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981.
Evidence for Linkage of Bipolar Disorder to Chromosome 18 with a Parent-of-Origin Effect 总被引:16,自引:8,他引:8
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O. Colin Stine Jianfeng Xu Rebecca Koskela Francis J. McMahon Michele Gschwend Carl Friddle Chris D. Clark Melvin G. McInnis Sylvia G. Simpson Theresa S. Breschel Eva Vishio Kelly Riskin Harriet Feilotter Eugene Chen Susan Shen Susan Folstein Deborah A. Meyers David Botstein Thomas G. Marr J. Raymond DePaulo 《American journal of human genetics》1995,57(6):1384-1394
A susceptibility gene on chromosome 18 and a parent-of-origin effect have been suggested for bipolar affective disorder (BPAD). We have studied 28 nuclear families selected for apparent unilineal transmission of the BPAD phenotype, by using 31 polymorphic markers spanning chromosome 18. Evidence for linkage was tested with affected-sib-pair and LOD score methods under two definitions of the affected phenotype. The affected-sib-pair analyses indicated excess allele sharing for markers on 18p within the region reported previously. The greatest sharing was at D18S37: 64% in bipolar and recurrent unipolar (RUP) sib pairs (P = .0006). In addition, excess sharing of the paternally, but not maternally, transmitted alleles was observed at three markers on 18q: at D18S41, 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles, and 21 pairs were discordant (P = .0004). The evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees, i.e., those in which the father or one of the father's sibs is affected. In these pedigrees, the greatest allele sharing (81%; P = .00002) and the highest LOD score (3.51; θ = 0.0) were observed at D18S41. Our results provide further support for linkage of BPAD to chromosome 18 and the first molecular evidence for a parent-of-origin effect operating in this disorder. The number of loci involved, and their precise location, require further study. 相似文献
982.
Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. 总被引:25,自引:13,他引:12
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Y S Chen A Torroni L Excoffier A S Santachiara-Benerecetti D C Wallace 《American journal of human genetics》1995,57(1):133-149
mtDNA sequence variation was examined in 140 Africans, including Pygmies from Zaire and Central African Republic (C.A.R.) and Mandenkalu, Wolof, and Pular from Senegal. More than 76% of the African mtDNAs (100% of the Pygmies and 67.3% of the Senegalese) formed one major mtDNA cluster (haplogroup L) defined by an African-specific HpaI site gain at nucleotide pair (np) 3592. Additional mutations subdivided haplogroup L into two subhaplogroups, each encompassing both Pygmy and Senegalese mtDNAs. A novel 12-bp homoplasmic insertion in the intergenic region between tRNA(Tyr) and cytochrome oxidase I (COI) genes was also observed in 17.6% of the Pygmies from C.A.R. This insertion is one of the largest observed in human mtDNAs. Another 25% of the Pygmy mtDNAs harbored a 9-bp deletion between the cytochrome oxidase II (COII) and tRNA(Lys) genes, a length polymorphism previously reported in non-African populations. In addition to haplogroup L, other haplogroups were observed in the Senegalese. These haplogroups were more similar to those observed in Europeans and Asians than to haplogroup L mtDNAs, suggesting that the African mtDNAs without the HpaI np 3592 site could be the ancestral types from which European and Asian mtDNAs were derived. Comparison of the intrapopulation sequence divergence in African and non-African populations confirms that African populations exhibit the largest extent of mtDNA variation, a result that further supports the hypothesis that Africans represent the most ancient human group and that all modern humans have a common and recent African origin. The age of the total African variation was estimated to be 101,000-133,000 years before present (YBP), while the age of haplogroup L was estimated at 98,000-130,000 YBP. These values substantially exceed the ages of all Asian- and European-specific mtDNA haplogroups. 相似文献
983.
