体色异常褐牙鲆皮肤色素及鳞片发育的形态学研究(英文)

本文观察比较了体色正常及体色异常褐牙鲆 (Paralichthysolivaceus)皮肤中黑色素胞和鳞片的发生及演变过程。结果显示仔鱼鱼体两侧皮肤中最先出现星状幼体型黑色素胞 ,随着变态发育 ,有眼侧皮肤中成体型黑色素胞逐渐替代幼体型黑色素胞 ;而无眼侧皮肤中 ,幼体型黑色素胞逐渐退化崩解 ,成体型黑色素胞不出现 ,无眼侧皮肤逐渐失去色素变为白色。体色异常现象出现于变态后期 ,白化和黑化现象几乎同时发生。白化个体有眼侧皮肤中成体型黑色素胞不能正常替代幼体型黑色素胞 ,逐渐失去色素形成白色斑块。黑化个体无眼侧皮肤中成体型黑色素胞则非正常地出现 ,逐渐替代幼体黑色素胞形成黑斑。约 30日龄变态完成时 ,体色异常现象已经显著 ,已能明显区分体色正常和异常个体。 6 0日龄左右 ,幼鱼皮肤开始长出形态较为原始的圆鳞。体色正常个体有眼侧皮肤上的圆鳞会逐渐发育成栉鳞 ,无眼侧则维持圆鳞。对比分析体色异常个体的鳞片形态 ,发现有眼侧白化部位的鳞片仍为圆鳞 ,而无眼侧黑化部位的鳞片则发育为栉鳞。同时 ,通过对体色正在恢复中的白化牙鲆的鳞片观察表明 ,伴随着白化部位色素的恢复 ,该部位的圆鳞会逐渐转变为栉鳞。

四川短尾鼩体色异常一例

2014年10月25日,作者在四川省成都市龙泉驿区龙安村四川师范大学成龙校区旁（104°12′31.46″E,30°33′38.56″N）通过铗日法捕获到1只体色异常的四川短尾鼩Anourosorex squamipes个体。将其带回实验室进行测量、解剖,并放于-20℃保存。现存于四川师范大学生命科学学院生态学研究室。

牙鲆苗种互残和体色异常的对策

在人工繁殖、饲育的牙鲆苗种中,经常出现相互残杀和体色异常现象。前者影响小个体鱼的生长及成活,后者则降低了商品价值,总之,不同程度地影响了育苗的效益。我们根据近几年牙鲆养殖的生产和实践,提出了相应的解决办法。

鱼类体色成因及调控研究进展

随着经济的快速发展和生活水平的不断提高，人们对高档鱼类的需求也日益增加。受自然条件的限制和人为因素的影响，野生鱼类捕获量在急剧下降，为解决供需矛盾，水产养殖业应运而生，但在高密度集约化养殖条件下，人工养殖的鱼类，其体色异常和肉质下降等问题频频出现，远不如野生品种。发生体色异常的鱼类以前是无鳞鱼，如黄鳝（Monopterus albus）、黄颡鱼（Pelteobagrus fulvidraco），目前发现的有鳞鱼类，如武昌鱼（Megalobrama amblycephala）、鲤鱼（Cyprinus carpio）等也经常发生体色异常。养殖鱼类体色异常不仅降低了其商品价值，也给养殖者带来了巨大的经济损失。

养殖鱼类体色改良研究进展

简要概括了影响鱼类体色的因素、养殖鱼类体色改良的方法,希望给养殖鱼类体色改良研究提供参考。

全植物蛋白饲料对胡子鲶体色的影响

人丁养殖条件下，鱼类的体色问题屡见不鲜（冷向军等，2006）。养殖胡子鲶（Clarias fuscus）对体色要求较高（唐精等，2007），近年来，常出现一些体色问题，比如：鱼体发黑，变白，上色不均匀等等。最典型的体色异常，俗称“沙皮”化，表现为鱼体着色异常，鱼背、腹部均通体金黄色，并布满黑色细点，

饲料添加剂对水产动物体色的调控

在综合近年来相关资料的基础上,重点阐述了饲料添加剂对人工养殖水产动物体色的调控作用。

荧光原位杂交技术在自然流产胚胎组织染色体分析中的应用探讨

目的探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在自然流产胚胎组织中染色体分析的应用价值。方法运用FISH技术对临床102例自然流产胚胎组织进行检测,并对其中24例标本同时进行细胞培养和核型分析。结果 FISH检测共发现46例染色体异常,异常率为:45.09%(46/102);异常类型有:单体型、三体型、三倍体型及其嵌合体、性染色体异常嵌合型。24例染色体核型分析结果中,17例(70.83%)与FISH结果相符,另外检出FISH方法所不能覆盖的染色体异常7例(29.17%),分别为三体型5例、染色体结构异常2例。结论大部分的自然流产胚胎组织异常染色体结果可通过FISH技术检出,该技术具有检测速度快,实验成功率高等优点。但基于FISH技术探针检测区域的局限,研究中仍有部分流产胚胎组织异常染色体结果需通过核型分析检出,提示核型分析在有关研究中仍具重要作用。

