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1.
Rumiko Matsuoka Michihiro C. Yoshida Naotoshi Kanda Misa Kimura Hisashi Ozasa Atsuyoshi Takao John M. Opitz James F. Reynolds 《American journal of medical genetics. Part A》1989,32(2):279-284
Our previous report demonstrated that two human cardiac α- and β-myosin heavy-chains (MHCs) which correspond to MYH6 and MYH7 respectively, according to Human Gene Mapping nomenclature, were mapped to human chromosome 14 and that human cardiac and skeletal MHC genes do not cosegregate. For further analysis, the regional mapping method was used. DNA from 4 human deletion and 3 human duplication cell lines were prepared for southern blotting, hybridized with human cardiac α- and β-MHC DNA probes, and the hybridization intensity relative to 46,XX or 46,XY DNA was estimated. The results showed that two human cardiac MHC genes segregated with the 14cen→q13 region of the long arm of human chromosome 14. In situ hybridization of 3H-labeled human cardiac α-MHC probe to normal human metaphase chromosome independently confirmed this result. 相似文献
2.
Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2----q13 总被引:7,自引:0,他引:7
R Matsuoka M C Yoshida N Kanda M Kimura H Ozasa A Takao 《American journal of medical genetics》1989,32(2):279-284
Our previous report demonstrated that two human cardiac alpha- and beta-myosin heavy-chains (MHCs) which correspond to MYH6 and MYH7 respectively, according to Human Gene Mapping nomenclature, were mapped to human chromosome 14 and that human cardiac and skeletal MHC genes do not cosegregate. For further analysis, the regional mapping method was used. DNA from 4 human deletion and 3 human duplication cell lines were prepared for southern blotting, hybridized with human cardiac alpha- and beta-MHC DNA probes, and the hybridization intensity relative to 46,XX or 46,XY DNA was estimated. The results showed that two human cardiac MHC genes segregated with the 14cen----q13 region of the long arm of human chromosome 14. In situ hybridization of 3H-labeled human cardiac alpha-MHC probe to normal human metaphase chromosome independently confirmed this result. 相似文献
3.
Mengrong Li Elaine H. Zackai Norio Niikawa Paige Kaplan Deborah A. Driscoll 《American journal of medical genetics. Part A》1996,65(2):101-103
Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene-deletion syndrome. Based on the presence of congenital heart defects in patients with KS, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2 patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (R32) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11. © 1996 Wiley-Liss, Inc. 相似文献
4.
Measurement of telomere length on tissue sections using quantitative fluorescence in situ hybridization (Q-FISH) 总被引:4,自引:0,他引:4
Ferlicot S Youssef N Feneux D Delhommeau F Paradis V Bedossa P 《The Journal of pathology》2003,200(5):661-666
Loss of telomere repeat sequences occurs after each cell division and telomere shortening has been implicated in cellular senescence. The measurement of telomere length might therefore assess the lifespan of a cell. The aim of this study was to set up and validate a technique enabling the assessment of telomere length on tissue sections. Quantitative fluorescence in situ hybridization (Q-FISH) with telomeric probes was performed on smears and sections from cell preparations or human tissues. The mean fluorescence intensity of telomere spots (FI/spot) was automatically quantified by image analysis. Telomeric restriction fragment (TRF) length was assessed by Southern blotting. There was a positive significant correlation between telomere length, as assessed by Q-FISH, and TRF length determined by Southern blotting in corresponding samples (p < 0.01, r = 0.6 for tissue and p < 0.01, r = 0.79 for cells). FI/spot was higher on smears than on sections, but pairwise comparison showed a significant correlation both for cells and for tissues (r = 0.77, p < 0.001 for cells and p < or = 0.01, r = 0.64 for tissue). Finally, since telomere length is expected to shorten with age, FI/spot was assessed in liver samples according to the age of patients: a negative correlation was demonstrated (r = 0.76, p < 0.01). Inter-assay variation was 7% for Q-FISH performed on tissue sections and 12% on touch preparations. This study shows that Q-FISH can be performed with confidence on fixed frozen tissue sections in order to assess telomere length. It is an easy, accurate, and reproducible in situ method for assessing telomeres in the context of cell type and tissue architecture. 相似文献
5.
