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The Study on the Heredity and Parental Correlation of the Oil Content of F_5 Generation at High-oil Content Soybean 被引量:2
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作者 孟凡钢 富健 +5 位作者 王新风 马巍 于志晶 姜兆生 彭辉 王艳霞 《Agricultural Science & Technology》 CAS 2011年第1期93-95,共3页
[Objective]This paper aims to study the heredity and parental correlation of the oil content of the beginning of the generation at highoil content soybean.[Methods]Seven high yield or high-oil content soybean are sele... [Objective]This paper aims to study the heredity and parental correlation of the oil content of the beginning of the generation at highoil content soybean.[Methods]Seven high yield or high-oil content soybean are selected and eight crosses are made according to the NCII design.[Results]The variation of oil content in F5 relates with the difference between parents.The more the differences between both parents have,the more variations of the oil content of F5 become.When the oil content of both parents are high,and the maturating time of them are very different,the probability of high-oil plant in F5 derived from these cross are high.The oil content of F5 generation has negative correlation with the different between both parents and has positive correlation with the oil content of male parent and significant positive correlation with the oil content of female parent and mid-parent.[Conclusions]This study result provide reference for the seedling of High-oil Content Soybean. 展开更多
关键词 SOYBEAN High-oil The F5 generation heredity China
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Heredity of Aluminum Melt Caused by Electric Pulse Modification (Ⅰ) 被引量:13
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作者 WANG Jian-zhong QI Jin-gang +1 位作者 DU Hui-ling ZHANG Zhen-bin 《Journal of Iron and Steel Research International》 SCIE EI CAS CSCD 2007年第4期75-78,共4页
The heredity of aluminum melt under the action of pulse electric field was investigated by means of the remelt experiment. A new hereditary criterion under this condition was proposed; in the meantime, the differentia... The heredity of aluminum melt under the action of pulse electric field was investigated by means of the remelt experiment. A new hereditary criterion under this condition was proposed; in the meantime, the differential transferability of genetic carrier in activated melt among filial generations was validated with the aid of DSC. 展开更多
关键词 electric pulse modification aluminum melt heredity DSC CLUSTER
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f-heredity knowledge and f-heredity mining 被引量:14
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作者 Cui Minghui Shi Kaiquan 《Journal of Systems Engineering and Electronics》 SCIE EI CSCD 2006年第4期798-801,810,共5页
Using S-rough sets, this paper gives the concepts off-heredity knowledge and its heredity coefficient, and f-variation coefficient of knowledge; presents the theorem of f-attribute dependence of variation coefficient ... Using S-rough sets, this paper gives the concepts off-heredity knowledge and its heredity coefficient, and f-variation coefficient of knowledge; presents the theorem of f-attribute dependence of variation coefficient and the relation theorem of heredity-variation. The attribute dependence of f-variation coefficient and the relation of heredity-variation are important characteristics of S-rough sets. From such discussion, this paper puts forward the heredity mining off-knowledge and the algorithm of heredity mining, also gives its relative application. 展开更多
关键词 S-rough sets f-heredity knowledge f-variation coefficient the theorem of f-attribute dependence of variation coefficient the relation theorem of heredity - variation algorithm off-heredity mining application.
