Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa

Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of nine children, four died at a young age from unknown causes. Three children were affected by retinitis pigmentosa, two cases were syndromic. A history of nyctalopia was found in all three affected children. The mean age of onset of decreased visual acuity was 6.6 years. Patient 1 affected by syndromic retinitis pigmentosa had an extraocular sign of cystic dilation of the main bile duct. Patient 2 had myoclonic epilepsy, psychomotor retardation, and the molar tooth sign on cerebral MRI (highly suggestive of Joubert syndrome). The third child had isolated retinitis pigmentosa. Ophthalmological examinations (fundus examination, electroretinogram, and visual evoked potentials) and pediatric examinations in the remaining two children were normal. Discussion and Conclusion: Retinitis pigmentosa is a rare degenerative disease that can be associated with several other malformations, highlighting the importance of screening for associated conditions. It presents a grim functional prognosis and a life prognosis dependent on extraocular manifestations. Molecular biology (karyotyping, next-generation sequencing) could have identified the implicated genes and allowed for a formal diagnosis and genetic counseling.

A Theory of Bio-Quantum Genetics

The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large.

The Study on the Heredity and Parental Correlation of the Oil Content of F_5 Generation at High-oil Content Soybean

[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.

Naturalistic Elements in The Egg

The purpose of the study is to analyze the naturalistic elements in The Egg, which is taken from the collection of short stories, The Triumph of the Egg. The study states the ideology and technique of naturalism and then exams how naturalistic elements are revealed in the fiction. Then it comes to the conclusion that the family is defeated by the egg and the life of human beings is under control of complicated forces from both inside and outside.

Phenotype Observation and Variation Analysis of F_2 Generation of Ion Implanted Chili Pepper Seeds

[Objective]The aim was to investigate inheritance of the mutagenic properties caused by ion implantation from F1 to F2 generation in chili pepper.[Method]Chili pepper seeds were implanted with different ion combinations at different doses,and the F1 generation seeds of five groups in which biological mutation occurred were selected to sow in the field.Then the main phenotype changes in F2 generation were observed,the biochemical changes caused by ion implantation were analyzed by determination of peroxidase isozyme.[Result]Seed implanted with 9×1011 P2＋/cm2 and 1×1012 Cu2＋/cm2（No.21）on its both sides could maintain the superiority in yield per plant to F2 generation,while the mutagenic effects of F1 generation in other groups were not inherited by the F2 generation.[Conclusion]The prominent biological characters induced in the seeds of group No.21 were relatively inherited,so the seeds were worth further breeding.

Research on Genetic Physiological Ecology of Precious Species: Toona ciliata and Toona ciliata var. pubescens

Toona ciliata and Toona ciliata var. pubescens are timber species of national second-class protective plants. In China, Toona ciliata and Toona ciliata var.pubescens distribute sporadically with small population size but with great development potential. Plus selection on phenotype of Toona ciliata and Toona ciliata var.pubescens, molecular genetic marker of Toona ciliata var. pubescens, research progress in physiology and ecology of Toona ciliata and Toona ciliata var.pubescens were summarized in this paper. Suggestions and prospect forecast were proposed for relative research and utilization.

Heredity of Aluminum Melt Caused by Electric Pulse Modification (Ⅰ)

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.

Identification of a Cytoplasmic Male Sterile Line NEA in Brassica napus L.and Its Genetic Studies

Male sterile NEA plants were identified in progenies of the radiated 92P x Aggregate-silique in Brassica napus L. in 1993. Their progeny plants from test crossing and open pollination were 100% male sterile. The double-low male sterile lines JL-4 and JL-18 were bred through successive backcrossing of the double -low variety No.4 and No. 18 in Brassica napus L.to NEA. Restorer lines 6720 and 6722 with significant heterosis in F1 were developed. The results from investigating the restoring-ntaintaining relationship and inheritance of the restorer gene indicated that JL-4 and JL-18 were different from both PolCMS and Shan 2A type, and their restorer gene was controlled by a pair of dominant genie genes.

The role of heredity in pterygium development

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.

Advances in salinity tolerance of soybean: Genetic diversity, heredity, and gene identification contribute to improving salinity tolerance

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.

f-heredity knowledge and f-heredity mining

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.

Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds

AIM： To establish and validate the mutation testing for identification and characterization of hereditary non-polyposis colorectal cancer （HNPCC） in suspected Chinese patients. METHODS： Five independent Chinese kindreds with HNPCC fulfilling the classical Amsterdam criteria were collected. Genomic DNA was extracted after informed consent was obtained. The coding region of hMSH2 and hMLH1 genes was detected by polymerase chain reaction （PCR） and denaturing high-performance liquid chromatography （DHPLC）. Mutations identified in the proband by DHPLC were directly sequenced using a 377 DNA sequencer, analyzed with a basic local alignment tool （BLAST）, and tested in the corresponding family members by direct DNA sequencing. RESULTS： Mutations were identified in two Chinese HNPCC kindreds. One was the missense mutation of hMSH2 c.1808A→G resulting in Asp 603 Gly identified in the proband of the fifth HNPCC （HNPCCS） kindred. In the HNP5 kindred, three family members were found to have this mutation and two of them had colorectal cancer. The other mutation of hMLH1 c.1882A→G was identified in the HNP2 kindred＇s proband, which might be the nonsense mutation analyzed by BLAST. CONCLUSION： Pedigree investigation and mutation testing of hMSH2 and hMLH1 are the practical methods to identify high-risk HNPCC patients in China.

Heredity of Aluminum Melt by Electric Pulse Modification (Ⅱ)

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.

A Review of Factors Influencing Intramuscular Fat Content in Porcine Meat

Intramuscular fat （IMF）, an important flavor precursor of porcine meat, is closely related to pork quality traits such as pH, color, tenderness, water-holding capacity （WHC） and juiciness, and thus is one of the important factors affecting pork quality. Pork IMF content is not only associated with swine breed on heredity, but also influenced by the alteration of nutrients in diet. These may give a possibility for researchers to improve the IMF content and pork quality by their work on swine breed or heredity, and nutrition regulation in diet. Therefore, this article summarizes the effects of swine breed and nutrition regulation on IMF content briefly to provide some information for future researches.

Electromagnetic continuous casting by imposing multi-electromagnetic field

In order to obtain cast metal of high quality, an investigation was carried out by simultaneous imposition of multi electromagnetic fields from the outside of a cold crucible copper mold. Sn 4.5%Pb as a simulator of high melting point metal was continuously cast under different conditions. The results show that multi electromagnetic fields can eliminate surface defects, and coarse columnar grains of the solidification structure is turned into equiaxed crystal with the increase of magnetic flux density. Moreover, finer equiaxed crystal structure is obtained when rapidly solidified sheet is fed into the mold during continuous casting.[

Heredity of clusters in the rapidly cooling processes of Al-doped Zr_(50)Cu_(50)melts and its correlation with the glass-forming ability

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.

Further study on heredity of liquid aluminum modified by electric pulse

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.

A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family

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.

Heredity and gene mapping of a novel white stripe leaf mutant in wheat

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.

Genetic Homozygosis of Resistance of Common Wild Rice (Oryza rufipogon) against Brown Planthopper

[ Objective] The stability of resistance heredity of common wild rice against brown planthopper was studied to screen wild rice germplasm with stable resistance, so as to provide resources for rice breeding with resistance against brown planthopper. [ Method] A total of 1 591 accessions of common wild rice, collected from 46 proterozoic growth locations of Guangxi, were screened to analyze resistance against brown planthopper, and genetic homozygosis in their offspring was detected using bag-selfing or anther culture methods. [ Result] The results showed that most of common wild rice germplasm were heterozygotic, and growth habit and awn of their first self-bred generation showed segregation. Among 1 591 accessions of common wild rice, only 30 accessions showed third to fifth grades of resist- ance against brown planthopper, and most of them showed fifth grade of resistance. Among selfing offspring of 11 resistant materials, the populations from Z1 to Z3 showed segregation of resistant genes, while some materials showed stable resistance in Z4. Out of 11 accessions of materials, resistance of five accessions increased from third grade to first, second and third grades; four accessions increased from fifth grade to first, second and third grades ; two accessions increased from fifth to third grade. Anther culture results showed that 125 accessions of callus from independent origins were obtained after induction by in vitro culture of 6 000 anthers; eight clusters of diploid and two clusters of haploid green seedlings were differentiated, with induction rate of callus as 2.0% and differentiation rate of green seed- lings as 6.4%. Out of eight offspring of anther culture, six showed fifth grade of resistance against brown planthopper and two showed third grade of resistance. [ Conclusion] The stable highly-resistant resources could be obtained and resistance level of common wild rice could be enhanced through bag-selfing and multigeneration identification of resistance against brown planthopper. Anther culture is beneficial to promote genetic homozygosis of resistance of common wild rice against brown planthopper and shorten the screening time.