中国人群16号染色体q12区存在系统性红斑狼疮易感基因 总被引:11,自引:2,他引:11
目的:明确16号染色体与中国人系统性红斑狼疮(systemic lupus erythematosus,SLE)相关性,并对其进行易感基因定位以期发现疾病侯选基因。方法:以16号染色体遗传距离57.79-65.1cM的5对微卫星标记,对157个SLE患者家系DNA进行扩增,产物经377DNA测序仪电泳,所得数据由Genescan软件收集,并以ETDT及Genehunter软件进行统计处理。在阳性位点处寻找疾病侯选基因以实时PCR进行基因表达研究。结果:D16S409及D16S517与SLE存在传递不平衡,其中尤以D16S517最为显著(P<0.0001)。D16S517中,271bp等位基因优先传递给患病子代,277bp等位基因则优先传递给正常子代。对侯选基因的研究显示OAZ(OLF1/EBF-associated zinc finger protein)基因表达显著高于正常对照。结论:中国人群16q12区(58.46cM)与SLE发病相关联,OAZ是该区域可能的疾病基因,其疾病机理有待进一步研究。 相似文献
6.
Ulrike Lass Christian Hartmann David Capper Christel Herold‐Mende Andreas von Deimling Maren Meiboom Wolf Mueller 《Brain pathology (Zurich, Switzerland)》2013,23(3):311-318
Recent studies imply the importance of rapid and reliable diagnostic assessment of 1p/19q status in oligodendroglial tumors. To date, fluorescence in situ hybridization (FISH) is the most commonly applied technique. FISH, however, has several technical shortcomings that are suboptimal for diagnostic applications: results must be viewed in a fluorescence microscope, results are usually evaluated by a single investigator only, and signal fading excludes physical archiving. Also, in gliomas, the distinction of diffusely infiltrating tumor cells from reactively altered normal tissue may be challenging in fluorescence microscopy. Dual‐color chromogenic in situ hybridization (CISH) has started to replace FISH in some diagnostic tests performed in pathology. Here, we present the first single institute experience with a side‐by‐side analysis of 1p/19q FISH and CISH in a series of 42 consecutive gliomas. FISH and CISH produced identical results for 1p and 19q in 93% of cases (n = 39/42). Discrepant results were reevaluated by repeated FISH and a polymerase chain reaction (PCR)‐based microsatellite marker analysis for loss of heterozygosity. Reevaluation confirmed CISH data in all three cases. We conclude that CISH is a reliable alternative in 1p/19q testing in paraffin‐embedded tissues likely to be more sensitive to detect 1p/19q status than FISH analysis. 相似文献
7.
《中华医学遗传学杂志》2018,(1):23-28
Objective: To analyze the clinical and genetic features of 10 unrelated patients with duplications of 15q11q13 region and autism features. Methods: Karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridiztion (FISH) were carried out for the patients and their parents. Results: Eight patients presented with a supernumerary marker chromosome (SMC) of unknown origin by G-banding analysis and triplication of the 15q11q13 region by high-resolution CMA analysis. Two remaining patients had normal karyotypes but duplications of the 15q11q13 region. All duplications have encompassed the Prader Willi/Angelman syndrome critical region (PWACR). Similar gains in copy number were not detected among the parents of the patients, suggesting a de novo origin for them. Analysis of SNP-array data of the family trios using Chromosome Analysis Suite Software found that the copy number gains have originated from the mothers. The diagnosis of 15q11q13 duplication syndrome was ascertained. For patients with SMC detected by karyotyping analysis, a FISH assay using probes specific for the 15q11q13 region showed that such SMC also derived from chromosome 15q11q13 region and contained two copy numbers, which was consistent with the result of CMA. Conclusion: Ten patients with autism and 15q11q13 duplications were identified with combined karyotyping, CMA and FISH analysis. A phenotype-genotype correlation was established. © 2018 West China University of Medical Sciences. All rights reserved. 相似文献
8.
Progressive multifocal leucoencephalopathy: detection of papovavirus JC in kidney tissue 总被引:10,自引:0,他引:10
Cellular DNA of the kidney from a patient with PML was analyzed by reassociation kinetics for the presence of JC virus DNA. Various amounts of viral DNA sequences were detected in different areas of the kidney. The highest concentration (175 genome equivalents/cell) was found in the renal medulla and there were almost none in the renal cortex. Differentiation from the closely related BK virus was carried out by reassociation kinetics and restriction enzyme cleavage with subsequent Southern blot analysis. The enzyme Hind II, which does not cleave within the BK virus genome, generated four restriction enzyme fragments in the cellular DNA from the kidney, thus documenting the presence of JC virus DNA. By examination of the renal DNA with the "no-cut" restriction enzyme XHO I and the "one-cut" enzymes Eco RI and BAM HI it was possible to show that free and not integrated viral DNA was present in these cells. Nonhomogeneous defective DNA bands were not detectable. By in situ hybridization the epithelial cells lining the collecting tubules were found as predominant site of the viral infection in the kidney. 相似文献
9.
