Sequencing library construction method, kit and application for high-throughput detection of neonatal diabetes-causing gene mutation sites

Abstract

The invention relates to a sequencing library constructing method and kit for high flux detection of neonatal diabetes mellitus pathogenic gene mutation sites and uses of the method and the kit. The method includes performing a first time of amplification, digesting primers, performing a second time of amplification, purifying and recovering all DNA strips, sequencing and analyzing.

Description

technical field [0001] The invention relates to the technical field of molecular biology diagnosis, in particular to a method for constructing a sequencing library for high-throughput detection of gene mutation sites for neonatal diabetes mellitus, a kit and an application thereof. Background technique [0002] Monogenic diabetes is a special type of diabetes. It is caused by a single gene defect and is the most definite cause of diabetes, but it is difficult and complicated to diagnose clinically, and the diagnosis rate is low. From the perspective of clinical manifestations and clinical diagnosis, monogenic diabetes can be divided into the following types: neonatal diabetes mellitus (NDM), adult-onset diabetes of the young (MODY), mitochondrial diabetes mellitus (MDM), severe insulin resistance syndrome, rare other syndromes associated with diabetes mellitus, etc. [0003] Neonatal diabetes mellitus (NDM) usually refers to diabetes that occurs within 6 months after birth...

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Problems solved by technology

[0017] At present, NDM in China has not attracted enough attention. Monogenic diabetes is relatively rare, with sporadic onset and difficult recruitment. Some basic data and clinical research come from European and American countries. Most NDM in China are still mistaken for type Ⅰ diabetes

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