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The role of heredity in pterygium development 被引量:6
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作者 Peter Anguria James Kitinya +1 位作者 Sam Ntuli Trevor Carmichael 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2014年第3期563-573,共11页
Several risk factors,which include heredity,ultra-violet (UV) light and chronic inflammation,contribute to pterygium development.However,there is no report integrating these factors in the pathogenesis of pterygium.Th... Several risk factors,which include heredity,ultra-violet (UV) light and chronic inflammation,contribute to pterygium development.However,there is no report integrating these factors in the pathogenesis of pterygium.The aim of this review is to describe the connection between heredity,UV,and inflammation in pterygium development.Existing reports indicate that sunlight exposure is the main factor in pterygium occurrence by inducing growth factor production or chronic inflammation or DNA damage.Heredity may be a factor.Our studies on factors in pterygium occurrence and recurrence identify that heredity is crucial for pterygium to develop,and that sunlight is only a trigger,and that chronic inflammation promotes pterygium enlargement.We propose that genetic factors may interfere with the control of fibrovascular proliferation while UV light or(sunlight)most likely only triggers pterygium development by inducing growth factors which promote vibrant fibrovascular proliferation in predisposed individuals.It also just triggers inflammation and collagenolysis,which may be promoters of the enlargement of the fibrovascular mass.Pterygium probably occurs in the presence of exuberant collagen production and profuse neovascularisation. 展开更多
关键词 PTERYGIUM fibrovascular proliferation heredity SUNLIGHT INFLAMMATION growth factors
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Advances in salinity tolerance of soybean: Genetic diversity, heredity, and gene identification contribute to improving salinity tolerance 被引量:5
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作者 CHEN Hua-tao LIU Xiao-qing +4 位作者 ZHANG Hong-mei YUAN Xing-xing GU He-ping CUI Xiao-yan CHEN Xin 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2018年第10期2215-2221,共7页
Salt stress is one of the major abiotic stresses affecting soybean growth. Genetic improvement for salt tolerance is an effective way to protect soybean yield under salt stress conditions. Successful improvement of sa... Salt stress is one of the major abiotic stresses affecting soybean growth. Genetic improvement for salt tolerance is an effective way to protect soybean yield under salt stress conditions. Successful improvement of salt tolerance in soybean relies on identifying genetic variation that confers tolerance in soybean germplasm and subsequently incorporating these genetic resources into cultivars. In this review, we summarize the progress in genetic diversity and genetics of salt tolerance in soybean, which includes identifying genetic diversity for salt tolerant germplasm; mapping QTLs conferring salt tolerance; map-based cloning; and conducting genome-wide association study(GWAS) analysis in soybean. Future research avenues are also discussed, including high throughput phenotyping technology, the CRISPR/Cas9 Genome-Editing System, and genomic selection technology for molecular breeding of salt tolerance. 展开更多
关键词 SOYBEAN genetic variation heredity gene identification salinity improvement
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Heredity of Aluminum Melt by Electric Pulse Modification (Ⅱ) 被引量:4
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作者 QI Jin-gang WANG Jian-zhong +1 位作者 DU Hui-ling CAO Li-yun 《Journal of Iron and Steel Research International》 SCIE EI CAS CSCD 2007年第5期76-78,35,共4页
Heredity of high pure aluminum melts under different pulse electric field was investigated by means of repetitious remelt experiment. The results indicate that the genetic coefficient by measurement of grain size of c... Heredity of high pure aluminum melts under different pulse electric field was investigated by means of repetitious remelt experiment. The results indicate that the genetic coefficient by measurement of grain size of cast structure has a close relation with pulse voltage. Moreover, the hereditary law accords with the function of In = 1+ e^-an+β. The stability of genetic carrier (cluster) comprises in the competition between repetitious cooling and heating impulse and the effect of electric pulse modification. 展开更多