牙鲆白化病的诱因及预防

在牙鲆苗种培育过程中经常遇到的问题是出现高比例的体色异常苗种，即有眼侧的局部出现白化现象，严重者头部及躯干部完全白化，这种体色异常的鱼商品价值极低，同时也不符合放流标准。笔者于北戴河发现在牙鲆育苗过程中如果养殖方法不当，则容易出现较高比例的牙鲆白化苗，给养殖生产带来巨大损失。现将有关牙鲆白化病的诱因及预防方法介绍如下，供从事牙鲆养殖业的人员参考。

Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families:Implications for genetic testing

AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds were tested for mutations using conformation sensitive gel electrophoreses, direct sequencing and also screening for genomic rearrangements applying multiplex ligation-dependent probe amplifi cation (MLPA). RESULTS: Eighteen germline mutations (50%) were identifi ed, 9 in MLH1 and 9 in MSH2. Sixteen of these sequence alterations were considered pathogenic, the remaining two were non-conservative missense alterations occurring at highly conserved functional motifs. The majority of the defi nite pathogenic mutations (81%, 13/16) were found in families fulfilling the stringent Amsterdam Ⅰ/Ⅱ criteria, including three rearrangements revealed by MLPA (two in MSH2 and one in MLH1). However, in three out of sixteen HNPCC-suspected families (19%), a disease-causing alteration could be revealed. Furthermore, nine mutations described here are novel, and none of the sequence changes were found in more than one family.CONCLUSION: Our study describes for the f irst time the prevalence and spectrum of germline mismatch repair gene mutations in Hungarian HNPCC and suspected-HNPCC families. The results presented here suggest that clinical selection criteria should be relaxed and detection of genomic rearrangements should be included in genetic screening in this population.

半滑舌鳎体色白化相关突变位点的鉴定

对体色相关通路基因的9个错义突变位点进行测序调查,在体色黑化、体色白化和体色正常的半滑舌鳎小样本群体中发现3个突变位点与体色白化存在显著性相关,进一步通过扩大样本验证,显示B型内皮素受体第160位的C/T位点(ertB-160-C/T)与体色白化呈极显著性相关,酪氨酸酶第473的G/A位点(tyr-473-G/A)和花生四烯酸5-脂氧合酶的第1 178位的C/T位点(alox5-1178-C/T)与体色白化呈显著性相关。这3个突变位点分别位于蛋白Periplasmic_Binding_Protein_type1、Tyosinase C-terminal和Lipoxygenase结构域。qRT-PCR检测表明:ertB在白化半滑舌鳎中有眼侧正常和白化皮肤表达没有显著差异,而在无眼侧皮肤的表达显著高于有眼侧皮肤;在白化半滑舌鳎中tyr在有眼侧正常和白化皮肤的表达水平均显著高于无眼侧;白化半滑舌鳎中无眼侧alox5的表达水平均显著高于有眼侧,有眼侧白化区alox5的表达水平明显高于有眼侧正常皮肤。这些与半滑舌鳎养殖群体体色白化相关的突变位点可为今后半滑舌鳎的体色选育提供分子基础。

Large-vessel thrombosis in intestinal Behet's disease complicated with myelodysplastic syndrome and trisomy 8

Behet's disease is characterized by recurrent oral ulcers, genital ulcers, uveitis and skin lesions. Myelodysplastic syndrome (MDS) is characterized by problems due to ineffective hematopoiesis. Several studies have identified a relationship between MDS and Behet's disease, especially intestinal Behet's disease. Trisomy 8 seems to play an important role in these disorders as well. The present case was a 24-year-old woman who had a huge tonsil ulcer with initial symptoms of odynophagia and intermittent fever. We also noted folliculitis on her upper back. Five days later, she began to experience diarrhea and abdominal pain. Abdominal computed tomography and subsequent surgery revealed ileum perforation and enterocolitis with multiple ulcers. Later, she was admitted again for a vulvar suppurative ulcer and suspicious Bartholin's cyst infection. The patient's clinical presentations met the criteria for Behet's disease. Six months after the bowel perforation event, we noted the development of pancytopenia in a routine laboratory examination. All the examinations led to the diagnosis of MDS with trisomy 8. The most unusual finding was that multiple large vessel thrombi developed during follow-up. Previous studies have suggested that trisomy 8 in MDS leads to concurrent intestinal Behet's disease. Moreover, the inflammatory and immune genes related to thrombus formation are overexpressed in cases of MDS with trisomy 8. Trisomy 8 must play a role in thrombosis. Further studies are needed to help clarify the pathophysiology and pathogenesis of these disorders.

