海南省鼻咽癌三个高发家系报告

本文调查了鼻咽癌聚集的10个家系。在3个高发家族中,家系1两代11人中有4 人患鼻咽癌;家系2同代6人中有3人患鼻咽癌;家系3同胞5人中有3人患鼻咽癌。我们从肿瘤流行病学、病理类型及其血缘关系作了分析,认为鼻咽癌具有垂直和水平的家族发生 倾向,支持鼻咽癌有遗传倾向的看法。 Abstract:We studied the genealogy with nasopharyngeal carcinoma(NPC)and found 25 patients (18 males,7 females)with NPC in 10 families,aged from 13 to 60.The bron of the same parents were 12 patients,accounting for 48% among these patients.Both male and female patients were found in five families;the patients in four families were all male;there were all female patients in the only one family;At the sametime,21 patients with NPC were the first kinsfolk in 8 families,accounting for 84%.Besides,we looked into 3 families with high incidence;there were 4 out of 11 family members suffering from NPC in the first genealogy in 2 generations;3 of 6 brons of the same parents were ill with NPC in the third genealogy.Based on the studies of cancer epidemiology,pathology and genealogy,our results suggested that the family incidence of NPC had vertical and horizontal thndency,and that genetic factors played a decisive role in NPC incidence.     

遗传多代的13/21罗伯逊易位家系的调查研究

一个13/21染色体罗伯逊易位家系中, 易位染色体携带者4人,易位型先天愚 型患者3人,易位染色体至少已经遗传了4代。该家系中有同性双生子的聚集现象。讨论 了罗伯逊易位的遗传机理。 Abstract:A pedigree with 13/21 robertsonian translocation was reported.There were four carriers and three patients with Downs syndrome in the padigree.The Robertsonian chromosome translocation had been transmitted at leart for four generations.A family aggregation of monozygotic twines was found in this pedigree too.The inheritance principle of robertsonian translocation was discussed and that the origin of monozygotic twins may be genetically involved were considered.     

X连锁隐性遗传性Marinesco-Sjögren综合征一家系五代11例报告

报告一个Marinesco-Sj?gren综合征(MSS)的大家系.通过家系调查和查体发现MSS患者11例,均为男性,已死亡7例,死亡年龄为15～20岁.患者均具有先天性白内障,智能发育迟滞、小脑性共济失调及骨骼畸形等征候.存活4例还伴有FSH水平增高,LH及T水平降低.结论认为该MSS家系为X连锁隐性遗传。 Abstract:A big family of Marinesco-Sjögren Syndrome with X-Linked recessive inheritance is reported in the paper.We discovered 11 Patients with MSS by family line inheritance and somatoscopy.These Patients were aged from 15 to 20 years old when they died with clinic feature of congenital cataract,mental retardation,cerebellar ataxia and skeleton deformity;4 patients survived,but showed high level of FSH plasme and low level of LH and T.is concluded that this is a MSS family X-Linked recessive inheritance.     

Genomic variation in the hybrids of white crucian carp and red crucian carp: evidence from ribosomal DNA

In this study, we conducted a cross of white crucian carp(♀)×red crucian carp(♂)(WR), and characterized the morphology, reproduction and genetics of the progeny. Different from parents, WR with the gray color showed the hybrid morphological traits of both parents. WR possessed normal gonads producing mature eggs or sperm, and exhibited high fertilization rate(90.2%) and high hatchery rate(80.5%), which contributed to produce and enlarge the population. WR with the same DNA content as parents was a diploid fish with 100 chromosomes(2n=100). Amplified ITS of 45 S r DNA, in WR the sequences consisting of 884 bp bases of the entire ITS-1 region, 5.8 S region, and entire ITS-2 region. The sequences showed high similarity between WR and its parents and leaned towards male inheritance. In WR, NTS of 5S r DNA consisted of three length types with total 654 bp bases. From sequence analysis of NTS, WR shared 94.2% and 95.1% similarities with their female and male parent, respectively. Sequence analysis of ITS and NTS revealed that there existed recombination and variation in the hybrid progeny, which was the genetic base for adaptation and speciation. In conclusion, we obtained WR from hybridization and it exhibited hybrid traits in morphology and variation in genetic composition showing essential difference with its parents. The obtainment of WR has important significance in fish genetic breeding.     

