scholarly journals Incidence, Reproductive Outcome, and Economic Impact of Reciprocal Translocations in the Domestic Pig

DNA ◽  
2021 ◽  
Vol 1 (2) ◽  
pp. 68-76
Author(s):  
Nicole M. Lewis ◽  
Claudia C. Rathje ◽  
Carla Canedo-Ribeiro ◽  
Lisa M. Bosman ◽  
Lucas G. Kiazim ◽  
...  
Keyword(s):  
Economic Impact ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
In Situ Hybridisation ◽  
Economic Losses ◽  
Fluorescence In Situ Hybridisation ◽  
Domestic Pig ◽  
Reciprocal Translocations ◽  
Cytogenetic Investigation

Pigs (Sus scrofa) have vast economic importance, with pork accounting for over 30% of the global meat consumption. Chromosomal abnormalities, and in particular reciprocal translocations (RTs), are an important cause of hypoprolificacy (litter size reduction) in pigs. However, these do not necessarily present with a recognizable phenotype and may cause significant economic losses for breeders when undetected. Here, we present a reappraisal of the incidence of RTs across several European pig herds, using contemporary methodology, as well as an analysis modelling the economic impact of these abnormalities. Molecular cytogenetic investigation was completed by karyotyping and/or multiprobe FISH (fluorescence in situ hybridisation) between 2016–2021, testing 2673 animals. We identified 19 types of chromosome abnormalities, the prevalence of these errors in the database was 9.1%, and the estimated incidence of de novo errors was 0.90%. Financial modelling across different scenarios revealed the potential economic impact of an undetected RT, ranging from £69,802 for an individual affected terminal boar in a commercial farm selling weaned pigs, to £51,215,378 for a genetics company with an undetected RT in a dam line boar used in a nucleus farm. Moreover, the added benefits of screening by FISH instead of karyotyping were estimated, providing a strong case for proactive screening by this approach.

scholarly journals Rapid Multi-Hybridisation FISH Screening for Balanced Porcine Reciprocal Translocations Suggests a Much Higher Abnormality Rate Than Previously Appreciated

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 250
Author(s):  
Rebecca E O’Connor ◽  
Lucas G Kiazim ◽  
Claudia C Rathje ◽  
Rebecca L Jennings ◽  
Darren K Griffin
Keyword(s):  
Semen Analysis ◽  
In Situ Hybridisation ◽  
Economic Loss ◽  
Environmental Damage ◽  
Fluorescence In Situ Hybridisation ◽  
Reciprocal Translocations ◽  
Chromosome Translocations ◽  
Farrowing Rate ◽  
Significant Economic Loss

With demand rising, pigs are the world’s leading source of meat protein; however significant economic loss and environmental damage can be incurred if boars used for artificial insemination (AI) are hypoprolific (sub-fertile). Growing evidence suggests that semen analysis is an unreliable tool for diagnosing hypoprolificacy, with litter size and farrowing rate being more applicable. Once such data are available, however, any affected boar will have been in service for some time, with significant financial and environmental losses incurred. Reciprocal translocations (RTs) are the leading cause of porcine hypoprolificacy, reportedly present in 0.47% of AI boars. Traditional standard karyotyping, however, relies on animal specific expertise and does not detect more subtle (cryptic) translocations. Previously, we reported development of a multiple hybridisation fluorescence in situ hybridisation (FISH) strategy; here, we report on its use in 1641 AI boars. A total of 15 different RTs were identified in 69 boars, with four further animals XX/XY chimeric. Therefore, 4.5% had a chromosome abnormality (4.2% with an RT), a 0.88% incidence. Revisiting cases with both karyotype and FISH information, we reanalysed captured images, asking whether the translocation was detectable by karyotyping alone. The results suggest that chromosome translocations in boars may be significantly under-reported, thereby highlighting the need for pre-emptive screening by this method before a boar enters a breeding programme.

KRAS fluorescence in situ hybridisation testing for the detection and diagnosis of pancreatic adenocarcinoma

2018 ◽  
Vol 71 (10) ◽  
pp. 865-873 ◽  
Author(s):  
Noriyuki Shiroma ◽  
Koji Arihiro ◽  
Miyo Oda ◽  
Makoto Orita
Keyword(s):  
Chromosomal Instability ◽  
Chromosomal Abnormalities ◽  
Direct Sequencing ◽  
In Situ Hybridisation ◽  
Ductal Adenocarcinoma ◽  
Fluorescence In Situ Hybridisation ◽  
Instability Index ◽  
Chromosomal Changes ◽  
Detection And Diagnosis

AimsThe aim of our study was to analyse correlations between KRAS mutation status, chromosomal changes that affect KRAS status in cells from pancreatic tumours.MethodsWe collected 69 cases of surgically resected pancreatic ductal adenocarcinoma (PDA) and seven cases of chronic pancreatitis (CP). Chromosomal abnormalities of KRAS and CEP12 were detected using fluorescence in situ hybridisation (FISH).ResultsThe number of CEP12 signals per cell ranged from 1.78 to 2.04 and 1.46 to 4.88 in CP and PDA samples, respectively, while the number of KRAS signals per cell ranged from 1.94 to 2.06 and 1.88 to 8.18 in CP and PDA samples, respectively. The ‘chromosomal instability index’, which was defined as the percentage of cells with any chromosomal abnormality, was over 5.7 times greater in PDA than in CP. We performed KRAS mutation analysis by direct sequencing and found that tumours with KRAS mutations have a significantly higher mean KRAS signal per cell from PDA samples compared with tumours with wild-type KRAS. KRAS amplification was noted in 10% of cases. Although we found that lymph node metastasis and distal metastasis of PDA were more frequent in cases with KRAS amplification, this was not correlated with overall survival. Using a threshold of 40%, we found that the chromosomal instability index robustly discriminated PDA cells from CP cells.ConclusionsBased on these findings, we concluded that FISH testing of KRAS using cytology samples may represent an accurate approach for the diagnosis of PDA.

