Reciprocal balanced translocation of the long arm of chromosome 8 to the short arm of chromosome 7 in a woman with two spontaneous abortions

1985 ◽  
Vol 70 (4) ◽  
pp. 379-379 ◽  
Author(s):  
H. Hatzissevastou-Loukidou ◽  
A. Bouli-Kalachani ◽  
A. Malaka-Zafiriou ◽  
S. Mantalenakis
Keyword(s):  
Chromosome 8 ◽  
Chromosome 7 ◽  
Spontaneous Abortions ◽  
Balanced Translocation

The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat

1985 ◽  
Vol 39 (2) ◽  
pp. 150-153 ◽  
Author(s):  
H. Brocas ◽  
J. Szpirer ◽  
R.V. Lebo ◽  
G. Levan ◽  
C. Szpirer ◽  
...  
Keyword(s):  
Chromosome 8 ◽  
Chromosome 7 ◽  
Thyroglobulin Gene

SNP Arrays in Patients with Myelodysplastic Syndromes and Ringed Sideroblasts: A Karyotypic and Disease Association Analysis

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 3653-3653
Author(s):  
Rami Khoriaty ◽  
Lukasz P. Gondek ◽  
Bartlomiej P Przychodzen ◽  
Theodore Ghazal ◽  
Abdo Haddad ◽  
...  
Keyword(s):  
Association Analysis ◽  
Chromosomal Abnormalities ◽  
Disease Association ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Chromosome 17 ◽  
Refractory Anemia ◽  
P Value ◽  
Chromosome 5 ◽  
Ringed Sideroblasts

Abstract Introduction: The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders. Ringed sideroblasts (RS) are found in the following subclasses of MDS: refractory anemia with ringed sideroblasts (RARS), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS), and refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T). The objective of this study was to evaluate the use of single nucleotide polymorphism (SNP) arrays (SNP-A) in patients with MDS and RS and specifically to compare chromosomal abnormalities detected by metaphase karyotyping (MC) with those detected using high-resolution SNP based karyotyping (which can detect unbalanced genomic lesions in addition to copy-neutral loss of heterozygozity) and to conduct a disease association analysis using the SNP-A. Methods: We reviewed the electronic records of patients with MDS and RS seen at our institution between 2002 and 2008. DNA was extracted using the Puregene DNA Purification Kit. Gene Chip Mapping 250K Assay Kit (Affymetrix) was used. Signal intensity and genotype calls were analyzed using CNAG v.3.0. For the disease association analysis, the Fisher’s p-value was used to compare SNPs found in patients with MDS and RS versus 150 normal controls. Results: 83 patients with MDS who have RS were identified. 40 (48%) had RARS, 25 (30%) had RCMD-RS, and 18 (22%) had RARS-T. The mean age of these patients was 70.7 years, 53 patients (64%) were males, and 70 (84%) were Caucasian. Of those 83 patients, 45 had available DNA for SNP analysis, 23 (51%) of whom had RARS, 11 (24%) had RCMD-RS, and 11 (24%) had RARS-T. The mean age of these 45 patients was 69.9 years, 29 (64%) were males, and 39 (87%) were Caucasian. By MC, 20/45 (44.5%) patients had abnormal karyotypes and 25/45 (55.5%) patients had normal karyotypes. Using SNP-A, chromosomal abnormalities including UPD were identified in 29/45 (64.5%) of patients. Of the 25 pts who had normal karyotypes by MC, 11 (44%) had abnormal karyotypes by SNP-A. The chromosomal distributions of the lesions detected by MC were as follows: chromosome 5 (18.4%), chromosome 7 (15.8%), chromosome 8 (13.1%), chromosome 17, 18, 19, 20, 21 (5.2% in each), and others (26.3 % in total). The distribution of chromosomal lesions detected by SNP-array analysis (excluding UPD) was as follows: chromosome 8 (18.7 %), chromosome 5 (14.6%), chromosome 7 (12.5%), chromosome 17 (10.4%), chromosome 20 (8.3%), chromosome 4 (6.2%), chromosomes 2, 3, 13, 22 (4.1% each), and others (12.5% in total). UPD was found in 12/45 (26.7%) patients mostly affecting chromosome 1 (27.8%). A large number of SNPs were found to be significantly more prevalent in patients with MDS with RS than in controls (with p-value < 0.0001). Genes within 50 kb from these SNPs were scrutinized. At least 11 of those genes (RP1, LIMD1, CHL1, ATP6V1F, TEAD2, SPTLC2, CDH13, DIAPH2, DLEU2, FAM10A4, TRPM8) are known to be related to cancer in the literature. Given that karyotypic abnormalities were more prevalent in chromosomes 8, 5, and 7, we looked specifically at the SNPs in those chromosomes which were significantly associated with disease (rs 409429, rs 446153, rs 453186 and rs 509273 in chromosome 8; rs6891109 in chromosome 5; and rs6970371 in chromosome 7). The genes within 50 kb of these SNPs that are known to be associated with cancer are: RP1 in chromosome 8 (colon cancer), and ATP6V1F in chromosome 7 (prostate cancer). Conclusion: This study shows that SNP-A based karyotyping is a useful tool for karyotyping and can detect more chromosomal abnormalities than MC (64.5 versus 44.5%, odds ratio 1.45). We also found that about half of the patients who had normal karyotypes by MC were found to have karyotypic abnormalities by SNP-A. In addition, we show multiple candidate genes that could be important in the pathogenesis of MDS with RS.