Cloning, mapping and mutation analysis of human gene GJB5 encoding gap junction protein β-5

By homologous EST searching and nested PCR a new human gene GJB5 encoding gap junction protein β-5 was identified. GJB5 was genetically mapped to human chromosome 1p33-p35 by FISH. RT-PCR revealed that it was expressed in skin, placenta and fetal skin. DNA sequencing of GJB5 was carried out in 142 patients with sensorineural hearing impairment and probands of 36 families with genetic diseases, including erythrokeratodermia (5 families), Charcot-Marie-Tooth disease (13), ptosis (4), and retinitis pigmentosa and deafness (14). Two missense mutations (686A→G, H229R; 25C→T, L9F) were detected in two sensorineural hearing impairment families. A heterologous deletion of 18 bp within intron was found in 3 families with heredity hearing impairment, and in one of the 3 families, a missense mutation (R265P) was identified also. But the deletion and missense mutation seemed not segregating with hearing impairment in the family. No abnormal mRNA or mRNA expression was detected in deletion carriers by RT-PCR analysis in skin tissue. Mutation analysis in 199 unaffected individuals revealed that two of them were carriers with the same 18 bp deletion.     

青少年白发的皮纹学研究

本文对203名青少年白发患者的皮纹进行了分析,并与216名正常对照组个体作了比较.发现青少年白发组的As和Wd出现率以及A/A和L/W的对应频率均显著低于正常对照组;青少年白发组女性的a-bTRC值、男性变异型掌褶纹的出现率、10指同斗频率、右手Ⅰ2区及左手Hy区的花纹出现率均显著高于正常对照组的相应出现率.说明青少年白发者的皮纹可能有自身的遗传特征。 Abstract:This paper sought to analyze the dermatoglyph of 203 cases with juvenile poliosis,and make an individual contrast with the control group of 216 normal juveniles.It was found that the incidence of As and Wd in the group of juvenile poliosis and the correspondence rate of A/A and L/W were obviously lower than those of the normal contrast group,while a-b TRC value in the female patients with juvenile poliosis and the incidence of abnormal palmprint in the male, the frequency of all loop whorl,and palm patterns in the I2 area of the right hand and in the Hyarea of the left hand were evidently higher than the corresponding incidences of the normal contrast group.Dermatoglyph of the juvenile poliosis has its own heredity.     

Anatomy and ontogeny of unisexual flowers in dioecious Woonyoungia septentrionalis （Dandy） Law （Magnoliaceae）

Woonyoungia septentrionalis （Dandy） Law is aceae. The floral morphology and structure of the species a dioecious species with unisexual flowers in Magnoliare conspicuously different from other species and are important to the study of floral phylogeny in this family. The floral anatomy and ontogeny were investigated to evaluate the systematic position of W. septentrionalis, using scanning electron microscopy and light microscopy. All of the floral organs are initiated acropetally and spirally. The carpels are of conduplicated type without the differentiation of stigma and style. The degenerated stamens in the female flowers have the same structures as the normal stamens at the earlier developmental stages, but they do not undergo successive development and eventually degenerate. The male floral apex was observed to have the remnants of carpels in a few investigated samples. As the bisexual flower features could be traced both in the male and female flowers in W. septentrionalis, it suggests that the flower sex in Magnoliaceae tends toward unisexual. As well as the unisexual flowers, the reduced tepals and carpels and concrescence of carpels conform to the specialized tendency in Magnoliaceae, which confirms the derived position of W. septentrionalis in this family. As the initiation pattern of floral parts of W. septentrionalis is very similar to other species in this family, it needs further investigation and especially comparison with species in Kmeria to evaluate the separation of Woonyoungia.     

Anatomical and morphological parameters of leaves and leaf petioles of Actinidia deliciosa

Differences in anatomy and morphology of the kiwifruit leaves and leaf petioles might play a considerable role in the sex-determination. Three months after bud break (June), the kiwifruit leaves of both male and female plants, grown on the vegetative and generative shoots showed different leaf area (128.6 ± 13.45 cm2 in male and 104.5 ± 4.02 cm2 in female plants) and shape. The most frequently leaf shape was determined as "folium cordatum" and "folium rotundato-cordatum". Higher values of total leaf thickness of the female leaves (190 ± 3.84 μm) in comparison to male leaves (174 ± 3.52 μm) were estimated, resulting in the thicker adaxial leaf epidermis and especially in thicker palisade parenchyma in female leaves (136 ± 2.76 μm in comparison to 104 ± 1.61 μm in male leaves). Typically bifacial leaves were observed in both male and female leaves. Anomocytic stomata in hypostomatic leaves were found. The reticulate venation appears to be the main type of leaf venation. Stalked stellate multicellular trichomes on the abaxial leaf side were frequently observed in the leaves of both sexes. No important differences between male and female plants were found in the structures of vascular system in leaves and leaf petioles. Thus leaf thickness and surface morphology of adaxial leaf epidermis can be considered as important structural parameters in the sex determination. This revised version was published online in July 2006 with corrections to the Cover Date.     

