Biochips for certain mutations in the gene for galactose-1-phosphate URIDIL transferase liver causes damage in newborns

摘要

FIELD: medicine.;SUBSTANCE: biochip enabling diagnosing type I galactosemia is produced. Also, a method of using the produced biochip for detecting point mutations in GALT gene is offered. The given method involves a two-round multiplex PCR to produce a one-chained fluorescent marked DNA fragment; hybridisation on the biochip containing a set of oligonucleotides; analysis of the results.;EFFECT: invention extends the range of technological products used in diagnosing type I galactosemia.;3 cl, 34 dwg, 23 tbl, 6 ex