We report on a 5-year-old boy with minor anomalies, growth retardation, and developmental delay carrying an extra chromatin material on the terminal band of the long arm of chromosome 6. To determine the origin of this extra material, whole chromosome fluorescence in situ hybridization (FISH) was used initially. Results showed fully painted 6qs, excluding the possibility of a derivative. However, maternal cytogenetic investigation suggested the presence of a possible half-cryptic balanced translocation that was further assessed using specific subtelomeric FISH probes of chromosome 6. Results showed that the 6q subtelomeric region was translocated on an A-group chromosome that was ultimately characterized, using FISH, as chromosome 2. This illustrates the use of specific subtelomeric regions and the limitations of whole chromosome FISH to identify the origin of a subtle chromosomal abnormality. 相似文献
10.
Reassessment of the cytogenetics of a patient previously karyotyped as del(16)(q22) demonstrates the presence of a balanced translocation, t(4;16)(q35;q22.1). This patient should not be included in any future comparison involving the clinical features of patients with deletions of the long arm of chromosome 16. 相似文献
11.
目的 探讨荧光原位杂交技术(fluorescence in situ hybridization,FISH)在复杂染色体异常产前诊断中的应用价值.方法 对8例羊水、3例脐血常规G显带具有复杂染色体异常的产前诊断孕妇,应用FISH技术确定其复杂染色体重排及标记染色体的组成.结果 FISH技术证实了G-显带平衡易位的结果,同时明确了3例羊水中衍生染色体的组成、2例脐血中标记染色体的来源.结论 FISH技术具很高的敏感性和特异性,是明确染色体异常重要的分子细胞遗传学工具,其在产前诊断中的应用,可为临床提供更准确全面的实验依据. 相似文献
12.
11q trisomy detected by fluorescence in situ hybridization 总被引:1,自引:0,他引:1
Takako Takano Yasuko Yamanouchi Shoko Kawashima Masatsune Date Shintaro Hashira Mitsushiro Kida Toshiaki Abe Yutaka Nakahori Yasuo Nakagome 《Clinical genetics》1993,44(6):324-328
Takano T, Yamanouchi Y, Kawashima S, Date M, Hashira S, Kida M, Abe T, Nakahori Y, Nakagome Y. 11q trisomy detected by fluorescence in situ hybridization. Clin Genet 1993: 44: 324–328. © Munksgaard, 1993 A patient with psychomotor developmental delay, multiple minor anomalies, congenital heart disease and left inguinal hernia is reported. His karyotype was 45,X/46,X,+mar (3 : 37 cells), and the marker chromosome was identified as t(Y;11) (q12;q14?) using fluorescence in situ hybridization and fluorescent chromosome painting. He was diagnosed as mosaic for de novo 11q trisomy. 相似文献
13.
Ei-ichi Takahashi Tada-aki Hori Jeanne B. Lawrence John McNeil Robert H. Singer Peter O'Connell Mark Leppert Ray White 《Journal of human genetics》1989,34(4):307-311
We have made a regional assignment of the type II collagen gene (COL2A1) on human chromosome 12 by means of anin situ hybridization technique with a biotinylated DNA probe. The precise localization of the signal was mapped to the band 12q13.1-q13.2. This result was in agreement with the previous mapping by isotopicin situ hybridization technique (12q13.1-q13.2), but not with the result of Southern hybridization analysis using somatic cell hybrids (12q14.3). 相似文献
14.
A familial complex chromosomal rearrangement (CCR) was ascertained through a mentally retarded, dysmorphic individual. Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss of the segment 6q14 to 6q16 in the proband, and in an additional copy of the same segment in three members of the extended family. The proband has features similar to other reported cases with deletion of 6q1. The individuals with duplication of 6q14 to 6q16 have moderate mental retardation, short stature, obesity, microcephaly, brachycephaly, a short smooth philtrum, central hair whorl, simian creases, 5th finger brachydactyly and skeletal disproportion. In the 4-generation family, CCR carriers have a 20% empiric risk of phenotypically abnormal livebirths. 相似文献
15.