暗纹东方TUN 同工酶生化表现型的研究

利用聚丙烯酰胺凝胶垂直平板电泳方法,对暗纹东方|TUN|的心、肝、肾、肌、性腺5种不同组织的7种同工酶(EST、LDH、POD、MDH、SOD、SDH、α-AMY)进行了研究, 讨论了各同工酶的基因表达谱式,观察到EST同工酶存在着多态现象;LDH同工酶有二个基因位点,但只表现3条带,A与B亚基的结合受阻; MDH同工酶存在性别差异,说明决定MDH同工酶表达的因素在不同性别中存在差异;SOD同工酶有3个基因位点。各同工酶酶谱稳定,有组织特异性,但EST、MDH、SOD、POD同工酶在各组织器官中又表现出较大的一致性,有利于物种的鉴定。α-AMY与SDH只在个别组织中有活性,可能与特定组织与器官的形态发生与机能分化有关。 Abstract:By means of polyacrylamid gel electrophoresis seven isozymes(EST.LDH,SOD,MDH,SDH, α-AMY)in heart,liver,kidney,muscle and gonad of Fugu obscurus were studied.The gene expression patterns of each isozyme were analyzed.The results indicated that polymorphism was detected in EST isozymes;LDH isozymes had two loci,but only three bands could be observed,the random association of two subunits(A and B)were restricted;Some MDH isozymes existed sexual differences in identical tissues.The suggested that the factors controlling the expression of MDH isozymes were different between sexes.All the isozyme phenotypes exhibited tissue-specificity and stability,but EST,MDH,SOD and POD isozymes showed relatively consistence in the five tissues.Their characteristic bands could be used in species determination.The activities of SDH andα-AMY isozymes could only be detected in some tissues and closely correlated to the morphological or functional differentiation of those tissues or organs.     

应用PCR进行水稻染色体末端区域作图

利用RAPD引物介寻的不对称复性温度PCR的方法（RM－PCR）,发展了一种基于端粒重复序列的新型分子标记。并在一个籼粳杂交来源（窄叶青8号×京系17）的水稻双单倍体群体中进行了端粒重复相关顺序的遗传定位。在23个定位位点中,有12个定位在水稻8个染色体臂的最远端,并将所在染色体分别向外延长了7．7～22．6cM。其中有些可能是定位在亚端粒区。有5个位点被定位在着丝粒区,另外6个位点定位于染色体内其他区域。     

GG sequence of DNA and the human telomeric sequence react with cis-diammine-diaquaplatinum at comparable rates

G-quadruplex structures of telomeric sequences are of growing interest because they inhibit telomerase, an enzyme involved in the maintenance of telomere length of cancer cells. As we have shown previously, the antiparallel structure of G-quadruplexes can be cross-linked in vitro by the anti-tumour drug cisplatin. The question arises whether platination of quadruplex structures of human telomeric sequences by cisplatin could be relevant from a biological point of view. Therefore, we have compared the kinetics of reactions of the diaqua form of cisplatin, cis-[Pt(NH(3))(2)(H(2)O)(2)](2+), with the human telomeric quadruplex structure, a duplex DNA and a single-stranded DNA containing one specific platination GG site. The ratio between the platination rate constants was obtained using two intramolecular competition experiments: either a construct with a junction between duplex DNA containing a unique GG platination site and the quadruplex structure of the human telomeric sequence AG(3)(T(2)AG(3))(3), or a construct with a junction between duplex DNA and a single strand containing each a unique GG platination site. Those competition experiments allowed us to conclude that the platination of the quadruplex is favoured over that of the GG duplex by a factor of about two whereas the GG duplex is platinated three times faster than the GG single strand.     

