Did you know that a robust genome amplification technique called MALBAC helps in the screening of monogenic conditions in babies? In 2014, what we know as vitro fertilization, i.e., IVF baby was screened with numerous looping and annealing based amplification cycles known as MALBAC. According to an article published on https://www.asianscientist.com, it is good news for the healthcare industry as well as for patients plagued with monogenic ailments. The screening process will help to prevent the condition from spreading to the next generation. If you want to learn more about it, keep reading this article.
These ailments are caused because a single or more pair of altered alleles, displaying Mendelian inheritance prototypes such as X-linked and recessive and autosomal dominant inheritance. The condition can lead to death, congenital deformity, or disability. When it comes to treatment, only a couple of patients can opt for the same through current medical treatments available.
Though it may prove advantageous to identify monogenic point mutations and abnormalities related to chromosomes, modern technologies are failing to treat people with the condition. There is good news though because MALBAC helps in real-time discovery of point mutations as well as abnormalities associated with chromosomes with more precision and accuracy. Additionally, the process employs low-depth sequencing, thus letting cost-effective and quick pre-implantation genetic diagnosis (PGD).
As far as MALBAC is concerned, a complete genome amplification needing just one cell was build up in the year 2012, by an eminent professor and his team at Peking University’s Biodynamic Optical Imaging Center. TheMALBAC process employs linear and not exponential amplification. That is the reason why it is more authentic and accurate as well as uniform than conventional PCR-oriented techniques to assess the genetic materials of small samples.
Hereditary multiple exostoses
It is a condition and a hereditary disorder that is manifested by several bony lumps or spurs on the human bones at quite an early stage. A patient plagued with the condition carries a frame-shift point mutation and that too at the EXT2 gene. The possibilities of transmission to the next generation are high at 50 percent. Now, doctors need to prevent and save human life. The risk is evaded through a process. Doctors employ the MALBAC process and choose a normal embryo from the affected allele. Dr. Qiao’s team used this method to prevent the condition and to spread to the future generation. The MALBAC technique was developed in the professor’s laboratory.
Complete genome sequence assessment
The professor and his team used 18 embryos at the blastocyst phase and obtained from a specific couple during IVF. The team biopsied a couple of cells from thefive or six days embryo. The genome DNA went through amplification uniformly and precisely through the MALBAC technique for the complete genome sequencing evaluation.
The team detected three embryos with none of the inherited mutated allele or chromosome abnormalities. They finally selected a healthy embryo to implant into a woman. The process was accomplished; the embryo grew naturally and was free of mutated allele and aneuploidy in amniotic fluid examinations.
Author bio –
Kristen Smith is a health expert who has been running many health seminars and public discussions. She also manages her blog and reviews the health-related details provided by authentic sources. You can visit MALBAC for more information.