Jonkers YM Claessen SM Feuth T van Kessel AG Ramaekers FC Veltman JA Speel EJ 《The Journal of pathology》2006,210(4):450-458
Insulinomas represent the predominant syndromic subtype of endocrine pancreatic tumours. Previous molecular studies have shown that gain of chromosome 9q rather than MEN1 gene mutation is an important early event in tumour development and that chromosomal instability is associated with metastatic disease. In order to identify new gene loci and to define further the critical genetic events in insulinoma tumourigenesis, 27 insulinomas were investigated by array-based comparative genomic hybridization (array CGH) on 3.7 k genomic BAC arrays (resolution < or =1 Mb). Fluorescence in situ hybridization was used to validate alterations in a subset of tumours. Array CGH most frequently detected loss of chromosomes 11q and 22q and gains of chromosome 9q. The chromosomal regions of interest (CRI) included 11q24.1 (56%), 22q13.1 (67%), 22q13.31 (56%), and 9q32 (63%). Evaluation of the simultaneous occurrence of these aberrations in the individual tumours revealed that gain of 9q32 and loss of 22q13.1 are early genetic events in insulinomas, occurring independently of the other alterations. In tumours with increased genomic complexity, these alterations were often detected simultaneously, occurring in the same tumour cells. Losses of 11q24.1 and 22q13.31 were also associated with these more advanced tumour cases. The CRIs identified most likely harbour crucial candidate genes important in insulinoma tumourigenesis. 相似文献
16.
Mazin B. Qumsiyeh James D. Dalton Patricia L. Gordon R. Sid Wilroy Avirachan T. Tharapel 《American journal of medical genetics. Part A》1992,42(1):109-111
Chromosome analysis of lymphocytes from a patient with the clinical presentation of Prader-Willi syndrome showed the presence of 45 chromosomes, including a der(Y) resulting from an unbalanced t(Y;15)(q12;q11.2). In situ hybridization using DYZ3 and DYZ2 showed positive signals at the paracen-tromeric region on the short arm and at the heterochromatic region of the long arm of the Y chromosome, respectively. The Prader-Willi syndrome in this patient is caused by the deficiency of a very small region involving 15cen→q11.2. 相似文献
17.
A. Jaziorowska G. E. Houck Jr. X.-L. Yao S. L. Sklower-Brooks K. E. Wisniewski E. C. Jenkins H. M. Wisniewski 《Clinical genetics》1992,42(3):124-128
We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SODI studies suggested a karyotype of 46,XX,—12, + t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12. 相似文献
18.
M. J. Pettenati L. A. Teot C. Smith R. Hayworth I. T. Thomas J. C. Veille P. N. Rao 《American journal of medical genetics. Part A》1993,45(3):365-369
We report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX,?11,+der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/46,X,idic(Xq),?12,+der(12)t(X;12)(p11.2;p13.3). Molecular-cytogenetic analysis confirmed the origin of the derivative 12 chromosome in the latter. We present a literature review of reports with mosaic cell lines of structural chromosome abnormalities that share the same chromosome breakpoint. © 1993 Wiley-Liss, Inc. 相似文献
19.
肺癌组织p16和Rb基因mRNA表达的双重原位杂交观察 总被引:6,自引:0,他引:6
目的:研究P16和Rb基因在mRNA表达及其与肺癌的关系。方法:制备p16和Rb基因cDNA探针,采用双重原位杂交的方法,地89例肺癌和正常肺组织进行了P16 一Rb基因mRNA表达的定位研究。结果:小细胞肺癌p16mRNA阳性表达率高达82.4%,而非小细胞肺癌阳性率为45.8%,两者差异有显著性。非小细胞肺癌RbmRNA阳性表达率为81.9%,而小细胞肺癌一率仅5.9%,两者差异有高度显著性, 相似文献
20.
A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization 总被引:1,自引:0,他引:1
J. Koch S. Kølvraa N. Hobolt G. B. Petersen H. F. Willard J. S. Waye N. Gregersen L. Bolund 《Clinical genetics》1990,37(3):216-220
A small marker chromosome was identified as an X-derived ring chromosome by in situ hybridization with a biotinylated X-chromosome specific a-satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding. 相似文献