Localization of the 68 000-Da human neurofilament gene (NF68) using a murine cDNA probe

Genome ◽  
1988 ◽  
Vol 30 (4) ◽  
pp. 499-500 ◽  
Author(s):  
Martin J. Somerville ◽  
Donald R. McLachlan ◽  
Maire E. Percy
Keyword(s):  
Centromeric Region ◽  
Human Gene ◽  
Cdna Probe ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Gene Localization ◽  
Chromosome 2 ◽  
Genomic Probe ◽  
Human Genomic

A recent investigation, using a human genomic probe, has indicated that the 68 000 dalton neurofilament gene (NF68) is on the short arm of chromosome 8. We have used a murine cDNA probe on 65 metaphase spreads in situ to localize the human NF68 gene to 8p21 (20/370 grains; p < 0.0001). In addition, we have found secondary hybridization sites at the centromeric region of chromosome 2 and the long arm of chromosome 7, which are putative loci for other intermediate filaments.Key words: neurofilament, human, gene localization, murine cDNA.

Chromosomal Abnormalities in the Early Stem Cell Population of CML Patients in Complete Cytogenetic Remission.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 36-36 ◽  
Author(s):  
Thomas G.P. Bumm ◽  
Amy Hanlon Newell ◽  
Jay Oost ◽  
Jonathan VanDyke ◽  
Susan B. Olson ◽  
...  
Keyword(s):  
Cell Population ◽  
Mononuclear Cells ◽  
Normal Karyotype ◽  
Cytogenetic Response ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Stem Cell Population ◽  
Fish Analysis ◽  
Trisomy 8 ◽  
Cd 34

Abstract Clonal cytogenetic abnormalities, most commonly involving chromosomes 7 and 8, are detectable by conventional karyotyping in Ph-negative metaphases of some chronic myeloid leukemia (CML) patients with a major cytogenetic response (MCyR) to imatinib. It is unknown whether these abnormalities involve the primitive progenitor cell compartment, and whether their frequency in this compartment may exceed the frequency detected by karyotyping. To answer these questions we analyzed lineage-negative CD34+/CD38− and CD34+/CD38+ cells from CML patients in complete cytogenetic response (CCyR), using by fluorescent in situ hybridization (FISH) for chromosome 7 and 8 abnormalities and BCR-ABL. Methods: Mononuclear cells (MNC) were selected from the bone marrow of patients with CCR by Ficoll-Hypaque density gradient centrifugation and enriched for lineage-negative cells using an immunomagnetic column. Lineage-negative cells were further sorted into CD34+/38− and CD34+/38+ cells by multicolor FACS. Interphase FISH analysis was performed using 7 LSI D7S522 Spectrum Orange / CEP7 Spectrum Green (chromosome 7), CEP8 Spectrum Aqua (chromosome 8) and LSI BCR/ABL +9q34 TriColor Dual Fusion Probe. Thus far, 5 CML patients with CCR (3 with a normal karyotype and 2 with trisomy 8) and 1 normal control have been analyzed. Results: Of the three CML patients in CCR with normal karyotype, one had 9% deletion 7q (internal cut off of 0.5%) and the second 1.2% trisomy 8 (just over the internal cut off of 1%) cells in the CD-34+/38− population, while the CD-34+/38+ cell population did not show abnormalities. The third CCR patient had no abnormalities in the CD-34+/38− and CD-34+/38+ cell populations. Two CML patients in CCR with 45% trisomy 8 abnormal cells by conventional cytogenetics had 44% and 60% trisomy 8 positive cells in the CD34+/38+ population (two few CD34+/CD38− cells were available for analysis). No BCR-ABL signal was detected in any cell. In the healthy control, the CD34+/38+ cells were normal, but 4.1% of CD34+/38− showed a deletion of 7q. Conclusion: Clonal chromosomal of chromosomes 7 and 8 in Ph-negative primitive hematopoietic progenitor cells may be more common than suggested by conventional karyotyping. A larger cohort of CML patients in CCR and healthy individuals is under study to determine if this phenomenon is indeed related to CML or occurs also in normals. Results will have implications for the interpretation of karyotypes in patients with hematologic malignancies.

scholarly journals Genetic Analysis of the Hypothalamic Corticotropin-Releasing Factor System

