Department of Cytogenetics

Projects

Completed projects  

1. Cytogenetic study of Myelodysplastic syndromes

Year of completion: 2003  

Funding agency: ICMR

Outcome of the project

The myelodysplastic syndrome is a rare, pre leukemia condition and occurs in advanced age group. In our study about 55% patients were below 45 years age group.

The cytogenetic study using GTG-banding revealed 30% of chromosomal abnormalities , and few novel chromosomal aberrations also detected in our study group. The study also identified etiological factors such an occupational exposure and environmental factors.

2. Comparative genomic hybridization study (CGH) in myelodysplastic syndrome

Year of completion: 2007

Funding agency: ICMR

Outcome of the project:

The CGH study shown the genomic amplification and deletions various regions of chromosomes, in 10 MDS patients studied. However chromosomal mapping of the same is important to confirm the same.

3. Cytogenetic study of Acute lymphoblastic leukemia in young

Year of completion - 2008

Funding agency: ICMR

Expected outcome of the project:

This project was planned on the base of our previous cytogenetic studies in ALL patients. The frequency of chromosomal abnormalities detected in GTG banding technique alone was 49%. So we expect to improve the detection of chromosomal abnormalities by combined use of conventionl (GTG banding )and molecular methods(fluorescence in situ hybridization) method.

4. Aberrant P15 promoter methylation study in adult Acute lymphoblastic leukemia:

Year of completion - 2010

Funding agency: ICMR

Expected outcome:

Prognostic impact of the P15 gene methylation could be evaluated in selected risk group of ALL patients for guiding the selection of therapy and also providing a base for developing novel therapies such as demethylation treatment.

Frequency of methylation of P15 gene in ALL will be known in our population.

5.. Cytogenetic screening of Fanconi anemia and study of telomere and telomerase activity.

Year of completion - 2005-2008

Funding agency: ICMR

Outcome of the project

Chromosomal breakage investigation using MMC and DEB induction was carried out in 195 pediatric patients suspected with Fanconi anemia (FA). Chromosomal breakage evaluation showed 33 (17%) patients with classical FA, 9 (4%) with somatic mosaicism FA, 25 (13%) with FA with high frequency of chromosomal breakage and without clinical features and 128 (66%) with suspected FA but had no chromosomal breakage and clinical features of FA . Chromosomal breakage investigation is an important diagnostic tool for differentiating FA idiopathic aplastic anemia.

6. Profiling of myelodysplastic syndrome and acute myeloid leukemia by comparative genomic hybridization (CGH) : Its correlation with clinical and Immunophenotype.

Year of completion: 2008-2010

Funding agency: ICMR

Outcome of the project:

The CGH study was carried out in karyotypically normal MDS and AML patients. The DNA copy number changes including gains and losses were detected in 36% and 52%, MDS , AML patients respectively. The DNA copy number changes in AML were associated with abnormal expression of antigens.

Ongoing Projects

1. Parental origin of extra chromosome 21 in Down syndrome children and its association with congenital heart disease

 Year of completion : 2010

Funding agency: ICMR

Expected out come from the project

 Frequency of parental contribution (maternal or paternal) of extra 21 chromosome and stage of meiotic origin is expected from the study. Clinical correlation will be possible through molecular study of 21 chromosomes i.e. recombination frequencies. The locus for CHD can be identified on the basis of disomic homozygous, or disomic heterozygous for particular locus of DS with CHD and without CHD. Identification etiological factors in non-disjunction of chromosome 21 can be expected.

2. Study of mechanism of hyperdiploidy in ALL: Centrosome index and spindle check point gene mutation.

Year of completion - 2013

Funding agency -ICMR

Expected outcome: The mutation of hBUB1 gene in ALL patients will be detected and their prognostic impact evaluation may help in monitoring the patients’ treatment.

3. Susceptibility to BCR-ABL gene in in vitro and ex-vivo studies.

Year of completion :2013

Funding agency : ICMR

Expected out come :

Study is carrying out in CML patients. The novel drug resistant mutations will be detected at ABL kinase domain gene.

4. Molecular screening of Fanconi anemia complementation groups in Indian population.

Year cf completion :2013

Funding agency : ICMR extramural

Expected outcome

The incidence of FA will be estimated. The frequency of FA genes will be studied using complementation analysis. The data on mutations in FA patients will be available.

5. Clinical significance of deletions of BCR/ABL gene (9q34) and microRNA expression in chronic myeloid leukemia (CML) patients.

Year of completion : 2012

Funding agency : CSIR.

Expected outcome of the project