hbb gene mutation and hla typing detection kit

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 single-gene disease in the world. It is a hemolytic disease caused by partial or complete inhibition of β chain synthesis due to β globin gene mutation. According to the degree of inhibition of β-globin gene expression, β-thalassemia is divided into two types: β-globin chains can not be synthesized at all, called β0-thalassemia, β-globin chains can still be synthesized but the amount of synthesis reduced is called Beta + thalassemia. β-thalassemia is characterized by small cell hypochromic hemolytic anemia with hepatosplenomegaly (obvious splenomegaly), bone marrow expansion and growth retardation combined with infection, and bone changes as the main clinical symptoms. β-thalassemia is the most common in southern China. The carrying rates of ...

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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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