Cellular aging is associated with increased ubiquitylation of histone H2B in yeast telomeric heterochromatin

Epigenetic changes in chromatin state are associated with aging. Notably, two histone modifications have recently been implicated in lifespan regulation, namely acetylation at H4 lysine 16 in yeast and methylation at H3 lysine 4 (H3K4) in nematodes. However, less is known about other histone modifications. Here, we report that cellular aging is associated with increased ubiquitylation of histone H2B in yeast telomeric heterochromatin. An increase in ubiquitylation at histone H2B lysine 123 and methylations at both H3K4 and H3 lysine 79 (H3K79) was observed at the telomere-proximal regions of replicatively aged cells, coincident with decreased Sir2 abundance. Moreover, deficiencies in the H2B ubiquitylase complex Rad6/Bre1 as well as the deubiquitylase Ubp10 reduced the lifespan by altering both H3K4 and H3K79 methylation and Sir2 recruitment. Thus, these results show that low levels of H2B ubiquitylation are a prerequisite for a normal lifespan and the trans-tail regulation of histone modifications regulates age-associated Sir2 recruitment through telomeric silencing.     

HeT-A telomere-specific retrotransposons in the centric heterochromatin of Drosophila melanogaster chromosome 3

We have isolated two yeast artificial chromosome (YAC) clones from Drosophila melanogaster that contain a small amount of dodeca satellite (a satellite DNA located in the centromeric region of chromosome 3) and sequences homologous to the telomeric retrotransposon HeT-A. Using these YACs as probes for fluorescence in situ hybridization to mitotic chromosomes, we have localized these HeT-A elements to the centric heterochromatin of chromosome 3, at region h55. The possible origin of these telomeric elements in a centromeric position is discussed. Received: 30 July 1999 / Accepted: 19 September 1999     

Systematic search for compact structures of telomeric nucleosomes

Telomeres are structures functionally and structurally distinct from bulk chromatin. They are constituted of highly conserved 5-7 bp tandemly repeated units, organized into nucleosomes with short linkers, whereas the knowledge of the linker histone role in telomeric chromatin is still fragmentary. Experimental evidence suggests the structural organization of telomeric nucleosomes is different from that of the bulk chromatin. This work presents a systematic search of the telomeric nucleosome arrangements. A low-resolution molecular model was used to evaluate the relative nucleosome packing energy. Structures with favorable energy were found, reducing the possible telomeric chromatin conformations to two different three-dimensional folds.     

Chromosome studies of in vitro senescent lymphocytes: nonrandom trisomy 2

Chromosome studies were carried out in long-term (142 and 184 d) human lymphocyte in vitro cultures in order to investigate the cytogenetic status of aging lymphocytes. The female donors were subdivided into three subgroups according to their age: 20-40 year-old (three individuals), 70-90 year-old (five persons), and centenarians (three persons). Besides some aneuploidy and structural abnormalities, telomere fusions were detected in all donor cells, and associations of acrocentric chromosomes were found in six persons in the three age-groups. Clonal trisomy 2 was present in three individuals (two from the 70-90 year-group and one centenarian with a clone +2, +8). While telomeric fusions and acrocentric associations seem to be more related to in vitro aging, trisomy 2 also appears dependent on the age of the cell donors.     

Direct NMR detection of the "invisible" alkali metal cations tightly bound to G-quadruplex structures

We report the first direct solution NMR detection of the alkali metal cations (²³Na⁺, ³⁹K⁺, and ⁸⁷Rb⁺) residing inside G-quadruplex channel structures formed by guanosine 5′-monophosphate and a DNA oligomer, d(TG₄T). In solution, these channel alkali metal cations are tightly bound to the G-quadruplex structure and have been considered to be “invisible” to NMR spectroscopy for many years. Our finding that it is possible to directly observe these alkali metal cations by NMR spectroscopy provides a new tool for studying cation binding affinity and dynamics in G-quadruplex DNA.     

X-ray-induced telomeric instability in Atm-deficient mouse cells

The gene responsible for ataxia telangiectasia (AT) encodes ATM protein, which plays a major role in the network of a signal transduction initiated by double strand DNA breaks. To determine how radiation-induced genomic instability is modulated by the dysfunction of ATM protein, we examined radiation-induced delayed chromosomal instability in individual cell lines established from wild-type Atm(+/+), heterozygote Atm(+/-), and knock-out Atm(-/-) mouse embryos. The results indicate that Atm(-/-) mouse cells are highly susceptible to the delayed induction of telomeric instability and end-to-end chromosome fusions by radiation in addition to the elevated spontaneous telomeric instability detected by telomere fluorescence in situ hybridization (FISH). The telomeric instability was characterized by abnormal telomere FISH signals, including loss of the signals and the extra-chromosomal signals that were associated and/or not associated with chromosome ends, suggesting that Atm deficiency makes telomeres vulnerable to breakage. Thus, the present study shows that Atm protein plays an essential role in maintaining telomere integrity and prevents chromosomes from end-to-end fusions, indicating that telomeres are a target for the induction of genomic instability by radiation.