Precise break point mapping of balanced reciprocal translocation cases using long-read sequencing

Usha R. Dutta

Usha R. Dutta, Centre for DNA Fingerprinting & Diagnostics


Disease-associated chromosomal rearrangements often have break points located within the disease gene or in its vicinity. In order to identify the disease gene, characterization of the breakpoints is a promising start. Balanced reciprocal translocations (BRTs) are difficult to map but recent next generation sequencing technology has emerged efficiently for accurate detection. Two BRT cases were characterized by both positional cloning and genome sequencing, but the long-read sequencing only helped in gene identification. This is the first BRT study delineated using nanopore sequencing. This technique can now be used for routine clinical investigations which is of great help in genotype-phenotype correlation. The applications and limitations of long-read sequencing of BRTs are discussed.


Usha R. Dutta is a DAAD fellow and obtained her PhD in Human Molecular Genetics from Martin Luther University, Germany. She has several awards to her credit and is currently working as a Cytogeneticist at CDFD, Hyderabad, India. She has almost 23 years of experience and established the Molecular Cytogenetics lab. She is the General secretary for the Genetic Society of Hyderabad, has more than 30 publications to her name, and is also a reviewer for many journals.