关键词 electric pulse modification remelt heredity CLUSTER
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Heredity of clusters in the rapidly cooling processes of Al-doped Zr_(50)Cu_(50)melts and its correlation with the glass-forming ability 被引量:2
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作者 Dadong Wen Yonghe Deng +1 位作者 Ming Gao Zean Tian 《Chinese Physics B》 SCIE EI CAS CSCD 2021年第7期362-369,共8页
The heredity of clusters in rapidly cooled(Zr_(50)Cu_(50))_(100-x)Al_x melts and its correlation with glass-forming ability(GFA)are studied via molecular dynamics simulations.Pair distribution function and the largest... The heredity of clusters in rapidly cooled(Zr_(50)Cu_(50))_(100-x)Al_x melts and its correlation with glass-forming ability(GFA)are studied via molecular dynamics simulations.Pair distribution function and the largest standard cluster(LSC)are adopted to characterize the local atomic structures in the(Zr_(50)Cu_(50))_(100-x)Al_(x)systems.The[12/555]icosahedra and their medium-range order(IMRO)play an important role in forming(Zr_(50)Cu_(50))_(100-x)Al_(x)metallic glasses(MGs).The fraction of[12/555],the number of IMRO,and the maximum size of IMRO in MGs increase significantly with increasing x.A tracking study further reveals that the configuration heredity of icosahedral clusters starts from supercooled liquids.No direct correlation exists between the GFA and the onset temperature of continuous or stated heredity.Instead,a larger hereditary supercooled degree of icosahedra matches with better GFA of Al-doped Zr_(50)Cu_(50)alloys. 展开更多
关键词 glass forming ability atomic structure heredity molecular dynamics
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Further study on heredity of liquid aluminum modified by electric pulse 被引量:2
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作者 Qi Jingang Zhao Zuofu +2 位作者 Dai Shan Zhang Dongjun Wang Jianzhong 《China Foundry》 SCIE CAS 2011年第3期321-324,共4页
The remarkable heredity of liquid aluminum modified by electric pulse (EP, EPM) has been uncovered. For better understanding from all aspects on the hereditary properties, the present research deals with the heredity ... The remarkable heredity of liquid aluminum modified by electric pulse (EP, EPM) has been uncovered. For better understanding from all aspects on the hereditary properties, the present research deals with the heredity destruction and the secondary EPM procedure. It is shown that the secondary EPM is capable of preventing the heredity reduction of EP-modified liquid aluminum, and that the final refining effect has a close relationship with technique parameters of the secondary EPM. Furthermore, at a certain superheated temperature depending on the initial EPM technique parameters, the heredity relationship of EP-modified liquid aluminum can be cut off during remelting. High temperature X-ray diffraction combining with the DSC tests also indicates that the EP-induced structure changes have almost disappeared at an elevated remelting temperature. 展开更多
关键词 electric pulse modification liquid aluminum heredity atomic cluster
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Heredity and gene mapping of a novel white stripe leaf mutant in wheat 被引量:1
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作者 LI Hui-juan JIAO Zhi-xin +9 位作者 Nl Yong-jing JIANG Yu-mei LI Jun-chang PAN Chao ZHANG Jing SUN Yu-long AN Jun-hang LIU Hong-jie LI Qiao-yun NIU Ji-shan 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2021年第7期1743-1752,共10页
Spotted leaf(spl)mutant is a type of leaf lesion mimic mutants in plants.We obtained some lesion mimic mutants from ethyl methane sulfonate(EMS)-mutagenized wheat(Triticum aestivum L.)cultivar Guomai 301(wild type,WT)... Spotted leaf(spl)mutant is a type of leaf lesion mimic mutants in plants.We obtained some lesion mimic mutants from ethyl methane sulfonate(EMS)-mutagenized wheat(Triticum aestivum L.)cultivar Guomai 301(wild type,WT),and one of them was named as white stripe leaf(wsl)mutant because of the white stripes on its leaves.Here we report the heredity and gene mapping of this novel wheat mutant wsl.There are many small scattered white stripes on the leaves