是有道理的！ 没想到 FDA可以approve的这么快～
rare disease 里面，biallelic loss-of-function的 很多都是无法治疗的，根本无法
开发药物 （除了一些 已知的代谢疾病，可以进行 supplement治疗）。绝大多数
biallelic的 已知的rare disease 致病基因都是 细胞内的 蛋白问题，几乎无法开发
药物target。
Autosomal dominant的 rare disease 还是比较适合 开发target therapy的. |
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d*****i
发帖数: 52 | 20 我羊穿后加做了microarray，这个结果是说小于多少size的就不报告了吗，那到底是不
是正常啊
NOTE: It is possible that this individual's DNA showed one or more copy
number variants
(CNV's) of no clinical significance that are not listed in this report. Copy
number
alterations that do not contain any genes, and copy number gains less than 1
Mb and losses
less than 400 Kb in size with no known clinical significance are not
reported. Uniparental
isodisomy/regions of homozygosity less than 8 Mb in size will not be
reported unless
accompanie... 阅读全帖 |
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S******9
发帖数: 2837 | 21 A man is known hetrozygous carrier of mutation that causes
hemochromatosis.(autosomal recessive disease).Suppose that 1% of general
population consist of homozygote for this mutation.If the man mates with
sombody from general population what will be the probability that he and
his mate will produce a child who is an affected homozygote.
a.0.025
b.0.045
c.0.09
d.0.10
e.0.25
B
q=1/10
p=1-1/10=9/10
female: 2pq=9/50
female transfer this gene to kids: 9/50x1/2
male transfer this gene to kids: 1/10x1/... 阅读全帖 |
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N***a
发帖数: 149 | 22 MEDICAL ETHICS 137 cases:
________________________
1. A 25- year old mother refused immunization for her 2-month old son. The
social worker spoke to the mother. (Important for Board examination)
Next step in management: immunization should be given for the benefit of the
child.
2. A 30-year old mother refused surgery for suspected appendicitis for her 6
-year old daughter. The social worker spoke to the mother. (Important for
Board examination)
Next step in management: surgical removal of the ap... 阅读全帖 |
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b*****l
发帖数: 8603 | 23 2007年的，不知道你们说的是不是这个。祝好。
medical ethics more than hundred cases
Sep 24th, 2007, 12:17pm
1. A 25- year old mother refused immunization for her 2-month old son. The
social worker spoke to the mother. (Important for Board examination)
Next step in management: immunization should be given for the benefit of the
child.
2. A 30-year old mother refused surgery for suspected appendicitis for her 6
-year old daughter. The social worker spoke to the mother. (Important for
Board examination)
Next step in ma... 阅读全帖 |
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t*****0
发帖数: 264 | 24 thx cczhang for the work, hope this benifit you as well.
Just some recall from my poor memory, I think the first choice should be '
have pt drink a lot of water' or something like that. IF that's the case,
1st choice would not be a good one, since it may contraindicate the upcoming
surgery.
FYI, Cczhang, The sickle Cell anemia is a autosomal recessive disease. Most
A.A. female get it.
is
of |
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A*******s
发帖数: 9638 | 27 你们医院怎么会有这么多wilson‘s， 是不是全国的病人都跑到你们那了？ 这可是
autosomal recessive， 几十万人就一个。 |
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y******a
发帖数: 590 | 28 it's unlikely to be Blau. Blau is caused by an autosomal dominant mutation
of NOD2 gene. if both parents are healthy, the affected kid most likely has
a de novo mutation of the gene. it would be very unlikely for two kids
have same de novo mutation. Blau patients usually have arthritis, uveitis
and granulomatous dermatitis. So, skin biopsy, ophthalmology consult and
genetic test are important for diagnosis. do they have rash and skin biopsy
?
If it's confirmed that they have Blau, oral ... 阅读全帖 |
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