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伴DAX-1基因新突变的先天性肾上腺发育不良家系报道(英文) 被引量:1
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作者 Zhe ZHANG Ye FENG +3 位作者 Dan YE Cheng-jiang LI feng-qin dong Ying TONG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2015年第11期963-968,共6页
目的:X连锁的先天性肾上腺发育不良(AHC)是一种罕见疾病,主要表现为肾上腺皮质激素的严重缺乏和低促性腺激素型性腺功能不全。该研究的目的在于加强对该病临床表现和分子缺陷的认识。创新点:不仅完整记录了该家系的临床特征,而且在基因... 目的:X连锁的先天性肾上腺发育不良(AHC)是一种罕见疾病,主要表现为肾上腺皮质激素的严重缺乏和低促性腺激素型性腺功能不全。该研究的目的在于加强对该病临床表现和分子缺陷的认识。创新点:不仅完整记录了该家系的临床特征,而且在基因水平加以证实,完善了疾病的基因突变图谱,有助于早期诊断,为基因型与临床表型间相互关系的研究奠定基础。方法:DAX-1基因的测序法。结论:DAX-1基因外显子2的1268位腺嘌呤缺失导致一个新的移码突变。该疾病为X连锁隐形遗传。 展开更多
关键词 先天性肾上腺发育不良 DAX-1基因 移码突变
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Photodamage to Pigment in the Photosystem Ⅱ Reaction Center D1/D2/Cytochrome b559 Complex
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作者 Shuang Liu feng-qin dong +3 位作者 Chong-Qin Tang Ting-Yun Kuang Liang-Bi Li Yu-Long Liu 《Journal of Integrative Plant Biology》 SCIE CAS CSCD 2006年第7期800-806,共7页
Strong light (800μmol photons/m^2 per s)-induced bleaching of the pigment in the isolated photosystem Ⅱ reaction center (PSII RC) under aerobic conditions (in the absence of electron donors or acceptors) was s... Strong light (800μmol photons/m^2 per s)-induced bleaching of the pigment in the isolated photosystem Ⅱ reaction center (PSII RC) under aerobic conditions (in the absence of electron donors or acceptors) was studied using high-pressure liquid chromatography (HPLC), absorption spectra, 77K fluorescence spectra and resonance Raman spectra. Changes in pigment composition of the PSII RC as determined by HPLC after light treatment were as follows: with Increasing illumination time chlorophyll (Chl) a and β-carotene (β-car) content decreased. However, decreases in pheophytin (Pheo) could not be observed because of the mixture of the Pheo formed by degraded chlorophyll possibly. On the basis of absorption spectra, it was determined that, with a short time of illuminatlon, the initial bleaching occurred maximally at 680 nm but that with Increasing Illumination time there was a blue shift to 678 nm. It was suggested that P680 was destroyed Initially, followed by the accessory chlorophyll. The activity of P680 was almost lost after 10 mln light treatment. Moreover, the bleaching of Pheo and β-car was observed at the beginning of illumination. After Illumination, the fluorescence emission Intensity changed and the fluorescence maximum blue shifted, showing that energy transfer was disturbed. Resonance Raman spectra of the PSII RC excited at 488.0 and 514.5 nm showed four main bands, peaking at 1 527 cm^-1 (υ101), 1 159 cm^-1 (υ2), 1 006 cm^-1 (υ3), 966 cm^-1 (υ4) for 488.0 nm excitation and 1 525 cm^-1 (υ1), 1 159 cm^-1 (υ2), 1 007 cm^-1 (υ3), 968 cm^-1 (υ4) for 514.5 nm excitation. It was confirmed that two spectroscopically different β-car molecules exist In the PSII RC. After light treatment for 20 mln, band positions and bandwidths were unchanged. This indicates that carotenoid configuration Is not the parameter that regulates photoprotectlon in the PSII RC. 展开更多
关键词 high-pressure liquid chromatography (HPLC) PHOTODAMAGE photosystem reaction center (PSII RC) resonance Raman spectroscopy
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