The Prognostic Significance of 8p21 Deletion in Multiple Myeloma

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 5153-5153
Author(s):  
Hareth Nahi ◽  
Tolga Sutlu ◽  
Evren Alici ◽  
Goesta Gahrton
Keyword(s):  
Clustering Analysis ◽  
Chromosomal Region ◽  
Chromosomal Abnormalities ◽  
In Situ Hybridisation ◽  
Prognostic Significance ◽  
High Dose ◽  
Prognostic Impact ◽  
Fluorescence In Situ Hybridisation ◽  
High Dose Therapy

Abstract In this study, we have investigated the prognostic impact of fluorescence in situ hybridisation (FISH) results for the chromosomal regions 1q21, 6q21, 8p21, 9p21, 13q14, 15q22, 17p13, 19q13 as well as the translocations t(4;14) and t(11;14) in patients with MM receiving ASCT. Randomly selected 65 patients were analyzed by FISH for these regions and hierarchical clustering analysis revealed associations between the occurrences of various chromosomal abnormalities. 58 patients received high-dose therapy (HDT) followed by autologous stem cell transplantation (ASCT) and 14 of these patients had monoallelic loss of the 8p21 region. Overall survivals (OS) and progression-free survivals (PFS) were significantly lower in patients with del(8p21). Moreover, multivariate analysis revealed that the occurrence del(8p21) is an independent prognostic factor for both OS and PFS. These findings suggest that the chromosomal region 8p21 could be monitored and used for the prognosis of patients with MM undergoing ASCT.

Monitoring HIV-1 treatment in immune-cell subsets with ultrasensitive fluorescence-in-situ hybridisation

The Lancet ◽  
1999 ◽  
Vol 353 (9148) ◽  
pp. 211-212 ◽  
Author(s):  
Bruce K Patterson ◽  
Mary Ann Czerniewski ◽  
John Pottage ◽  
Michelle Agnoli ◽  
Harold Kessler ◽  
...  
Keyword(s):  
Immune Cell ◽  
In Situ Hybridisation ◽  
Fluorescence In Situ Hybridisation ◽  
Immune Cell Subsets ◽  
Hiv 1

scholarly journals De novo adult acute myeloid leukemia with two new mutations in juxtatransmembrane domain of the FLT3 gene: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ismael F. Alarbeed ◽  
Abdulsamad Wafa ◽  
Faten Moassass ◽  
Bassel Al-Halabi ◽  
Walid Al-Achkar ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Molecular Genetic ◽  
Type A ◽  
Chemotherapeutic Treatment ◽  
Acute Myeloid ◽  
New Mutations

Abstract Background Approximately 30% of adult acute myeloid leukemia (AML) acquire within fms-like tyrosine kinase 3 gene (FLT3) internal tandem duplications (FLT3/ITDs) in their juxtamembrane domain (JMD). FLT3/ITDs range in size from three to hundreds of nucleotides, and confer an adverse prognosis. Studies on a possible relationship between of FLT3/ITDs length and clinical outcomes in those AML patients were inconclusive, yet. Case presentation Here we report a 54-year-old Arab male diagnosed with AML who had two FLT3-ITD mutations in addition to NPM1 mutation. Cytogenetic approaches (banding cytogenetics) and fluorescence in situ hybridization (FISH) using specific probes to detect translocations t(8;21), t(15;17), t(16;16), t(12;21), and deletion del(13q)) were applied to exclude chromosomal abnormalities. Molecular genetic approaches (polymerase chain reaction (PCR) and the Sanger sequencing) identified a yet unreported combination of two new mutations in FLT3-ITDs. The first mutation induced a frameshift in JMD, and the second led to a homozygous substitution of c.1836T>A (p.F612L) also in JMD. Additionally a NPM1 type A mutation was detected. The first chemotherapeutic treatment was successful, but 1 month after the initial diagnosis, the patient experienced a relapse and unfortunately died. Conclusions To the best of our knowledge, a combination of two FLT3-ITD mutations in JMD together with an NPM1 type A mutation were not previously reported in adult AML. Further studies are necessary to prove or rule out whether the size of these FLT3-ITDs mutations and potential other double mutations in FLT3-ITD are correlated with the observed adverse outcome.

Assignment of the human slow skeletal muscle troponin gene (TNNI1) to 1q32 by fluorescence in situ hybridisation

1993 ◽  
Vol 62 (2-3) ◽  
pp. 181-182 ◽  
Author(s):  
H.J. Eyre ◽  
P.A. Akkari ◽  
C. Meredith ◽  
S.D. Wilton ◽  
D.C. Callen ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
In Situ Hybridisation ◽  
Fluorescence In Situ Hybridisation ◽  
Slow Skeletal Muscle
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