A DIAGNOSTIC KIT FOR AUTOSOMAL-RECESSIVE MENDELIAN DISORDERS

摘要

PURPOSE: A kit for diagnosing autosomal recessive Mendelian disorders (AR-MDs) is provided to simply and accurately diagnose AR-MDs which are hard to diagnose, thereby preventing and treating AR-MDs. CONSTITUTION: A kit for diagnosing AR-MDs contains a device for detecting G6PC gene or TSHR gene mutation. G6PC gene has a polynucleotide sequence of sequence number 1 or a polynucleotide sequence encoding an amino acid sequence of sequence number 2. The mutation in G6PC gene is G122D or c.648G>T. TSHR gene contains a polynucleotide sequence of sequence number 3 and a polynucleotide sequence encoding an amino acid sequence of sequence number 4.