of wsl throughout its whole growth period.As the plants grew,the white stripes became more severe and the necrotic area expanded.The mutant wsl grew only weakly before the jointing stage and gradually recovered after jointing.The length and width of the flag leaf,spike number per plant and thousand-grain weight of wsl were significantly lower than those of the WT.Genetic analysis indicated that the trait of white stripe leaf was controlled by a recessive gene locus,named as wsl,which was mapped on the short arm of chromosome 6 B by SSR marker assay.Four SSR markers in the F2 population of wsl×CS were linked to wsl in the order of Xgpw1079–Xwmc104–Xgwm508-wsl–Xgpw7651 at 7.1,5.2,8.7,and 4.4 c M,respectively and three SSR markers in the F2 population of wsl×Jimai 22 were linked to wsl in the order of Xgwm508–Xwmc494–Xgwm518-wsl at 3.5,1.6 and 8.2 c M,respectively.In comparison to the reference genome sequence of Chinese Spring(CS),wsl is located in a 91-Mb region from 88 Mb(Xgwm518)to 179 Mb(Xgpw7651)on chromosome 6 BS.Mutant wsl is a novel germplasm for studying the molecular mechanism of wheat leaf development. 展开更多
关键词 wheat(Triticum aestivum L.) MUTANT white stripe leaf(wsl) heredity gene mapping
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Structural heredity of TiC and its influences on refinement behaviors of AlTiC master alloy 被引量:4
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作者 王振卿 刘相法 +3 位作者 柳延辉 张均燕 于丽娜 边秀房 《中国有色金属学会会刊:英文版》 CSCD 2003年第4期790-793,共4页
Heredity of microstructure in AlTiC master alloy, grain refiners, was analyzed. It is found that, for morphologies and distributions of TiC particles, there are visible heredity which originates from raw materials or ... Heredity of microstructure in AlTiC master alloy, grain refiners, was analyzed. It is found that, for morphologies and distributions of TiC particles, there are visible heredity which originates from raw materials or processing methods of Al melt, and will ultimately be transferred to the solid state structure through the melt stage, and this phenomenon can cause hereditary influences on refinement: formation of chain like TiC morphology results in rapid refinement fading behavior; distribution of TiC along grain boundaries greatly reduces refinement efficiency. Controlling of structural heredity through proper selections of raw materials and processing parameters is of great importance in obtaining ideal microstructures and improving refinement behaviors of AlTiC master alloys. 展开更多
关键词 AlTiC合金 碳化钛 结构遗传 铝合金 精炼
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Effect of Typical Elements on the Heredity of Hot-rolled and Annealed Texture in Non-oriented Electrical Steel
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作者 孙强 李志超 +1 位作者 MI Zhenli DANG Ning 《Journal of Wuhan University of Technology(Materials Science)》 SCIE EI CAS 2017年第6期1446-1452,共7页
Macroscopic texture and microscopic orientation in hot-rolled and annealed sheets of nonoriented electrical steel were studied by XRD and EBSD techniques. The microstructure of hot-rolled and annealed samples was stud... Macroscopic texture and microscopic orientation in hot-rolled and annealed sheets of nonoriented electrical steel were studied by XRD and EBSD techniques. The microstructure of hot-rolled and annealed samples was studied by OM. Experimental results indicate that a strong heredity is observed in texture evolution between hot-rolled texture and annealed texture. Typical elements have a large effect on the recrystallization microstructure and texture distribution. The texture distribution through thickness is highly affected by recrystallization in hot rolled sheets. The recrystallization is boosted by Si and Al. Goss grains originate from cracked initial 〈100〉 columnar grains. {110}〈112〉, {112}〈111〉 and {111}〈112〉 grains are related to Goss grains. In subsurface lay of hot rolled sheets, Al can strengthen Goss texture and weaken copper-type texture. {112}〈111〉 texture and {110}〈112〉 texture are strengthened by Si. In the central layers, {100}〈001〉 texture and {111}〈121〉 texture are weakened by Al. {100}〈011〉 texture is increased by Al. Si can increase the proportion of γ-fiber texture and decrease that of {100}〈011〉 texture. In annealed texture, {100}〈001〉 texture and Goss texture are decreased by Al and Si. γ-fiber texture is increased by Si and {111}〈121〉 texture is preferentially increased by Al. The recrystallized grain size is increased and iron loss of annealed sheets is reduced by Al and Si, which means that the magnetic properties are optimized by the Al and Si content. 展开更多
