Reagent kit for detecting HBB gene mutation and HLA genotyping

Abstract

The invention provides a method for detecting HBB gene mutation and HLA genotyping based on the high throughput sequencing technology and a corresponding reagent kit. An adopted primer composition comprises a primer of closely-linked single nucleotide polymorphisms (SNP) within the 1 Mb range of the up stream and the down stream of the specific amplification human embryo beta-thalassemia HBB gene and primers of the closely-linked single nucleotide polymorphisms (SNP) within the ranges at the up stream of the LHA-A gene, between the HLA-A gene and the HLA-B gene, between the HLA-B gene and the HLA-DRA gene, between the HLA-DRA gene and the HLA-DQB1 gene and at the downstream of the HLA-DQB1 gene of the specific amplification human leucocyte antigen system. The method has the advantages of university, single nucleotide polymorphisms (SNP) sequencing, high throughput, low cost, high flexibility and strong specificity.

Description

technical field [0001] The invention relates to the field of genome mutation detection, in particular to the detection of HBB gene mutation and leukocyte antigen system typing. Background technique [0002] β-thalassemia is the most common monogenic disease worldwide. It is a hemolytic disease caused by partial or complete inhibition of β-chain synthesis due to mutations in the β-globin gene. According to the inhibition degree of β-globin gene expression, β-thalassemia is divided into two types: those who cannot synthesize β-globin chain at all are called β0 thalassemia, and those who can still synthesize β-globin chain but the amount of synthesis is reduced are called Beta+ thalassemia. The main clinical symptoms of β-thalassemia are microcytic hypochromic hemolytic anemia, hepatosplenomegaly (obvious splenomegaly), bone marrow expansion retardation combined with infection, and bone changes. β-thalassemia occurs most frequently in southern China, and the carrier rates of ...

AI Technical Summary

Problems solved by technology

However, the sensitivity of these gene detection methods is low at present, and they are only suitable for the peripheral blood of newborns as the detection object, and are not suitable for the pre-transplantation screening of single cells.

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