A mutation in<Emphasis Type="Italic"> PCSK9</Emphasis> causing autosomal-dominant hypercholesterolemia in a Utah pedigree

Familial hypercholesterolemia results from mutations in the low-density lipoprotein (LDL) receptor or apolipoprotein B genes. We have previously reported the identification of a Utah autosomal-dominant hypercholesterolemia pedigree (kindred 1173) that did not show linkage to either of these loci (Hunt et al. 2000). Expansion of the pedigree and increased marker density within the region of interest have resulted in a multipoint LOD score of 9.6 and enabled us to decrease the size of the linked region to approximately 7.5 Mbp. In addition, we were able to identify additional families sharing the same microsatellite haplotype. While all haplotype carriers in kindred 1173 (K1173) are affected, the haplotype carriers within the newly identified families are unaffected, suggesting that the causal mutation in K1173 had occurred after divergence of these pedigrees from a common ancestor. Mutation screening of genes in the region identified a single nucleotide variant (GT) present on the K1173 haplotype that was not present on the same haplotype in the other kindreds. This variant results in a D374Y missense change in the gene PCSK9.     

Microsatellite analyses reveal fine-scale genetic structure in grey mouse lemurs (Microcebus murinus)

Information on genetic structure can be used to complement direct inferences on social systems and behaviour. We studied the genetic structure of the solitary grey mouse lemur (Microcebus murinus), a small, nocturnal primate endemic to western Madagascar, with the aim of getting further insight on its breeding structure. Tissue samples from 167 grey mouse lemurs in an area covering 12.3 km2 in Kirindy Forest were obtained from trapping. The capture data indicated a noncontinuous distribution of individuals in the study area. Using 10 microsatellite markers, significant genetic differentiation in the study area was demonstrated and dispersal was found to be significantly male biased. Furthermore, we observed an overall excess of homozygotes in the total population (F(IT) = 0.131), which we interpret as caused by fine-scale structure with breeding occurring in small units. Evidence for a clumped distribution of identical homozygotes was found, supporting the notion that dispersal distance for breeding was shorter than that for foraging, i.e. the breeding neighbourhood size is smaller than the foraging neighbourhood size. In conclusion, we found a more complex population structure than what has been previously reported in studies performed on smaller spatial scales. The noncontinuous distribution of individuals and the effects of social variables on the genetic structure have implications for the interpretation of social organization and the planning of conservation activities that may apply to other solitary and endangered mammals as well.     

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p

Retinitis pigmentosa (RP) is a debilitating disease of the retina affecting ∼1.5 million people worldwide. RP shows remarkable heterogeneity both clinically and genetically, with more than 40 genetic loci implicated, 12 of which account for the autosomal dominant form (adRP) of inheritance. We have recently identified a French Canadian family that presents with early onset adRP. After exclusion of all known loci for adRP, a genome-wide search established firm linkage with a marker from the short arm of chromosome 9 (LOD score of 6.3 at recombination fraction θ=0). The linked region is flanked by markers D9S285 and D9S1874, corresponding to a genetic distance of 31 cM, in the region 9p22-p13.     

毛花猕猴桃原生质体再生植株根尖染色体数目变异与细胞多核现象

对18株毛花猕猴桃(Actinidia eriantha Benth.)原生质体再生植株的体细胞染色体数做了观察,其中12株为整倍体:二倍体(2n=58)和四倍体(2n=116)各6株;另外6株为混倍体,其染色体数目变化在59～203之间。还发现原生质体再生植株有丝分裂间期细胞存在多核现象,有多核细胞的共10株,细胞核数目以双核和三核较常见,最多的有7个核。对照植株为2n=2x=58,未发现多核细胞。     

山东牵牛属植物的核型研究

牵牛属（PharbitisChoisy）植物山东有3种,即牵牛P．hederacea（L．）Choisy、裂叶牵牛P．nil（L．）Choisy和圆叶牵牛P.purpurea（L.）Voist。裂叶牵牛的染色体数目已有报道[1~3],但未见核型报道,牵牛和圆叶牵牛均未见染色体数目及核型报道[4~6]。笔者对这3种植物的染色体数目及核型进行了比较研究,旨在为该属植物细胞分类学的系统研究积累资料。1材料与方法实验材料采自山东千佛山牵牛、裂叶牵牛和圆叶牵牛的种子,常规根尖压片,每种植物观察100个细胞。核型分析按李懋学等[7]报道的标准,核型不对称性按Stebbins[8]的分类方法。…     