关键词 texture heredity typical elements hot rolling ANNEALING electrical steel
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RESEARCH ON THE HEREDITY AND VARIATION OF THE PERUXIDASE ISOENZYME OF NEEDLES OF PINUS KORAIENSIS
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作者 Guan WeijunNortheast Forestry University 《Journal of Northeast Forestry University》 SCIE CAS CSCD 1993年第1期69-72,共4页
Through the polyacrylamide gel clectrophoresis analysis of thirty-two needle samples of ninty-years old pinus koraiensis in Harbin, seven typies of zone and distribution of the zone frequency, and some objective fact ... Through the polyacrylamide gel clectrophoresis analysis of thirty-two needle samples of ninty-years old pinus koraiensis in Harbin, seven typies of zone and distribution of the zone frequency, and some objective fact of heredity and variation were determined. These informations can be used as reference materials in the research of heredity and variation of pinus koraiensis. 展开更多
关键词 Pinus koraiensis Peroxidase isoenzyme ISOENZYME heredity and variation
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Undercooling heredity of Cu_(70)Ni_(30) melt solidified in non-catalytic nucleation coated mould
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作者 郭学锋 刘勇长 +1 位作者 杨根仓 邢建东 《中国有色金属学会会刊:英文版》 CSCD 2000年第4期481-484,共4页
A new concept of undercooling heredity is developed to evaluate the undercooling ability in a non catalytic nucleation coated mould, where alloy melts were highly undercooled previously. Before the heredity experiment... A new concept of undercooling heredity is developed to evaluate the undercooling ability in a non catalytic nucleation coated mould, where alloy melts were highly undercooled previously. Before the heredity experiment a non catalytic nucleation composite glass lined coating (B F) was prepared on the inner surface of mould and the Cu 70 Ni 30 alloy was selected to perform undercooling experiment in the B F non catalytic coating mould. Its ratio of undercooling heredity was 0.76. The results prove that the B F coating is an ideal non catalytic media for purified Cu 70 Ni 30 alloy melts due to its small contact angle between the melt and coating layer. Considering that various microstructures form under different undercoolings, two critical undercoolings, Δ T 1 and Δ T 2, and their corresponding microstructures of Cu 70 Ni 30 alloy are well defined. Moreover, it is found that the manned trigging solidification in the non catalytic coating mould could be used to get directional undercooling dendrite structure while the melt undercooling is larger than the critical undercooling Δ T 2. 展开更多
关键词 CU 70 NI 30 alloy non catalytic NUCLEATION coating UNDERCOOLING heredity
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Heredity Analysis and Gene Mapping of Bruchid Resistance of a MungbeanCultivar V2709
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作者 SUN Lei CHENG Xu-zhen WANG Su-hua WANG Li-xia LIU Chang-you MEI Li XU Ning 《Agricultural Sciences in China》 CAS CSCD 2008年第6期672-677,共6页
Bruchid is a serious insect pest of mungbean [Vigna radiata (L.) Wilczek] and can inflict serious loss. A resistant variety from India, V2709, was crossed with a susceptible variety, Zhonglti 1, from the World Veget... Bruchid is a serious insect pest of mungbean [Vigna radiata (L.) Wilczek] and can inflict serious loss. A resistant variety from India, V2709, was crossed with a susceptible variety, Zhonglti 1, from the World Vegetable Center, Asian Vegetable Research and Development Center (AVRDC). Segregation of the F2, BC1F1, and F3 populations showed that bruchid resistance of V2709 is controlled by a single dominant locus. To find molecular marker linked with the resistant locus, 63 randomly amplified polymorphic DNA markers and 113 sets of SSR/STS primers were used in a bulked segregant analysis. Two of the markers, OPC-06 and STSbr2, were found to be linked with the locus (named as Br2). Further analysis suggested that the genetic distances between these two markers and Br2 were 11.0 and 5.8 cM, respectively. 展开更多