Cytogenetic and Clinical Analysis of 340 Chinese Patients with Primary Amenorrhea

Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification,and if specific staining for certain portions of the chromosome was necessary,C banding was used.The clinical data were recorded by physical examination and ultrasound scanning.Results Karyotype analysis of the 340 patients revealed that 180(52.94%) patients had normal female karyotypes and 160(47.06%) patients had abnormal karyotypes.The abnormal karyotypes included abnormal X chromosome(150 patients),mosaic X-Y chromosome(4 patients),abnormal autosome(5 patients),and X-autosome translocation(1 patient).The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus(95.9%),invisible secondary sex features(68.8%),little or absent ovary(62.6%),and short stature(30.0%).The incidence of short stature in patients with X chromosome aberration(46%,69/150) was significangly higher that in patients with 46,XX(9.44%,17/180) as well as 46,XY(6.67%,3/45;χ2=146.25,P=0.000).All primary amenorrhea patients with deletion or break-point at Xp11.1-11.4 were short statures.Conclusions One of the main reasons of primary amenorrhea is choromosome abnormality,especially heterosome abnormality.It implies the need to routinely screen chromosomal anomalies for such patients.There might be relationship between Xp11.1-11.4 integrity and height improvement.

PRE-EXPOSURE OF MICE TO LOW DOSE OR LOW DOSE RATE IONIZING RADIATION REDUCES CHROMOSOME ABERRATIONS INDUCED BY SUBSEQUENT EXPOSURE TO HIGH DOSE OF RADIATION OR MITOMYCIN C

The phenomenon of cytogenetic adaptive and cross-adaptive response induced by low dose irradiation and chemical mutagen in mice is described. We found, firstly, that adaptation can be induced by acute low dose Xirradiation (0-100 mGy). Secondly, a cross-adaptation can occur between X-irradiation and mitomycin C (MMC). And finally, mice pre-exposed to chronic low dose rate￣(60)Co-Gamma irradiation (0-226.0 mGy/day) are less susceptible to chromosome aberration induced by subsequent acute higher Xirradiation. Therefore, our data suggest that radioadaptive response depends on dose, dose rate and time interval. Possible mechanisms are also discussed.

商用挠足虫生产的经济可行性

在过去的30年间，与其它常见的诸如丰年虫和轮虫等活饵品种相比，挠足虫已被证明是海水鱼仔鱼的最好的活饵。采用具有更好生化成分的挠足虫作为活饵，可增加（仔鱼）存活率，改善生长条件，减少体色异常，有助于繁殖培育“新”的海水有鳍鱼品种。然而，挠足虫尚未有商业性的养殖生产，因此还没有在水产养殖业中得到广泛使用。挠足虫大规模养殖生产的瓶颈之一是缺乏商用挠足虫生产的经济可行性方面的知识。

Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

Chromosomal alterations are the main causes of genetic diseases. One of the characteristics of certain genetic syndromes is ID （intellectual disability） presented by the individual in varying degrees. The study of the ID, its etiology, association or not with chromosomal abnormalities and a clinical diagnosis associated with the examination of karyotype are important aspects to consider when providing genetic counseling for families. Due to the lack of similar studies and of easy access to cytogenetic services for the Amazonian population, this study aimed to contribute to the advancement of this line of study in the state, analyzing the karyotype of individuals with ID, not Down Syndrome treated at the APAE-Manaus and identifying the main types of chromosomal alterations in the individuals analyzed. Analyzes were performed of the clinical diagnosis through investigation of the data from the interview and medical records as well as analysis of the karyotype of 31 patients with non-Down syndrome ID, attended in the APAE-Manaus. Of these subjects, 20 were female and 11 male. The results showed only 2 cases of chromosome abnormalities are detectable by classical cytogenetics, one of mosaic Turner syndrome and one a heterochromatic variant. It is therefore necessary to complement the study with the addition of molecular techniques for the investigation of microdeletions and/or other alterations not detectable through the banding technique, mainly for individuals whose dysmorphisms indicate a suspected syndrome.

Differential Expression of Wnts, β-catenin and E-cadherin in hEFs and Normal, Abnormal Karyotype hES Cells during Culture in vitro

Human embryonic fibroblasts （hEFs） can well maintain the pluripotency in human embryonic stem cells （hESs）. However, recent research and reports indicated that a few of hES cell lines acquired genomic alteration during long-term culture of hES cells in vitro. This will directly restrict the therapy use of hES cells. Wnts are secreted lipid-modified signaling proteins that influence multiple processes ranging from cell proliferation to stem cell loss. Activation of Wnt signaling in many tissues has also been associated with cancer. Unchecked Wnt signaling and loss of cadherin expression can promote tumorigenesis. In this study, we found the caryotype of one hES cell line chHES-3 changed with duplication of 1 p32-1p36 area after 34 passages. The results of RT-PCR indicated Wnt7a was expressed in hEFs after culture normal karyotype hES cells, but not expressed in control and abnormal karyotype hES cells. Wnt3 was expressed in hEFs after culture abnormal karyotype hES cells, not expressed in control and normal karyotype hES cells. Wnt3, Wnt9a and WntlOb were detected weakly expression in normal hES cells, but higher in abnormal hES cells. At the same time, Wnt3a, Wnt4, Wnt5b, Wnt7a, Wnt8b and Wnt11 were expressed and E-cadherin was not tested in abnormal hES cells compared with normal hES cells. All that indicated Wnt7a was need for culture normal karyotype hES cells and Wnt3 was need for culture abnormal karyotype hES cells on hEFs. Wnt3, Wnt9a and WntlOb high expression in hES cells and absence of E-cadherin may cause hES cells karyotype change.