Method for analyzing breakpoints of reciprocal translocation chromosomes

Abstract

The invention relates to a method for analyzing breakpoints of reciprocal translocation chromosomes. The method has the beneficial effects that chromatins near the breakpoints of translocation chromosomes are obtained by utilizing the chromosome microdissection technology and then the breakpoints can be rapidly and accurately positioned at a relatively low price by utilizing the NGS (next generation sequencing) technology for sequencing analysis, thus being beneficial to subsequent analysis of the reciprocal translocation chromosomes, for example, primers can be designed by utilizing the information to diagnose the PGD (preimplantation genetic diagnosis) embryos of reciprocal translocation chromosome carriers to distinguish completely normal embryos from embryos carrying the reciprocal translocation chromosomes; transmission of the reciprocal translocation chromosomes in families is blocked by only transplanting the completely normal embryos.

Description

technical field [0001] The invention relates to the field of cytogenetic engineering, in particular to a breakpoint analysis method for reciprocal translocation chromosomes. Background technique [0002] Reciprocal chromosomal translocation refers to the change of chromosomal structure caused by the exchange of chromatin of non-homologous chromosomes, and its incidence in newborns is about 1 / 500 to 1 / 6251. Carriers of reciprocal translocations often have no clinical phenotype and are therefore often referred to as reciprocal translocation carriers. However, due to the abnormal segregation of chromosomes during meiosis, a large proportion of chromosomally abnormal gametes will be produced. For non-Robertsonian translocation carriers, theoretically, only 1 / 18 completely normal gametes can be produced, 1 / 18 gametes carry reciprocal translocation chromosomes, and the rest are abnormal gametes. After these gametes are fertilized, they will form partially trisomy or partially mo...

AI Technical Summary

Problems solved by technology

This technology requires special flow cytometry and sorting technology, and the cost of sequencing is also high, making it difficult to promote and clinically apply

In 2011, two independent groups from Johns Hopkins University and Harvard University in the United States reported the work of using region capture technology combined with NGS technology to find breakpoints. Although this method can greatly reduce the sequencing throughput, it needs to design a special Capture chips are time-consuming and laborious, and are still difficult to apply clinically

However, this method requires a special library construction method, and the amount of sequencing is still relatively large (about 280 million reads), and there are still some difficulties in clinical application.

There is currently no suitable method for reciprocal translocation chromosomal breakpoint analysis

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