关键词 mungbean V2709 bruchid resistance heredity analysis STS RAPD
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Polymorphism and heredity of cpDNA and mtDNA in the Section Leuce of Populus
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作者 CUI Bin-bin XU Zhao-he +3 位作者 JIN Xiao-jie FENG Hui LI Yun DU Ning-xia 《Forestry Studies in China》 CAS 2011年第3期218-224,共7页
The chloroplast DNA (cpDNA) and mitochondrial DNA (mtDNA) of 16 Populus species (Section Leuce) and their F1 generation were detected using PCR-RFLP technique. The results show that cpDNA in the F1 generation of... The chloroplast DNA (cpDNA) and mitochondrial DNA (mtDNA) of 16 Populus species (Section Leuce) and their F1 generation were detected using PCR-RFLP technique. The results show that cpDNA in the F1 generation of 22 hybrid combinations was inherited maternally, which supported the conclusions of the study of plasmid cytology. The mtDNA fragments amplified by PCR were consistent with the restriction maps in all hybrid combinations and no polymorphism was detected, indicating that the Section Leuce is highly conserved in mitochondrial gene sequences. These results provided direct evidence of maternal chloroplast inheritance in Populus tomentosa, P. bolleana, P. davidiana, P. adenopoda, P. tomentosa × P. bolleana, P. alba × P. glandulosa and P. alba × P. tomentosa. 展开更多
关键词 Section Leuce chloroplast DNA mitochondrial DNA POLYMORPHISM heredity
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On Heredity Factors of Parkinson’s Disease: A Parametric and Bayesian Analysis
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作者 Abolfazl Saghafi Chris P. Tsokos Rebecca D. Wooten 《Advances in Parkinson's Disease》 2018年第3期31-42,共12页
Hereditary is one of the key risk factors of the Parkinson’s disease (PD) and children of individuals with the Parkinson’s carry a two-fold risk for the disease. In this article, chance of developing the Parkinson’... Hereditary is one of the key risk factors of the Parkinson’s disease (PD) and children of individuals with the Parkinson’s carry a two-fold risk for the disease. In this article, chance of developing the Parkinson’s disease is estimated for an individual in five types of families. That is, families with negative history of the PD (I), families with positive history where neither one of the parents (II), one of the parents (III-IV), or both parents (V) are diagnosed with the disease. After a sophisticated modeling, Maximum Likelihood and Bayesian Approach are used to estimate the chance of developing the Parkinson’s in the five mentioned family types. It is extremely important knowing such probabilities as the individual can take precautionary measures to defy the odds. While many physicians have provided medical opinions on chance of developing the PD, our study is one of the first to provide statistical modeling and analysis with real data to support the conclusions. 展开更多
关键词 Parkinson’s Disease heredity BAYESIAN Estimation Maximum LIKELIHOOD Statistical Modelling
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“I Am the Family Face”:Darwinism,Heredity,and Atavism in Thomas Hardy’s Novels
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作者 QI Jun-jie 《Journal of Literature and Art Studies》 2019年第8期830-839,共10页
19th-century scientific breakthroughs and developments exerted huge influence upon Thomas Hardy’s literary work,among which Darwinian discourses as well as issues of heredity and degeneration have attracted considera... 19th-century scientific breakthroughs and developments exerted huge influence upon Thomas Hardy’s literary work,among which Darwinian discourses as well as issues of heredity and degeneration have attracted considerable critical attention.These scientific discourses can find their literary echoes in Hardy’s novels.Hardy’s characters are trapped by biological determinism and are therefore deprived of freewill,a devastating element which contributes to Hardy’s tragic vision.In Hardy’s early novels,Darwinism and other scientific issues are dealt with in a discursive manner,as is the case in A Pair of Blue Eyes;it is only in his late novels,especially in Tess of the d’Urbervilles and Jude the Obscure,that Hardy finally succeeds in incorporating Darwinian and hereditary discourses into his literary and philosophical conception and design.Thus to use a Darwinian term,this paper investigates the evolutionary process in which Hardy grows gradually adept in his artistic attempt to fuse the contemporary scientific discourses with his literary imagination,as well as in using scientific issues to mediate between authorial intention and critical expectation. 展开更多