Sublocalization of an Ataxia-Telangiectasia Gene Distal to D11S384 by Ancestral Haplotyping In Costa Rican Families 总被引:8,自引:4,他引:4
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Nancy Uhrhammer Ethan Lange Oscar Porras Arash Naeim Xiaoguang Chen Sepideh Sheikhavandi Sujata Chiplunkar Lan Yang Sugandha Dandekar Teresa Liang Nima Patel Sharon Teraoka Nitin Udar Nidia Calvo Patrick Concannon Kenneth Lange Richard A. Gatti 《American journal of human genetics》1995,57(1):103-111
In an effort to localize a gene for ataxia-telangiectasia (A-T), we have genotyped 27 affected Costa Rican families, with 13 markers, in the chromosome 11q22-23 region. Significant linkage disequilibrium was detected for 9/13 markers between D11S1816 and D11S1391. Recombination events observed in these pedigrees places A-T between D11S1819 and D11S1960. One ancestral haplotype is common to 24/54 affected chromosomes and roughly two-thirds of the families. Inferred (ancestral) recombination events involving this common haplotype in earlier generations suggest that A-T is distal to D11S384 and proximal to D11S1960. Several other common haplotypes were identified, consistent with multiple mutations in a single gene. When considered together with all other evidence, this study further sublocalizes the major A-T locus to ≈200 kb, between markers S384 and S535. 相似文献
984.
摇蚊幼虫对底泥中氮、磷释放作用的研究 总被引:6,自引:0,他引:6
本文研究了摇蚊幼虫对底泥中氮、磷释放的影响,初步探讨了摇蚊在湖泊富营养化过程中的生态作用。结果表明,摇蚊幼虫能明显促进底泥中氮、磷的释放,而释放到水层中的氮、磷又容易被藻类吸收利用,从而促进藻类生长。这种生态效应与水体营养循环和富营养化的发生及发展过程间存在着重要的关系。 相似文献
985.
濒危植物——长喙毛茛泽泻的雌雄配子体发育 总被引:2,自引:0,他引:2
长喙毛茛泽泻 Ranalisma rostratum stapf 小孢子母细胞的减数分裂过程为连续型,四分体为左右对称型。成熟花粉为三胞花粉。花药绒毡层为变形绒毡层。雌蕊由多数单室子房构成,每子房中含一具双珠被、薄珠心的倒生胚珠。胚囊发育为葱型。成熟胚囊中三个反足细胞退化;二个极核分别位于中央细胞的两端,其体积相差明显。这种极核分布可能与反足细胞过早退化有关。 相似文献
986.
四个籼稻(Oryza sativa L.)品种幼苗经1℃黑暗或光照250 μm ol·m - 2·s- 1处理后,抗冷的“桂山矮选3”比不抗冷的“青华6 号”幼苗存活率高,其子代是以“桂山矮选3”为母本的比“青华6 号”为母本的存活率较高。抽穗期剑叶经光照低温处理12、24 和36 h 后,光合作用是“桂山矮选3”和以“桂山矮选3”为母本的子代比“青华6 号”和以“青华6 号”为母本的子代下降较少。呼吸作用是前者比后者在处理12 h 时有明显升高现象。荧光参数Fv/Fo和Fv/Fm比值在处理24 h 时前者比后者下降明显,但在常温下恢复则是前者比后者明显较快。自然低温(寒露风)对叶绿素荧光的影响亦有相似的规律。对水稻后代的抗冷性倾向于母本进行了讨论 相似文献
987.
脱落酸对线粒体Na^+—K^+ATPase活性的影响 总被引:3,自引:0,他引:3
在提取大豆(Glycine m ax)黄化子叶的线粒体时,于清洗和悬浮介质中加入ABA,发现40 μm ol/L(±) ABA 对线粒体膜结合Na+ -K+ ATPase 活性及线粒体吸氧速率有明显的促进作用。ABA 可使16℃与27℃培养的大豆子叶线粒体膜结合Na+ -K+ ATPase Arrhenius图的折点温度分别下降6.3℃和5.9℃,并将该酶的底物动力学曲线由正协同曲线转变为非协同曲线。表明ABA 可降低线粒体的膜相变温度 相似文献
988.
