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951.
Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13 总被引:6,自引:0,他引:6 下载免费PDF全文
Chen WM Liu YF Lin MW Chen IC Lin PY Lin GL Jou YS Lin YT Fann CS Wu JY Hsiao KJ Tsai SF 《American journal of human genetics》2004,75(2):310-317
Avascular necrosis of the femoral head (ANFH) is a debilitating disease that commonly leads to destruction of the hip joint in adults. The etiology of ANFH is unknown, but previous studies have indicated that heritable thrombophilia (increased tendency to form thrombi) and hypofibrinolysis (reduced ability to lyse thrombi), alcohol intake, and steroid use are risk factors for ANFH. We recently identified two families with ANFH showing autosomal dominant inheritance. By applying linkage analysis to a four-generation pedigree, we excluded linkage between the family and three genes related to thrombophilia and hypofibrinolysis: protein C, protein S, and plasminogen activator inhibitor. Furthermore, by a genomewide scan, a significant two-point LOD score of 3.45 (recombination fraction [theta] = 0) was obtained between the family with ANFH and marker D12S85 on chromosome 12. High-resolution mapping was conducted in a second family with ANFH and replicated the linkage to D12S368 (pedigree I: LOD score 2.47, theta = 0.05; pedigree II: LOD score 2.81, theta = 0.10). When an age-dependent-penetrance model was applied, the combined multipoint LOD score was 6.43 between D12S1663 and D12S85. Thus, we mapped the candidate gene for autosomal dominant ANFH to a 15-cM region between D12S1663 and D12S1632 on chromosome 12q13. 相似文献
952.
小麦体细胞再生株(R1)的染色体变异分析 总被引:5,自引:0,他引:5
吴鹤鸣 《Acta Botanica Sinica》1992,34(3):226-232
本文研究了普通小麦(Triticum aestivum)、“宁麦三号”等5个基因型的体细胞再生株(R_1)减数分裂各期的染色体异常行为。结果表明:再生株 R_1代有丝分裂时表现为染色体数量上的变异,最常见的有2n-2类型,其次是2n-1类型,也有少数为2n 1和2n-4等变异类型;再生株 R_1花粉母细胞减数分裂过程中出现单价体、多价体、染色体桥、落后染色体、断片和微核等异常现象,并与各基因型细胞遗传程度上差异有关。 相似文献
953.
Abid MR Schoots IG Spokes KC Wu SQ Mawhinney C Aird WC 《The Journal of biological chemistry》2004,279(42):44030-44038
954.
A method of enzyme release and aqueous two-phase extraction is described for the separation of penicillin acylase from Escherichia coli cells. Butyl acetate, 12% (v/v), treatment combined with freeze-thawing gives up to 70% enzyme release. For polyethylene glycol (PEG) + phosphate two-phase extraction systems the enzyme purity and yield were rather low. Modified PEG, including PEG-ampicillin, PEG-aniline, PEG-phosphate, and PEG-trimethylamine, were synthesized and used in aqueous two-phase systems; PEG-trimethylamine is the most satisfactory. A system containing 12% (w/w) PEG4000, 8% (w/w) of which is PEG-trimethylamine, with 0.7M potasium phosphate at pH 7.2, resulted in the enzyme selective partition being greatly enhanced by charge directed effects. Possible mechanisms for the separation process are discussed. (c) 1992 John Wiley & Sons, Inc. 相似文献
955.
Cultivation of Brevibacterium divaricatum for glutamic acid production in an airlift reactor with net draft tube was developed. Cell concentration gave an index for adding penicillin G. On-line estimation of total sugar concentration yielded an identified model which was used for determination of the substrate addition. Fermentation for glutamic acid production requires high oxygen concentration in the broth. The proposed reactor has the capability to provide sufficient oxygen for the fermentation. Since the reactor is suitable for fed-batch culture, the cultivation of B. divaricatum for glutamic acid production in the proposed reactor is successfully carried out.List of Symbols
a
system parameter
-
b
system parameter
-
C
c,in
mole fraction carbon dioxide in the gas inlet
-
C
c,out
mole fraction carbon dioxide in the gas outlet
-
C
L
mole/dm3
oxygen concentration in liquid phase
-
C
L
*
mole/dm3
saturated oxygen concentration in liquid phase
-
C
0,in
mole fraction of oxygen in the gas inlet
-
C
0,out
mole fraction of oxygen in the gas outlet
-
CPR mole/h/dm3
carbon dioxide production rate based on total broth
-
E(t)
error signal
-
F
in
mole/h
inlet gas flow rate
-
k
1
constant defined by Eq. (4)
-
k
2
constant defined by Eq. (5)
-
k
L
a 1/h
volumetric mass transfer coefficient of gas-liquid phase
-
OUR mole/h/dm3
oxygen uptake rate based on total broth
-
P atm
pressure in the reactor
-
t h
time
-
TS
c
g
total sugar consumption
-
TS
s
g/dm3
set point of total sugar concentration
-
TS
*
g/dm3
reference value of total sugar concentration
-
TS(t) g/dm3
total sugar concentration in the broth at timet
-
u(t) cm3/min
feed rate at timet
-
V dm3
total broth volume
-
VVM (dm3/min)/dm3
flow rate per unit liquid volume
-
a negative constant defined by Eq. (7) 相似文献
956.
957.
本文采用寡核苷酸介导的定位诱变技术修正了人嗜中性白细胞活化蛋白-1/白细胞介素-8合成基因中出现的合成错误,在该基因编码区的201位插入了原来缺失的G残基,从而使之恢复正确读框。经对修正基因进行DNA全序列测定,表明定位诱变的结果符合设计要求。在此基础上,利用原核高效表达载体pBV220在P_RP_L串联启动子的控制下在大肠杆菌中对该基因进行了表达,并测定了重组人嗜中性白细胞活化蛋白-1/白细胞介素-8的嗜中性白细胞趋化活性。本工作为开展人嗜中性白细胞活化蛋白-1/白细胞介素-8基因工程及蛋白质工程的研究奠定了基础。 相似文献
958.
西洋参(Panax Quinquefolium L.)种胚需经形态后熟和生理后熟后才能萌发.经过激素(GA100ppm+KT50ppm+BA20ppm)处理的西洋参种子,在后熟过程中鲜重增加,β—淀粉酶活性增强,过氧化物酶活性保持较高水平.在生理后熟期,可溶性蛋白量逐渐增多.激素处理加速了胚体内物质的分解和合成,促使胚迅速发育和分化,缩短了种胚完成形态和生理后熟的时间,使种子提早一年萌发. 相似文献
959.
960.