关键词 DARWINISM heredity PEDIGREE atavism PATHOLOGY
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Shandong University Key Lab of Liquid Structure and Heredity of Materials, Ministry of Education of China
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《China Foundry》 SCIE CAS 2005年第3期226-227,共2页
关键词 Shandong University Co Key Lab of Liquid Structure and heredity of Materials Ministry of Education of China LAB
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Electrical resistivity and structural heredity of hypereutectic Al-Si alloy melt
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作者 李培杰 熊玉华 +1 位作者 张燕飞 曾大本 《中国有色金属学会会刊:英文版》 CSCD 2003年第2期329-334,共6页
The variation rule of the sensitive physical properties of Al 16%Si alloy melt was studied. The results show that within a certain temperature range, the electrical resistivity of Al 16%Si alloy melt changes abruptly ... The variation rule of the sensitive physical properties of Al 16%Si alloy melt was studied. The results show that within a certain temperature range, the electrical resistivity of Al 16%Si alloy melt changes abruptly in the forms of inflection points or platforms, which is ascribed to the changes in the internal microstructure of the melt. Based on this rule, the variation characteristics of microstructure can be revealed. When remelting and overheating Al 16%Si alloy to 1 050 ℃, the hereditary effects of different original structure on solidification structure after remelting can be eliminated, which can provide scientific foundation for properly controlling the hereditary factors transmitting the structural information of melt. 展开更多
关键词 过共晶铝硅合金 组织遗传 电阻率 熔炼 显微结构
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A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family 被引量:1
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作者 Xiu-Kun Cui Ke-Ke Zhu +8 位作者 Zheng Zhou Si-Min Wan Yi Dong Xuan-Ce Wang Jing Li Jing Zhang Hong-Mei Mu Lei Qin Yan-Zhong Hu 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2017年第5期684-690,共7页
AIM:To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family.METHODS:A Chinese family consisting of 20 cataract patients(including 9 male and 11 female... AIM:To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family.METHODS:A Chinese family consisting of 20 cataract patients(including 9 male and 11 female) and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree. Exon sequence was used for genetic mutation screening. In silico analysis was used to study the structure characteristics of connexin 46(CX46) mutant. Immunoblotting was conduceted for testing the expression of CX46.RESULTS:To determine the involved genetic mutations, 11 well-known cataract-associated genes(cryaa, cryab, crybb1, crybb2, crygc, crygd, Gja3, Gja8, Hsf4, Mip and Pitx3) were chosen for genetic mutation test by using exon sequencing. A novel cytosine insertion at position 1195 of CX46 c DNA(c.1194_1195ins C) was found in the samples of 5 tested cataract patients but not in the unaffected 2 individuals nor in normal controls, which resulted in 30 amino acids more extension in CX46Cterminus(cx46fs400) compared with the wild-type CX46. In silico protein structure analysis indicated that the mutant showed distinctive hydrophobicity and protein secondary structure compared with the wild-type CX46. The immunoblot results revealed that CX46 protein, which expressed in the aging cataract lens tissues, was absence in the proband lens. In contrast, CX50, alpha A-crystallin and alphaB-crystallin expressed equally in both proband and aging cataract tissues. Those results revealed that the cx46fs400 mutation could impair CX46 protein expression. CONCLUSION:The insertion of cytosine at position 1195 of CX46 cD NA is a novel mutation site that is associated with the autosomal dominant cataracts in this Chinese family. The C-terminal frameshift mutation is involved in regulating CX46 protein expression. 展开更多
关键词 connexin 46 cataract congenital ocular lens autosome dominant heredity genetic mutation
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