杨树新品种叶肉原生质体培养和植株再生 总被引:4,自引:1,他引:3
从1 个月龄的NL-80106 杨(Populusdeltoides×P. sim onii)无菌苗叶片分离得到大量原生质体,纯化后其原生质体产量为4×107/g fr.w t. 纯化的原生质体在含2,4-D 2 m g/L、NAA 0.5 m g/L和KT 0.5 m g/L的KM8p 和MS培养基中进行高密度液体浅层培养,渗透势为0.40 m ol/L的KM8p 培养基中原生质体分裂频率最高. 培养第5 天观察到第一次细胞分裂,培养10 d 的分裂频率为4.5% ,12 周内可形成大量的细胞团和小愈伤组织. NL-80106杨叶肉原生质体在富含有机氮并以葡萄糖为碳源的培养基中具有较高的分裂频率和植板率.小愈伤组织在gelrite 固化的NLZ1 培养基上增殖生长,3 周后形成4—6 m m 结构紧密的鲜红色愈伤组织,转至NLF分化培养基,分化成苗率为100% . 待芽伸长到3 cm 时,从基部切下转至1/2 MS培养基上诱导生根,形成完整植株 相似文献
989.
玉米根ABA结合蛋白的亚细胞定位及动力学性质 总被引:9,自引:0,他引:9
以玉米(Zea maysL.)根或胚芽鞘为材料,经匀浆、分级离心得到胞质部分和膜部分(微粒体),进一步用6.2% (W/W ) Dextran T500 和PEG 3350 两相系统制备质膜,用1% 和8% (W /W) Dextran T70 梯度离心制备液泡膜. 电镜鉴定及多种标志酶检测表明,制备获得了高纯度正向型质膜和富含液泡膜的组分,其它内膜的污染很少. 用微量放射配体结合(MRLB)实验证明,玉米根微粒体的ABA专一性结合位点主要分布在液泡膜和质膜上,这两种膜组分与ABA 的特异结合活性分别为2485.4 fm ol/m g protein 和1257.3 fm ol/m g pro-tein,玉米根段胞质部分结合活性最低(差一个数量级).质膜上ABA-BP与ABA 的结合平衡解离常数(KD)为1.57 nm ol/L. 相似文献
990.
Ewa Sewerynek Mitsushi Abe Russel J. Reiter Lornell R. Barlow-Walden Lidun Chen Timothy J. McCabe Linda J. Roman Beatriz Diaz-Lopez 《Journal of cellular biochemistry》1995,58(4):436-444
The protective effect of melatonin on lipopolysaccharide (LPS)-induced oxidative damage in phenobarbital-treated rats was measured using the following parameters: changes in total glutathione (tGSH) concentration, levels of oxidized glutathione (GSSG), the activity of the antioxidant enzyme glutathione peroxidase (GSH-PX) in both brain and liver, and the content of cytochrome P450 reductase in liver. Melatonin was injected intraperitoneally (ip, 4mg/kg BW) every hour for 4 h after LPS administration; control animals received 4 injections of diluent. LPS was given (ip, 4 mg/kg) 6 h before the animals were killed. Prior to the LPS injection, animals were pretreated with phenobarbital (PB), a stimulator of cytochrome P450 reductase, at a dose 80 mg/kg BW ip for 3 consecutive days. One group of animals received LPS together with Nw-nitro-L-arginine methyl ester (L-NAME), a blocker of nitric oxide synthase (NOS) (for 4 days given in drinking water at a concentration of 50 mM). In liver, PB, in all groups, increased significantly both the concentration of tGSH and the activity of GSH-PX. When the animals were injected with LPS the levels of tGSH and GSSG were significantly higher compared with other groups while melatonin and L-NAME significantly enhanced tGSH when compared with that in the LPS-treated rats. Melatonin alone reduced GSSG levels and enhanced the activity of GSH-PX in LPS-treated animals. Additionally, LPS diminished the content of cytochrome P450 reductase with this effect being largely prevented by L-NAME administration. Melatonin did not change the content of P450 either in PB- or LPS-treated animals. In brain, melatonin and L-NAME increased both tGSH levels and the activity of GSH-PX in LPS-treated animals. The results suggest that melatonin protects against LPS-induced oxidative toxicity in PB-treated animals in both liver and brain, and the findings are consistent with previously published observations related to the antioxidant activity of the pineal hormone. 相似文献