The invention discloses a GCKR
gene mutation diabetes diagnosis kit and application thereof. The method comprises the following steps: determining two new
gene mutation sites causing the presentation of the
phenotype of type 2
diabetes mellitus: GCKR
gene c.718Cgt; t, c, 1551Ggt; t
mutation. According to a Chinese hereditary endocrine
metabolic disease queue and reported GCKR mutation case information, GCKR
gene mutation diabetes diagnosis sites are further expanded, phenotypic characteristics of novel diabetes caused by GCKR
gene mutation are further extracted, a diagnosis scoring model, namely GCKR scores, for diagnosing the novel diabetes caused by GCKR
gene mutation is constructed, and the GCKR scores are used for diagnosing the novel diabetes caused by GCKR gene mutation. And performing subject working curve
verification to obtain an effective GCKR
score diagnosis model. According to the method, a precise diabetes
typing diagnosis
system is further constructed, and after variation information is obtained, the patients are scored and typed again in combination with clinical phenotypes of the patients, so that precise diagnosis of diabetes is carried out. According to accurate
typing of diabetes, patients are treated, complications are monitored and prevented, and grading guidance is performed on prenatal and
postnatal care.