Endocrinology ◽  
2005 ◽  
Vol 146 (5) ◽  
pp. 2362-2368 ◽  
Author(s):  
Steven J. Garlow ◽  
Ericka Boone ◽  
Wei Li ◽  
Michael J. Owens ◽  
Charles B. Nemeroff
Keyword(s):  
Binding Protein ◽  
Transcript Abundance ◽  
Interval Mapping ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Chromosome 1 ◽  
Chromosome 12 ◽  
Potential Candidate ◽  
Chromosome 13 ◽  
Crf System

Abstract The goal of this study was to use BxD recombinant inbred mice to search for genes that control the hypothalamic corticotrophin-releasing factor (CRF) system. The specific phenotype that was measured was abundance of transcripts that encode CRF, CRF receptor (Crf-R1), CRF binding protein, and arginine vasopressin (AVP) in total hypothalamic RNA. The strain distribution patterns for the transcript abundances for each target were continuously distributed, consistent with these being quantitative traits. Marker regression and interval mapping revealed associations with quantitative trait loci (QTL) for CRF transcript abundance on chromosome 1 (at 89.2 cM), chromosome 12 (between 54–58 cM), and chromosome 13 (between 26–30 cM); for Crf-R1 transcript abundance on chromosome 7 (at 1.5 cM), chromosome 12 (at 37 cM), and chromosome X (at 30 cM); for CRF binding protein transcript abundance on chromosome 7 (at 48.5 cM), chromosome 8 (at 65 cM), and chromosome 12 (at 19 cM); and for AVP transcript abundance on chromosome 7 (at 1 cM), chromosome 12 (at 13 cM), and chromosome 13 (at 45 cM). The transcript abundance QTL were not linked to their respective structural genes. Interval mapping on chromosome 7 reveals substantial overlap between QTL that control AVP and Crf-R1 transcript abundance and on chromosome 12 for QTL that control CRF and Crf-R1, which may indicate loci that coordinate regulation of the CRF system. There are QTL for all four targets on chromosome 12. There are a number of neurodevelopmental genes in very close proximity to the transcript abundance QTL that are potential candidate genes.

Partial trisomy for the long arm of chromosome 7 due to familial balanced translocation

1979 ◽  
Vol 49 (3) ◽  
pp. 283-289 ◽  
Author(s):  
M. Schmid ◽  
J. Wolf ◽  
H. Nestler ◽  
W. Krone
Keyword(s):  
Partial Trisomy ◽  
Chromosome 7 ◽  
Balanced Translocation

scholarly journals Marked increases in hepatic NAD(P)H:oxidoreductase gene transcription and mRNA levels correlated with a mouse chromosome 7 deletion

1989 ◽  
Vol 86 (17) ◽  
pp. 6699-6703 ◽  
Author(s):  
D D Petersen ◽  
F J Gonzalez ◽  
V Rapic ◽  
C A Kozak ◽  
J Y Lee ◽  
...  
Keyword(s):  
Gene Transcription ◽  
Gene Activation ◽  
Quinone Reductase ◽  
Chromosome 8 ◽  
Chromosome 7 ◽  
Mrna Levels ◽  
Basal Expression ◽  
Radiation Induced ◽  
Tetrachlorodibenzo P Dioxin ◽  
Dt Diaphorase

The NAD(P)H:menadione oxidoreductase gene (Nmo-1) codes for a quinone reductase (also called DT diaphorase; EC 1.6.99.2) believed to play a central role in protection against oxidative stress. We have studied mice with a radiation-induced chromosomal deletion involving the albino locus (c) on chromosome 7 and found that Nmo-1 mRNA levels and the rate of Nmo-1 gene transcription are markedly increased (greater than 100-fold and greater than 12-fold, respectively) in the untreated c14CoS/c14CoS deletion homozygote, compared with the untreated Cch/Cch wild-type and the Cch/C14CoS heterozygote. These data suggest that a gene located on chromosome 7 encodes a trans-acting regulatory factor that might be a negative effector of the Nmo-1 gene, which we show here is located on chromosome 8 approximately 1.4 centimorgans (about 1000 kilobase pairs) from the Es-2 gene. Conversely, there are no detectable basal levels of cytochrome P1450 (Cyp1a1 gene) or cytochrome P3450 (Cyp1a2 gene) mRNA, indicating that the regulation of basal expression of the Cyp1a1 and Cyp1a2 genes is distinct from that of the Nmo-1 gene. Moreover, the Cyp1a1 and Cyp1a2 genes and the Nmo-1 gene are induced by tetrachlorodibenzo-p-dioxin in the cch/cch, cch/c14CoS, and c14CoS/c14CoS mice. The mechanism of tetrachlorodibenzo-p-dioxin inducibility of the Cyp1a1, Cyp1a2, and Nmo-1 genes is, therefore, independent of the mechanism of Nmo-1 gene activation in untreated c14CoS/c14CoS mice.

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