Methylmalonemia related gene MMACHC mutation site and detection method thereof

Abstract

The invention relates to the technical field of biology, and relates to a methylmalonemia related gene MMACHC mutation site and a detection method thereof. Methylmalonemia related genes are MMACHC and MMUT, the methylmalonemia related genes MMACHC have 13 gene site mutations related to the methylmalonemia, and mutation sites are c.2 T > G, c.2 T > C, c.81 +1 G > A, c.395 G > A, c.426 C > A, c.427 C > T, c.429 + 1 G > C, c.481 C > G, c.481 C > A, c.616del, c.616 C > T, c.617G > C or c.626_627 delTG. According to the methylmalonemia related gene MMACHC mutation site and the detection method thereof, whether the mutation sites exist or not is detected through second-generation targeted sequencing, the detection method can be used as a screening method for predicting whether a sample to be detected suffers from the methylmalonemia or not, and a new treatment approach is provided for researching drugs for treating the methylmalonemia in the future.

Description

technical field [0001] The invention relates to the field of biotechnology, and relates to a methylmalonic acidemia-related gene MMAHC mutation site and a detection method thereof. Background technique [0002] Methylmalonic acidemia (MethylmalonicAciduria, MMA) is an autosomal recessive genetic disease, fatal, severe heterogeneous methyl malonate and cobalamin metabolic abnormalities, caused by poor prognosis. Morbidity and mortality are high in MMA patients, and the prognosis for long-term survival is poor. Its onset varies from neonatal period to adulthood, and affected children typically present with anorexia, hypotonia, developmental delay, progressive renal failure, functional immunocompromise, optic atrophy, and hematologic abnormalities. Severe cases can cause ketoacidosis, hypoglycemia, hyperammonia, and hyperglycinemia, and the mortality rate is high in neonates and infants. An important reason for such consequences is that the pathogenic mutations of MMA are not...

AI Technical Summary

Problems solved by technology

However, due to the incompleteness of the existing pathogenic loci in genetic testing, that is, most of the existing pathogenic loci are pathogenic loci with a high incidence rate, and some mutation sites with a low incidence rate or other causes of MMA are not currently available. unambiguous, thus leading to false negative results

[0004] At present, the method of detecting genetic disease-causing loci in clinical diagnosis is mainly one-generation sequencing, that is, Sanger sequencing. This method is high in cost and low in throughput, takes a long time, and has low detection efficiency.

Images