高粱不同品种的核型分析

我国高粱的种植,不仅面积大,而且品种众多,农艺性状差异显著。有关高粱核型的分析,部分品和已有报道'－"。为了更多地了解不同品种的核型,从而为研究高粱的进化和遗传育种等提供必要的细胆学依据,作者对4个高粱品种的核型进行了G一显带分析,报道如下。1材料和方法本实验所用材料,分别由吉林省农科院和河南省农科院提供。种子于25℃萌发,待根长Icm左右时,按宋运淳"'等修改的ASG法制片,核型分析按李极学"'等建议的标准进行。2结果与分析"郑粱2号"、"甜杆G"、"竹叶青"和"忻粱7号"的细胞有丝分裂中期相与相应的核型见图版1：A－…     

激光对花生诱变效果的研究

Ｈｅ－ＮｅＹＡＧ和ＣＯ２激光对花生Ｌ１代幼苗期有刺激生长的作用,ＣＯ２激光对花生Ｌ１代的株高有较明显的抑制作用,ＣＯ２,Ｈｅ－Ｎｅ和ＹＡＧ激光对花生Ｌ１代植株的总果数,饱果数有一定的增多作用,且前者最明显,但Ｎ２激光对花生Ｌ１代植株的总果数,饱果数均有明显的减少作用;Ｈｅ－ＮｅＹＡＧ,Ｎ２和ＣＯ２激光均能诱发药生根尖细胞染色体畸变,且畸变率随辐照剂量的增大而上升,以上四种激光所诱发发生的变异性状是     

Regeneration and analysis of interspecific asymmetric potato –Solanum ssp hybrid plants selected by micromanipulation or fluorescence-activated cell sorting (FACS)

 Recipient protoplasts from three Solanum tuberosum genotypes, cv ‘Folva’ (2n=4x=48), cv ‘Matilda’ (4n) and ‘161 : 14’ (2n), were electrofused with X-ray-irradiated donor protoplasts from two wild species S. spegazzinii (2n) or S. microdontum×S. vernei (2n). Prior to fusion, protoplasts were fluorescence-labelled with either fluorescein diacetate or scopoletin. Fusion products were identified by dual fluorescence and selected by micromanipulation or fluorescence-activated cell sorting (FACS). All putative hybrid plants were analysed by the random amplified polymorphic DNA (RAPD) technique. Our analysis demonstrates that each asymmetric hybrid plant has an individual and stable profile of donor-specific RAPD bands. The irradiation of donor protoplasts hampered the growth of selected heterofusion products in a dose-dependent way. Irradiation resulted in donor chromosome elimination, but not in a dose dependent way, in the tested interval. In asymmetric hybrids with the S. spegazzinii donor 33–68% of the donor-specific RAPD bands were missing, indicating a similar level of chromosome elimination. In asymmetric hybrid plants with the S. microdontum×S. vernei donor 74–95% of the donor RAPD bands were missing. Chromosome countings revealed that these hybrids had chromosome numbers equal to or below the chromosome numbers found in the tetraploid recipients. This is the first time that highly asymmetric hybrid plants between two tetraploid potato recipients and the donor S. microdontum×S. vernei have been obtained. Received : 16 December 1996 / Accepted: 21 February 1997     

Molecular cytogenetic analysis of Leymus racemosus chromosomes added to wheat

Five disomic, two double-disomic, and two ditelosomic addition lines and one disomic substitution line derived from the crosses of Triticum aestivum (2n=6x=42, AABBDD)×Leymus racemosus (2n= 4x=28, JJNN) were identified by C-banding analysis. The homoeology of the added Leymus chromosomes was determined by RFLP analysis. Four of five disomic addition lines belonged to group 2, 5, 6 and 7 chromosomes of L. racemosus; these were designated as 2Lr?1(NAU516), 5Lr?1(NAU504, NAU514), 6Lr?1 (NAU512), and 7Lr?1(NAU501). Two additional chromosomes, 1Lr?1 and 3Lr?1, were present in double-disomic addition lines 1Lr?1+5Lr?1 (NAU525) and 3Lr?1+7Lr?1(NAU524), respec-tively. In the disomic substitution line wheat chromosome 2B was replaced by L. racemosus chromosome 2Lr?1 (NAU551). Two telocentric chromosomes, 2Lr?2S (NAU509) and 7Lr?1S (NAU511), were isolated as ditelosomic addition lines. The study presented here provides the first evidence of homoeology of the added L. racemosus chromosomes with wheat chromosomes using DNA markers. Our data provide the basis for further directed chromosome engineering aimed at producing compensating wheat-L. racemosus translocation lines.