一例智力低下患者7q~ 标记染色体的来源鉴定

以人类染色体显微切割、PCR技术构建的现有人类染色体特异性和染色体区带特异性探针池作为绘画探针,采用正向染色体绘画技术,结合染色体筛查方法,查明了一例7q~ 标记染色体患者的染色体附加片段来源于3q26→3qter。确定该患者的核型为46,XX,-7, der(7)t(7;3)(7pter→7q32::3q26→3qter)。应用这个策略,能够快速有效地鉴定标记染色体的来源。     

我国西北地区49例Hb G Coushatta的分布——东北亚古代游牧民族的遗传标志

本文报道49例Hb G Coushatta在我国西北部的分布情况。新疆和甘肃的发生率为0.57‰和0.43‰,高于陕西的发生率0.07‰。维吾尔、哈萨克、柯尔克孜和回族的发生率为0.66‰—1.74‰,高于汉族的发生率0.45‰。Hb G Coushatta基因流呈由北向南和向西漂移和特点,结合国内外有关资料进行分析,这种变异体起源于东北亚地区,为古代游牧民族的遗传标志。     

An Improved Method for Preparing the Chromosomes of Pines and other Gymnosperms

A simple technic is described to produce well spread gymnosperm chromosomes. Root tip meristems are digested with a pectinase:cellulase mixture to produce a cell suspension which then is squashed to yield flat, well spread chromosome complements that can be stained or used for in situ hybridization.     

Preparation of Insect Chromosomes for Immunolabeling

We describe a method for isolating chromosomes from testes of the desert locust, Schistocerca gregaria, and their subsequent incubation with antibodies directed against chromosomal proteins. The procedure involves hypotonic pretreatment of the germ cells, centrifugation onto coverslips in a cytocentrifuge and immunolabeling, while still unfixed, using a chromatin-stabilizing buffer. In the present case, an antibody specific for the acetylated isoforms of his tone H4 was tested. After the antibody treatment, the preparations are fixed using formaldehyde, stained with a DNA-specific fluorescent dye and mounted. Analysis of the preparations revealed good preservation of chromosome structure in prophase spermatogonia and late prophase I spermatocytes. Fully condensed chromosomes were not observed and are probably lost during preparation. The bright fluorescence of the autosomes indicates that the reaction between the antibody against acetylated histone H4 and its chromosomal antigen is not impeded. In contrast, the X univalent remained unstained with the exception of a small terminal band. Thus, cytospin preparations of locust germ cells allow high resolution immunolabeling with antibodies against chromosome-associated proteins.     

A 19-kb CpG Island Associated with Single-minded Gene 2 in Down Syndrome Chromosomal Region

To help in isolating the genes involved in Down syndrome, wesought CpG islands in 4 Mb cosmid/PAC contigs spanning mostof the 21q.22.2 band using seven rare cutting enzymes. A strikingfeature was observed upstream of hSIM2 where at least 41 rare-cuttingsites were clustered within a 20-kb region. To investigate thestructure of the cluster, a cosmid containing hSIM2 was submittedto shotgun sequencing. Sequence analysis revealed that the clusterwas a long CpG island extending 19, 128 nucleotides which includesin the first and second exons of hSIM2. Taken together withour observation in which the CpG islands were concentrated within1.2 Mb around hSIM2, we propose that this region functions asan R-band, and the cluster provides a unique element for markingof DNA for the spatial and temporal expression of the hSIM2locus.     

RFLP patterns of gliadin alleles in Triticum aestivum L.: implications for analysis of the organization and evolution of complex loci

A correspondence between RFLP patterns and gliadin alleles at the Gli-1 and Gli-2 loci was established in a set of 70 common wheat (T.aestivum L.) cultivars using -gliadin (K32) and -gliadin (pTU1) specific probes. All Gli-B1 and Gli-D1 alleles which differed in encoded -gliadins showed definite RFLP patterns after hybridization with the K32 probe. Two groups of Gli-B1 alleles, Gli-B1b-like and Gli-B1e-like, were identified, and these could originate from distinct genotypes of the presumptive donor of the B-genome. Intralocus recombination and/or gene conversion as well as small deletions, gene silencing and gene amplification were assumed to be responsible for the origin of new gliadin alleles. Silent -gliadin sequences were shown to exist in all of the genotypes studied. K32 also differentiated Gli-A1a from all other Gli-A1 alleles as well as the Gli-B11 allele in cultivars carrying the 1B/1R (wheat/rye) translocation. PTU1 was shown to recognize several Gli-A2 alleles, but not the Gli-B2 or Gli-D2 alleles. Moreover, this probe hybridized to chromosome 1R sequences suggesting the existence of rye gene(s), probably silent, for -gliadin-like proteins on chromosome 1R.     

Morphological and cytological characteristics of some wheat x barley hybrids

As initial step in the transfer of dwarf bunt resistance from barley into wheat, the two cereal crops were hybridized. Using the wheat cultivars Fukuhokomugi and Chinese Spring (AABBDD genomes) as female parents and barley cultivar Luther (II genome) as male, we synthesized 9 euploid hybrids (2n = 4x = 28; ABDI genomes). The hybrids were vigorous, but highly sterile. Meiotic analyses of seven hybrids showed considerable variation in chromosome pairing. Of the hybrids involving Fukuhokomugi 3 had high pairing with a mean of 5.08–6.72 chiasmata per cell, while others had 2.16–3.52 chiasmata per cell. As many as 12 bivalents in some pollen mother cells would suggest at least some pairing between wheat and barley chromosomes. This level of homoeologous pairing, coupled with some, albeit low, female fertility of the F₁ hybrids, could offer an opportunity for intergeneric gene transfers from barley into wheat and vice versa.     

The porcine intestinal receptor for Escherichia coli K88ab,K88ac: regional localization on chromosome 13 and influence of IgG response to the K88 antigen

The loci encoding the porcine intestinal receptors for Escherichia coli K88ab and K88ac (K88abR and K88acR) were firmly assigned to chromosome 13 by linkage analysis using a three-generation pedigree. The linear order of these loci and seven other markers on chromosome 13 was determined by multipoint analyses. The K88abR and K88acR loci were tightly linked with the K88abR locus localized 7·4 cM (sex average) proximal to the transferrin locus. The results, together with previous reports from two other groups, provide an unequivocal assignment of the K88 receptor loci to chromosome 13, and reject a previous assignment to chromosome 4. Pigs possessing the receptor had a slightly higher specific IgG response to the K88 antigen after an intramuscular immunization with an E. coli vaccine.     

Zfy1 encodes a nuclear sequence-specific DNA binding protein

Zfy1 is a mouse Y chromosomal gene encoding a zincfinger protein which is thought to have some function during spermatogenesis. Here we show that, when introduced into tissue culture cells, Zfy1 is targeted to the nucleus. Two independent signals are present within the protein for nuclear localization. This nuclear Zfy1 protein is able to bind strongly to DNA-cellulose and, using site-selection assays, we have identified specific Zfy1 DNA binding sites. Taken together these results suggest that Zfy1 is a nuclear-located sequence-specific DNA binding protein which functions during spermatogenesis.