Assignment of the human α2-plasmin inhibitor gene (PLI) to chromosome region 18p11.1→q11.2 by in situ hybridization

1988 ◽  
Vol 47 (4) ◽  
pp. 209-211 ◽  
Author(s):  
A. Kato ◽  
Y. Nakamura ◽  
O. Miura ◽  
S. Hirosawa ◽  
Y. Sumi ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chromosome Region ◽  
Plasmin Inhibitor ◽  
Inhibitor Gene

scholarly journals Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH)

2004 ◽  
Vol 59 (5) ◽  
pp. 266-272 ◽  
Author(s):  
Sofia Mizuho Miura Sugayama ◽  
Vera Hermina Kalika Koch ◽  
Érica Arai Furusawa ◽  
Cláudio Leone ◽  
Chong Ae Kim
Keyword(s):  
In Situ Hybridization ◽  
Urinary Tract ◽  
Fluorescence In Situ Hybridization ◽  
Chromosome Region ◽  
Voiding Cystourethrogram ◽  
High Incidence ◽  
Hybridization Test ◽  
A Prospective Study ◽  
Elastin Gene

PURPOSE: Williams-Beuren syndrome is a rare multiple anomalies/mental retardation syndrome caused by deletion of contiguous genes at chromosome region 7q11.23. The aim of this work was to determine the frequency and the types of renal and urinary tract anomalies in 20 patients with Williams-Beuren syndrome. METHODS: The fluorescence in situ hybridization test using a LSI Williams syndrome region DNA probe was performed for all 20 patients to confirm the diagnosis of Williams-Beuren syndrome. A prospective study was performed in order to investigate renal and urinary aspects using laboratory assays to check renal function, ultrasonography of the kidneys and urinary tract, voiding cystourethrogram and urodynamics. RESULTS: Deletion of the elastin gene (positive fluorescence in situ hybridization test) was found in 17 out of 20 patients. Renal alterations were diagnosed in 5 of 17 (29%) the patients with the deletion and in 1 of 3 patients without the deletion. Fourteen patients with the deletion presented dysfunctional voiding. Arterial hypertension was diagnosed in 3 patients with deletions and 1 of these presented bilateral stenosis of the renal arteries. CONCLUSIONS: Due to the high incidence of renal and urinary abnormalities in Williams-Beuren syndrome, performing a systematic laboratory and sonographic evaluation of the patients is recommended.

Localization of the human Rh blood group gene structure to chromosome region 1p34.3–1p36.1 by in situ hybridization

1991 ◽  
Vol 86 (4) ◽  
pp. 398-400 ◽  
Author(s):  
B. Chérif-Zahar ◽  
M. G. Mattéi ◽  
C. Le Van Kim ◽  
P. Bailly ◽  
J. -P. Cartron ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Blood Group ◽  
Gene Structure ◽  
Chromosome Region ◽  
Rh Blood Group

Localization of the repetitive telomeric sequence (TTAGGG)n in four salmonid species

Genome ◽  
1996 ◽  
Vol 39 (5) ◽  
pp. 1035-1038 ◽  
Author(s):  
M. Abuín ◽  
P. Martínez ◽  
L. Sánchez
Keyword(s):  
In Situ Hybridization ◽  
Salmo Salar ◽  
Fluorescent In Situ Hybridization ◽  
Salmo Trutta ◽  
Chromosome Region ◽  
Telomeric Sequence ◽  
Evolutionary Mechanism ◽  
Salmonid Species ◽  
Telomeric Probe

We have analyzed the localization of the highly conserved telomeric sequence (TTAGGG)n in four salmonid species, two of the genus Salmo (Salmo trutta and Salmo salar) and two of the genus Oncorhynchus (Onchorhynchus mykiss and Onchorhynchus kisutch), by fluorescent in situ hybridization. As expected, the hybridization signal was mostly localized at the telomeres of all chromosomes in the four species. Two species evidenced special hybridization sites with the telomeric probe: (i) interstitial heterochromatic blocks in particular long chromosomes in S. salar, this observation supports tandem fusions as the karyotypic evolutionary mechanism leading to the formation of the long acrocentric and submetacentric chromosomes in the karyotype of S. salar; (ii) the whole NOR region in O. mykiss; this observation suggests that the (TTAGGG)n sequence is scattered all along this chromosome region. Key words : Salmo, Oncorhynchus, telomeres, in situ hybridization, evolution.

scholarly journals Localization of the human c-sis oncogene in Ph1-positive and Ph1- negative chronic myelocytic leukemia by in situ hybridization

Blood ◽  
1984 ◽  
Vol 63 (1) ◽  
pp. 223-225 ◽  
Author(s):  
CR Bartram ◽  
A de Klein ◽  
A Hagemeijer ◽  
G Grosveld ◽  
N Heisterkamp ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Chromosome Region ◽  
Philadelphia Chromosome ◽  
Active Role ◽  
Chromosome 22 ◽  
Chronic Myelocytic Leukemia ◽  
Metaphase Chromosomes ◽  
Myelocytic Leukemia ◽  
Negative Case

Abstract Oncogenes are a group of evolutionary conserved cellular genes (c-onc) homologous to the transforming genes of oncogenic retroviruses (v-onc). Some of them are localized near the breakpoints of specific chromosomal aberrations occurring in various neoplasms, as for example the Philadelphia translocation, t(9;22)(q34;q11), in chronic myelocytic leukemia (CML). Recently, we localized the human c-abl oncogene to chromosome region 9q34 and demonstrated a translocation of this gene to the Philadelphia chromosome (Ph1,22q-) in various forms of Ph1- positive, but not Ph1-negative, chronic myelocytic leukemia (CML). Another human oncogene, c-sis, is located on chromosome 22 and was recently reported to be transferred to chromosome 9q+ in one CML patient. We have now studied 2 CML patients with classic and variant types of Ph1 translocation, one Ph1-negative case, and a healthy control using in situ hybridization of a c-sis probe to metaphase chromosomes. These studies show that c-sis: (1) is localized to region 22q12.3-q13.1, far away from the breakpoint region 22q11 in CML, (2) segregates with the translocated part of chromosome 22 to different chromosomes in Ph1-positive patients, and (3) remains on chromosome 22 in the Ph1-negative case. Therefore, these data give no support for an active role of the c-sis gene in the generation of CML. Thus, if either of these two oncogenes is involved in the development of Ph1-positive CML, c-abl appears to be the more important one.

Mapping of the human ribonuclease inhibitor gene (RNH) to chromosome 11p15 by in situ hybridization

Genomics ◽  
1990 ◽  
Vol 8 (1) ◽  
pp. 175-178 ◽  
Author(s):  
Susan M. Zneimer ◽  
David Crawford ◽  
Nancy R. Schneider ◽  
Bruce Beutler
Keyword(s):  
In Situ Hybridization ◽  
Ribonuclease Inhibitor ◽  
Chromosome 11P15 ◽  
Inhibitor Gene
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